Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 86 26
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 85 55
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 84 390
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 71 21
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692 68 3
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 44 888
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808 40 115
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 37 14
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808 33 229
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462 32 342
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885 27 63
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885 23 50
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808 20 682
MYCN P04198 MYCN proto-oncogene, bHLH transcription factor Transcription factor 0.89 0.454 0.808 18 14
FBXW7 Q969H0 F-box and WD repeat domain containing 7 Enzyme modulator 1.00 0.465 0.808 18 7
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808 18 2
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846 14 22
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885 10 24
POLE Q07864 DNA polymerase epsilon, catalytic subunit 8.0E-27 0.526 0.731 10 9
MYCNOS P40205 MYCN opposite strand 0.700 0.462 9 5