Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
POLE Q07864 DNA polymerase epsilon, catalytic subunit 8.0E-27 0.526 0.731 10 9
ERBB3 P21860 erb-b2 receptor tyrosine kinase 3 Kinase 1.7E-15 0.448 0.808 12 7
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808 18 2
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 66 35
ERBB2 P04626 erb-b2 receptor tyrosine kinase 2 Kinase 6.0E-03 0.328 0.923 23 28
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 71 21
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885 23 50
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885 22 83
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 37 14
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 84 390
B2M P61769 beta-2-microglobulin Immune response 0.56 0.447 0.846 12 6
RHOA P61586 ras homolog family member A Enzyme modulator 0.60 0.502 0.808 7 4
AKT2 P31751 AKT serine/threonine kinase 2 Kinase 0.64 0.474 0.769 4 4
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885 45 26
IDH2 P48735 isocitrate dehydrogenase (NADP(+)) 2 0.88 0.434 0.808 9 5
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846 26 30
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577 26 6
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808 16 133
FBXW7 Q969H0 F-box and WD repeat domain containing 7 Enzyme modulator 1.00 0.465 0.808 18 7
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885 10 24
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
EPHB2 P29323 EPH receptor B2 Kinase 1.00 0.374 0.846 2 3