Source: CLINGEN

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2628
Gene Symbol: GATM
GATM 		glycine amidinotransferase 0.666 0.615 5.1E-02
CUI: C2675179
Disease: Arginine:Glycine Amidinotransferase Deficiency
Arginine:Glycine Amidinotransferase Deficiency 		disease 0.760 definitive 1.000 13 0 1940 2018
Entrez Id: 445
Gene Symbol: ASS1
ASS1 		argininosuccinate synthase 1 0.523 0.731 1.5E-09
CUI: C0751751
Disease: Argininosuccinic Acid Synthetase Deficiency, Complete
Argininosuccinic Acid Synthetase Deficiency, Complete 		disease 0.550 definitive 1.000 9 0 1982 2017
Entrez Id: 435
Gene Symbol: ASL
ASL 		argininosuccinate lyase 0.593 0.731 8.6E-10
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		disease 1.000 definitive 1.000 5 0 1976 2019
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		plakophilin 2 0.606 0.538 3.1E-18
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		disease 0.700 definitive 1.000 8 0 1996 2017
Entrez Id: 4649
Gene Symbol: MYO9A
MYO9A 		myosin IXA 0.647 0.500 0.49
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.600 limited 1.000 4 0 1998 2016
Entrez Id: 23355
Gene Symbol: VPS8
VPS8 		VPS8 subunit of CORVET complex 1.000 0.077 5.1E-08
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.500 limited 1.000 3 0 1996 2016
Entrez Id: 440
Gene Symbol: ASNS
ASNS 		asparagine synthetase (glutamine-hydrolyzing) 0.595 0.692 9.4E-06
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		disease 0.730 definitive 1.000 16 0 1968 2019
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1 		interleukin 1 receptor accessory protein like 1 0.617 0.692 1.00
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome 		disease 0.600 definitive 1.000 6 0 1999 2017
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		disease 0.800 definitive 0.938 8 0 1999 2019
Entrez Id: 81624
Gene Symbol: DIAPH3
DIAPH3 		diaphanous related formin 3 0.656 0.462 2.0E-15
CUI: C1852271
Disease: Auditory neuropathy
Auditory neuropathy 		disease 0.320 moderate 1.000 2 0 2010 2013
Entrez Id: 81624
Gene Symbol: DIAPH3
DIAPH3 		diaphanous related formin 3 0.656 0.462 2.0E-15
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder 		disease 0.320 moderate 1.000 2 0 2010 2013
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		otoferlin 0.691 0.385 5.4E-39
CUI: C1832830
Disease: Auditory Neuropathy, Nonsyndromic Recessive
Auditory Neuropathy, Nonsyndromic Recessive 		phenotype 0.500 definitive 1.000 6 0 1999 2014
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		chromodomain helicase DNA binding protein 8 0.656 0.577 1.00
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease 0.800 definitive 0.974 6 0 2012 2020
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		disease 0.700 definitive 1.000 3 0 1996 2016
Entrez Id: 2625
Gene Symbol: GATA3
GATA3 		GATA binding protein 3 0.415 0.846 0.90
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		disease 1.000 definitive 0.957 11 0 1995 2019
Entrez Id: 7809
Gene Symbol: BSND
BSND 		barttin CLCNK type accessory subunit beta 0.603 0.692 1.1E-10
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		disease 0.910 definitive 1.000 8 0 1998 2017
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 1.000 definitive 0.994 9 0 1960 2020
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2 		patched 2 0.563 0.692 3.4E-16
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 0.770 limited 1.000 5 0 1985 2017
Entrez Id: 2815
Gene Symbol: GP9
GP9 		glycoprotein IX platelet 0.695 0.500 0.48
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease 0.800 definitive 0.981 15 0 1983 2019
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB 		glycoprotein Ib platelet subunit beta 0.524 0.769 0.51
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease 1.000 definitive 1.000 12 0 1988 2019
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH 		3-hydroxyisobutyryl-CoA hydrolase 0.700 0.500 2.6E-13
CUI: C0342738
Disease: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		disease 0.710 definitive 1.000 7 0 1982 2019
Entrez Id: 686
Gene Symbol: BTD
BTD 		biotinidase 0.628 0.654 1.5E-07
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		disease 1.000 definitive 0.988 7 0 1993 2019
Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2 		RAS guanyl releasing protein 2 0.769 0.231 0.24
CUI: C4014584
Disease: BLEEDING DISORDER, PLATELET-TYPE, 18
BLEEDING DISORDER, PLATELET-TYPE, 18 		disease 0.700 definitive 1.000 9 0 1998 2018
Entrez Id: 641
Gene Symbol: BLM
BLM 		BLM RecQ like helicase 0.535 0.808 1.5E-15
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease 1.000 definitive 0.994 5 0 1994 2020
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		disease 1.000 definitive 1.000 7 0 2002 2020