Source: CLINVAR

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: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		disease 0.690 definitive 1.000 0 15 1994 2018
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		disease 0.150 None 1.000 0 1 2005 2015