Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
XPA P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 7.9E-05 0.520 0.846
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808
KCNC1 P48547 potassium voltage-gated channel subfamily C member 1 Ion channel 0.99 0.711 0.154
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
ST20-MTHFS ST20-MTHFS readthrough 7.6E-03 0.805 0.115
MTHFS P49914 methenyltetrahydrofolate synthetase Enzyme 2.6E-04 0.678 0.500
SCARB2 Q14108 scavenger receptor class B member 2 Receptor 8.9E-05 0.606 0.615