Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885