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: 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: 2707
Gene Symbol: GJB3
GJB3 		gap junction protein beta 3 0.621 0.462 2.2E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.500 disputed 1.000 9 0 1998 2019