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
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 25 18
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808 16 133
XPO1 O14980 exportin 1 Receptor 1.00 0.504 0.692 5 2
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 68 2953
SF3B1 O75533 splicing factor 3b subunit 1 Nucleic acid binding 1.00 0.511 0.731 8 9
ESR1 P03372 estrogen receptor 1 Nuclear receptor 1.00 0.324 0.962 4 11
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 86 26
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 85 55
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 82 76
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808 48 209
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 44 888
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
BTK Q06187 Bruton tyrosine kinase Kinase 1.00 0.464 0.808 8 83
ALK Q9UM73 ALK receptor tyrosine kinase Kinase 3.2E-06 0.396 0.846 6 21
FGFR4 P22455 fibroblast growth factor receptor 4 Kinase 7.2E-13 0.490 0.769 3 4
ROCK1 Q13464 Rho associated coiled-coil containing protein kinase 1 Kinase 1.00 0.513 0.731 2 1
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 71 21
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
FBXW7 Q969H0 F-box and WD repeat domain containing 7 Enzyme modulator 1.00 0.465 0.808 18 7
RHOA P61586 ras homolog family member A Enzyme modulator 0.60 0.502 0.808 7 4
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343