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: 124590
Gene Symbol: USH1G
USH1G 		USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 definitive 1.000 9 0 1992 2016
Entrez Id: 25861
Gene Symbol: WHRN
WHRN 		whirlin 0.670 0.385 7.7E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 definitive 1.000 9 0 2003 2017
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: 65217
Gene Symbol: PCDH15
PCDH15 		protocadherin related 15 0.601 0.577 8.0E-25
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 definitive 1.000 7 0 2001 2014
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		cadherin related 23 0.539 0.769 3.2E-06
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 definitive 1.000 6 0 1966 2011
Entrez Id: 10083
Gene Symbol: USH1C
USH1C 		USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 definitive 1.000 4 0 2000 2014
Entrez Id: 23568
Gene Symbol: ARL2BP
ARL2BP 		ADP ribosylation factor like GTPase 2 binding protein 0.647 0.654 3.3E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 limited 1.000 2 0 2013 2018