Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808 40 115
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 28 41
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885 22 83
IDH2 P48735 isocitrate dehydrogenase (NADP(+)) 2 0.88 0.434 0.808 9 5
H3C11 P68431 H3 clustered histone 11 8.5E-03 0.663 0.308 2 2
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
NFE2L2 Q16236 nuclear factor, erythroid 2 like 2 Enzyme 3.6E-03 0.357 0.885 10 8
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
RAC1 P63000 Rac family small GTPase 1 Enzyme modulator 0.76 0.429 0.962 5 7
B2M P61769 beta-2-microglobulin Immune response 0.56 0.447 0.846 12 6
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 85 55
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 60 39
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846 26 30
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
MAP2K2 P36507 mitogen-activated protein kinase kinase 2 Kinase 0.97 0.534 0.731 8 15
MAPK1 P28482 mitogen-activated protein kinase 1 Kinase 1.00 0.330 0.923 3 1
U2AF1 P0DN76 Q01081 U2 small nuclear RNA auxiliary factor 1 Nucleic acid binding 0.99 0.604 0.577 9 2