Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		P29033 gap junction protein beta 2 Cell-cell junction 62 0.441 0.846 6.6E-16 0.120 None 1.000 0 1 2007 2012
Entrez Id: 1690
Gene Symbol: COCH
COCH 		O43405 cochlin Receptor 2 0.659 0.385 1.2E-07 0.100 None 1.000 1 1 2018 2018
Entrez Id: 4286
Gene Symbol: MITF
MITF 		O75030 melanocyte inducing transcription factor 25 0.499 0.808 0.98 0.100 None 0 1
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		O75445 usherin Enzyme modulator 41 0.579 0.692 1.6E-94 0.100 None 0 4