Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ING1 Q9UK53 inhibitor of growth family member 1 Nucleic acid binding 9.7E-03 0.573 0.692 1 3
H3C11 P68431 H3 clustered histone 11 8.5E-03 0.663 0.308 2 2
MAPK1 P28482 mitogen-activated protein kinase 1 Kinase 1.00 0.330 0.923 3 1
RAC1 P63000 Rac family small GTPase 1 Enzyme modulator 0.76 0.429 0.962 5 7
RHOA P61586 ras homolog family member A Enzyme modulator 0.60 0.502 0.808 7 4
MAP2K2 P36507 mitogen-activated protein kinase kinase 2 Kinase 0.97 0.534 0.731 8 15
IDH2 P48735 isocitrate dehydrogenase (NADP(+)) 2 0.88 0.434 0.808 9 5
U2AF1 P0DN76 Q01081 U2 small nuclear RNA auxiliary factor 1 Nucleic acid binding 0.99 0.604 0.577 9 2
NFE2L2 Q16236 nuclear factor, erythroid 2 like 2 Enzyme 3.6E-03 0.357 0.885 10 8
B2M P61769 beta-2-microglobulin Immune response 0.56 0.447 0.846 12 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
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885 22 83
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885 23 50
ERBB2 P04626 erb-b2 receptor tyrosine kinase 2 Kinase 6.0E-03 0.328 0.923 23 28
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
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 28 41
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808 40 115
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 60 39
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 71 21
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 84 390