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: 84059
Gene Symbol: ADGRV1
ADGRV1 		adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 disputed 1.000 11 0 2013 2018
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		disease 0.940 definitive 1.000 8 0 1998 2018
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		otoferlin 0.691 0.385 5.4E-39
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease 0.500 definitive 1.000 6 0 1999 2014
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		otoferlin 0.691 0.385 5.4E-39
CUI: C1832828
Disease: Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 9 		disease 0.960 definitive 1.000 6 0 1998 2019
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: 4647
Gene Symbol: MYO7A
MYO7A 		myosin VIIA 0.585 0.423 1.6E-38
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.400 definitive 0.960 11 0 1997 2019
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		myosin VIIA 0.585 0.423 1.6E-38
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 definitive 1.000 9 0 1956 2017
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		myosin VIIA 0.585 0.423 1.6E-38
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		disease 1.000 definitive 0.990 9 0 1956 2020
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		myosin VIIA 0.585 0.423 1.6E-38
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		disease 0.700 definitive 0.974 9 0 1956 2017
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		myosin VIIA 0.585 0.423 1.6E-38
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		disease 0.500 definitive 1.000 9 0 1956 2017
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		myosin VIIA 0.585 0.423 1.6E-38
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		disease 0.500 definitive 1.000 9 0 1956 2017
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		disease 0.710 definitive 1.000 11 0 1998 2018
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		disease 0.320 definitive 1.000 11 0 2001 2018
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		disease 0.900 definitive 0.973 8 0 1999 2019
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		sodium voltage-gated channel alpha subunit 10 0.566 0.692 9.9E-38
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		phenotype 0.300 disputed 1.000 8 0 1998 2017
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		sodium voltage-gated channel alpha subunit 10 0.566 0.692 9.9E-38
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias 		phenotype 0.300 disputed 1.000 8 0 1998 2017
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		sodium voltage-gated channel alpha subunit 10 0.566 0.692 9.9E-38
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		disease 0.300 disputed 1.000 8 0 1998 2017
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		sodium voltage-gated channel alpha subunit 10 0.566 0.692 9.9E-38
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.800 disputed 0.929 8 0 1998 2019
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		sodium voltage-gated channel alpha subunit 10 0.566 0.692 9.9E-38
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm 		phenotype 0.300 disputed 1.000 8 0 1998 2017
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		sodium voltage-gated channel alpha subunit 10 0.566 0.692 9.9E-38
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		disease 0.300 disputed 1.000 8 0 1998 2017
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		sodium voltage-gated channel alpha subunit 10 0.566 0.692 9.9E-38
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		disease 0.500 disputed 1.000 8 0 1998 2017
Entrez Id: 340990
Gene Symbol: OTOG
OTOG 		otogelin 0.805 0.231 6.6E-37
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 definitive 1.000 6 0 1997 2017
Entrez Id: 9557
Gene Symbol: CHD1L
CHD1L 		chromodomain helicase DNA binding protein 1 like 0.631 0.577 1.0E-36
CUI: C1968949
Disease: Cakut
Cakut 		disease 0.510 limited 1.000 2 0 2012 2014
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4 		RecQ like helicase 4 0.496 0.808 3.3E-35
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		disease 1.000 definitive 0.986 8 0 1999 2019
Entrez Id: 132884
Gene Symbol: EVC2
EVC2 		EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		disease 1.000 definitive 1.000 4 0 2002 2018