Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
CASC11 cancer susceptibility 11 0.641 0.577 6 7
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808 18 2
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
CRNKL1 Q9BZJ0 crooked neck pre-mRNA splicing factor 1 Nucleic acid binding 2.7E-06 0.711 0.385 2 1
IRF3 Q14653 interferon regulatory factor 3 Transcription factor 1.2E-04 0.517 0.808 3 2
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769 16 43
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
CDK4 P11802 cyclin dependent kinase 4 Kinase 6.3E-02 0.412 0.808 7 2
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
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
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
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885 45 26
PPP6C O00743 protein phosphatase 6 catalytic subunit 0.86 0.729 0.231 2 1
GNA11 P29992 G protein subunit alpha 11 Enzyme modulator 0.89 0.563 0.731 5 8
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846 26 30
ARAF P10398 A-Raf proto-oncogene, serine/threonine kinase Kinase 0.96 0.619 0.654 3 2