Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462 32 342
MYCNOS P40205 MYCN opposite strand 0.700 0.462 9 5
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692 68 3
POLE Q07864 DNA polymerase epsilon, catalytic subunit 8.0E-27 0.526 0.731 10 9
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
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808 20 682
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808 18 2
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
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846 14 22
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 86 26
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 71 21
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 44 888
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
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885 10 24
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
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