Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
RHOBTB2 Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 1.3E-02 0.631 0.615