Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
POLR2F P61218 RNA polymerase II subunit F Enzyme 1.3E-02 0.722 0.308
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
EDN3 P14138 endothelin 3 Signaling 2.5E-02 0.608 0.577
IHH Q14623 Indian hedgehog signaling molecule 0.31 0.573 0.538