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: 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: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
disease 0.700 definitive 0.941 6 0 2001 2016
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
protocadherin related 15 0.601 0.577 8.0E-25
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
disease 0.500 definitive 0.947 7 0 2001 2016
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
disease 0.500 definitive 0.947 4 0 1996 2017
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
disease 0.450 definitive 1.000 9 0 2002 2016