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
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885 22 83
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808 18 2
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769 16 43
SF3B2 Q13435 splicing factor 3b subunit 2 1.00 0.780 0.308 9 2
CASC11 cancer susceptibility 11 0.641 0.577 6 7
CNOT9 Q92600 CCR4-NOT transcription complex subunit 9 0.99 0.769 0.192 5 4
PPP6C O00743 protein phosphatase 6 catalytic subunit 0.86 0.729 0.231 2 1
BCL2L12 Q9HB09 BCL2 like 12 3.8E-09 0.606 0.654 2 1
STK19 P49842 serine/threonine kinase 19 6.7E-09 0.691 0.500 2 1
KNSTRN Q9Y448 kinetochore localized astrin (SPAG5) binding protein 2.1E-06 0.729 0.500 2 1
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 71 21
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 66 35
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 37 14
FBXW7 Q969H0 F-box and WD repeat domain containing 7 Enzyme modulator 1.00 0.465 0.808 18 7
GNA11 P29992 G protein subunit alpha 11 Enzyme modulator 0.89 0.563 0.731 5 8
RAC1 P63000 Rac family small GTPase 1 Enzyme modulator 0.76 0.429 0.962 5 7
EZH2 Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 1.00 0.376 0.885 6 16
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
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 86 26