Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769