Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ABRAXAS1 Q6UWZ7 abraxas 1, BRCA1 A complex subunit 5.1E-07 0.760 0.269 3 3
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 33 582
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 44 888
BAP1 Q92560 BRCA1 associated protein 1 Enzyme 0.99 0.454 0.731 9 72
BARD1 Q99728 BRCA1 associated RING domain 1 1.4E-24 0.597 0.538 7 145
BLM P54132 BLM RecQ like helicase 1.5E-15 0.535 0.808 2 125
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731 5 92
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 22 2439
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 68 2953
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731 15 220
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462 32 342
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
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885 22 83
CDKN2B-AS1 CDKN2B antisense RNA 1 0.491 0.769 2 6
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808 48 209
CTNNA1 P35221 catenin alpha 1 Cellular structure 0.97 0.584 0.538 2 4
DICER1 Q9UPY3 dicer 1, ribonuclease III Enzyme 1.00 0.446 0.846 5 185
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654 9 26
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808 6 81
FBXO11 Q86XK2 F-box protein 11 Enzyme 1.00 0.604 0.692 18 561
FH P07954 fumarate hydratase Enzyme 8.8E-02 0.489 0.846 7 136
FLCN Q8NFG4 folliculin 0.79 0.537 0.885 7 118
HFE Q30201 homeostatic iron regulator 2.6E-08 0.436 0.846 13 13