Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTCH1 Q13635 patched 1 1.00 0.398 0.885
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846