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: 7299
Gene Symbol: TYR
TYR 		P14679 tyrosinase Enzyme 29 0.473 0.808 5.0E-32 0.200 None 1.000 0 3 1987 2020
Entrez Id: 4286
Gene Symbol: MITF
MITF 		O75030 melanocyte inducing transcription factor 25 0.499 0.808 0.98 0.160 None 1.000 0 1 1998 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 86 0.343 0.885 1.00 0.110 None 1.000 0 1 2018 2018
Entrez Id: 6608
Gene Symbol: SMO
SMO 		Q99835 smoothened, frizzled class receptor G-protein coupled receptor 17 0.489 0.731 4.3E-07 0.100 None 0 1