Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692
GCH1 P30793 GTP cyclohydrolase 1 Enzyme 0.90 0.511 0.846
RAB27A P51159 RAB27A, member RAS oncogene family 3.0E-07 0.585 0.692
CCDC65 Q8IXS2 coiled-coil domain containing 65 5.8E-11 0.674 0.500