Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654
FH P07954 fumarate hydratase Enzyme 8.8E-02 0.489 0.846
NTHL1 P78549 nth like DNA glycosylase 1 Enzyme 5.7E-10 0.623 0.615
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
PRC1-AS1 PRC1 antisense RNA 1 0.931 0.154
PRC1 O43663 protein regulator of cytokinesis 1 Cellular structure 2.7E-07 0.599 0.692