Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 68 2953
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 22 2439
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 44 888
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 48 393
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 84 390
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462 32 342
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731 15 220
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808 48 209
BARD1 Q99728 BRCA1 associated RING domain 1 1.4E-24 0.597 0.538 7 145
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808 16 133
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
BTK Q06187 Bruton tyrosine kinase Kinase 1.00 0.464 0.808 8 83
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 82 76
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 85 55
ERBB2 P04626 erb-b2 receptor tyrosine kinase 2 Kinase 6.0E-03 0.328 0.923 23 28
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 86 26
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 71 21
ALK Q9UM73 ALK receptor tyrosine kinase Kinase 3.2E-06 0.396 0.846 6 21
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 25 18
ESR1 P03372 estrogen receptor 1 Nuclear receptor 1.00 0.324 0.962 4 11
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692 11 9
POLE Q07864 DNA polymerase epsilon, catalytic subunit 8.0E-27 0.526 0.731 10 9