Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962
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
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
STK11 Q15831 serine/threonine kinase 11 Kinase 0.99 0.435 0.808
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731
FBXO11 Q86XK2 F-box protein 11 Enzyme 1.00 0.604 0.692
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
MUTYH Q9UIF7 mutY DNA glycosylase Enzyme 1.3E-18 0.521 0.769
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731