Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
XPO1 O14980 exportin 1 Receptor 1.00 0.504 0.692 5 2
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 84 390
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808 16 133
SF3B2 Q13435 splicing factor 3b subunit 2 1.00 0.780 0.308 9 2
SF3B1 O75533 splicing factor 3b subunit 1 Nucleic acid binding 1.00 0.511 0.731 8 9
ROCK1 Q13464 Rho associated coiled-coil containing protein kinase 1 Kinase 1.00 0.513 0.731 2 1
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
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577 26 6
POLE Q07864 DNA polymerase epsilon, catalytic subunit 8.0E-27 0.526 0.731 10 9
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 85 55
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 48 393
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
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808 18 2
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 71 21
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692 11 9
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
FGFR4 P22455 fibroblast growth factor receptor 4 Kinase 7.2E-13 0.490 0.769 3 4
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 82 76
FBXW7 Q969H0 F-box and WD repeat domain containing 7 Enzyme modulator 1.00 0.465 0.808 18 7
ESR1 P03372 estrogen receptor 1 Nuclear receptor 1.00 0.324 0.962 4 11
ERBB3 P21860 erb-b2 receptor tyrosine kinase 3 Kinase 1.7E-15 0.448 0.808 12 7
ERBB2 P04626 erb-b2 receptor tyrosine kinase 2 Kinase 6.0E-03 0.328 0.923 23 28