Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808
ABCA3 Q99758 ATP binding cassette subfamily A member 3 Transporter 6.6E-08 0.592 0.615