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: 65217
Gene Symbol: PCDH15
PCDH15 		protocadherin related 15 0.601 0.577 8.0E-25
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.440 limited 1.000 20 0 2001 2017
Entrez Id: 4634
Gene Symbol: MYL3
MYL3 		myosin light chain 3 0.695 0.308 8.8E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.480 definitive 0.970 19 0 1993 2018
Entrez Id: 4633
Gene Symbol: MYL2
MYL2 		myosin light chain 2 0.601 0.615 2.7E-08
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		disease 0.700 definitive 1.000 18 0 1980 2019
Entrez Id: 5350
Gene Symbol: PLN
PLN 		phospholamban 0.595 0.577 0.45
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.700 definitive 1.000 18 0 1993 2019
Entrez Id: 7054
Gene Symbol: TH
TH 		tyrosine hydroxylase 0.462 0.885 1.7E-06
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		disease 0.720 definitive 1.000 18 0 1964 2018
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.330 definitive 1.000 18 0 2003 2018
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		tropomyosin 1 0.560 0.615 1.0E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.500 definitive 0.986 18 0 1993 2019
Entrez Id: 2153
Gene Symbol: F5
F5 		coagulation factor V 0.441 0.846 5.9E-15
CUI: C1861171
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 		disease 0.730 definitive 1.000 17 0 1988 2018
Entrez Id: 7007
Gene Symbol: TECTA
TECTA 		tectorin alpha 0.700 0.385 3.0E-16
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.330 definitive 1.000 17 0 1998 2017
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 1.000 definitive 0.994 16 0 1965 2019
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		disease 0.300 definitive 1.000 16 0 1965 2011
Entrez Id: 2707
Gene Symbol: GJB3
GJB3 		gap junction protein beta 3 0.621 0.462 2.2E-03
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		disease 0.900 strong 0.967 16 0 1998 2019
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		forkhead box P1 0.460 0.808 1.00
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		disease 0.500 definitive 1.000 16 0 2003 2018
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: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		disease 0.700 moderate 1.000 16 0 2000 2018
Entrez Id: 6611
Gene Symbol: SMS
SMS 		spermine synthase 0.491 0.846 0.97
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		disease 0.800 definitive 1.000 16 0 1969 2019
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 definitive 1.000 15 0 2008 2017
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1848488
Disease: Pierre Robin syndrome with fetal chondrodysplasia
Pierre Robin syndrome with fetal chondrodysplasia 		disease 0.820 definitive 1.000 15 0 1964 2015
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia 		disease 1.000 definitive 1.000 15 0 1964 2015
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		disease 1.000 definitive 0.985 15 0 1991 2020
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: 4595
Gene Symbol: MUTYH
MUTYH 		mutY DNA glycosylase 0.521 0.769 1.3E-18
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		disease 0.710 definitive 1.000 15 0 1987 2018
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2 		protein kinase AMP-activated non-catalytic subunit gamma 2 0.582 0.654 1.00
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.500 definitive 1.000 15 0 1995 2019
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3 		POU class 4 homeobox 3 0.700 0.538 0.92
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.360 definitive 1.000 15 0 1996 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		disease 0.600 definitive 0.983 15 0 2000 2017