Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 84 390
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 85 55
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
ESR1 P03372 estrogen receptor 1 Nuclear receptor 1.00 0.324 0.962 4 11
ERBB2 P04626 erb-b2 receptor tyrosine kinase 2 Kinase 6.0E-03 0.328 0.923 23 28
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 86 26
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
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 71 21
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 68 2953
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 82 76
ALK Q9UM73 ALK receptor tyrosine kinase Kinase 3.2E-06 0.396 0.846 6 21
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808 16 133
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808 18 2
ERBB3 P21860 erb-b2 receptor tyrosine kinase 3 Kinase 1.7E-15 0.448 0.808 12 7
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808 48 209
BTK Q06187 Bruton tyrosine kinase Kinase 1.00 0.464 0.808 8 83
FBXW7 Q969H0 F-box and WD repeat domain containing 7 Enzyme modulator 1.00 0.465 0.808 18 7
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 25 18
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 48 393
FGFR4 P22455 fibroblast growth factor receptor 4 Kinase 7.2E-13 0.490 0.769 3 4
RHOA P61586 ras homolog family member A Enzyme modulator 0.60 0.502 0.808 7 4