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: 4286
Gene Symbol: MITF
MITF 		O75030 melanocyte inducing transcription factor 25 0.499 0.808 0.98 1.000 None 1.000 6 20 1967 2019
Entrez Id: 6663
Gene Symbol: SOX10
SOX10 		P56693 SRY-box transcription factor 10 19 0.461 0.808 0.99 0.140 None 1.000 1 4 2012 2019
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		P61218 RNA polymerase II subunit F Enzyme 20 0.722 0.308 1.3E-02 0.100 None 1.000 1 4 2018 2018