Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 60 39
NFE2L2 Q16236 nuclear factor, erythroid 2 like 2 Enzyme 3.6E-03 0.357 0.885 10 8
ERBB2 P04626 erb-b2 receptor tyrosine kinase 2 Kinase 6.0E-03 0.328 0.923 23 28
H3C11 P68431 H3 clustered histone 11 8.5E-03 0.663 0.308 2 2
ING1 Q9UK53 inhibitor of growth family member 1 Nucleic acid binding 9.7E-03 0.573 0.692 1 3
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
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
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
RAC1 P63000 Rac family small GTPase 1 Enzyme modulator 0.76 0.429 0.962 5 7
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
MAP2K2 P36507 mitogen-activated protein kinase kinase 2 Kinase 0.97 0.534 0.731 8 15
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577 26 6
U2AF1 P0DN76 Q01081 U2 small nuclear RNA auxiliary factor 1 Nucleic acid binding 0.99 0.604 0.577 9 2
MAPK1 P28482 mitogen-activated protein kinase 1 Kinase 1.00 0.330 0.923 3 1
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
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52