Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ALK Q9UM73 ALK receptor tyrosine kinase Kinase 3.2E-06 0.396 0.846 6 21
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 44 888
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
BARD1 Q99728 BRCA1 associated RING domain 1 1.4E-24 0.597 0.538 7 145
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 22 2439
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731 15 220
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 68 2953
BTK Q06187 Bruton tyrosine kinase Kinase 1.00 0.464 0.808 8 83
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808 48 209
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462 32 342
POLE Q07864 DNA polymerase epsilon, catalytic subunit 8.0E-27 0.526 0.731 10 9
ERBB2 P04626 erb-b2 receptor tyrosine kinase 2 Kinase 6.0E-03 0.328 0.923 23 28
ERBB3 P21860 erb-b2 receptor tyrosine kinase 3 Kinase 1.7E-15 0.448 0.808 12 7
ESR1 P03372 estrogen receptor 1 Nuclear receptor 1.00 0.324 0.962 4 11
XPO1 O14980 exportin 1 Receptor 1.00 0.504 0.692 5 2
FBXW7 Q969H0 F-box and WD repeat domain containing 7 Enzyme modulator 1.00 0.465 0.808 18 7
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 82 76
FGFR4 P22455 fibroblast growth factor receptor 4 Kinase 7.2E-13 0.490 0.769 3 4
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692 11 9
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 71 21
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808 18 2
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 86 26
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 25 18