Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MAX P61244 MYC associated factor X Transcription factor 0.83 0.553 0.769 4 13
SMARCE1 Q969G3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 1.00 0.572 0.769 4 13
POLD1 P28340 DNA polymerase delta 1, catalytic subunit 2.4E-06 0.507 0.769 3 3
CDKN2B-AS1 CDKN2B antisense RNA 1 0.491 0.769 2 6
RAD51B O15315 RAD51 paralog B 2.1E-15 0.556 0.769 2 1
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808 48 209
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808 33 229
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808 25 24
STK11 Q15831 serine/threonine kinase 11 Kinase 0.99 0.435 0.808 22 129
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808 21 61
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808 20 682
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808 16 133
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808 15 653
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808 15 167
TSC2 P49815 TSC complex subunit 2 Enzyme modulator 1.00 0.439 0.808 13 244
CDH1 P12830 cadherin 1 0.15 0.401 0.808 10 145
CDK4 P11802 cyclin dependent kinase 4 Kinase 6.3E-02 0.412 0.808 7 2
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808 6 81
RAD50 Q92878 RAD50 double strand break repair protein 3.4E-27 0.556 0.808 3 166
BLM P54132 BLM RecQ like helicase 1.5E-15 0.535 0.808 2 125
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 68 2953
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 43 27
VHL P40337 von Hippel-Lindau tumor suppressor Enzyme 8.0E-02 0.443 0.846 14 186
HFE Q30201 homeostatic iron regulator 2.6E-08 0.436 0.846 13 13