Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808
KCNJ11 Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 1.1E-02 0.529 0.615
HNF4A P41235 hepatocyte nuclear factor 4 alpha Nuclear receptor 0.15 0.461 0.808