Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731