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
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
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 68 2953
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 60 39
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808 48 209
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846 47 14
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 37 14
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 33 582
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808 33 229
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 28 41
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808 20 682
MUTYH Q9UIF7 mutY DNA glycosylase Enzyme 1.3E-18 0.521 0.769 16 130
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808 15 653
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731 15 220
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885 11 81
NFE2L2 Q16236 nuclear factor, erythroid 2 like 2 Enzyme 3.6E-03 0.357 0.885 10 8
DCC P43146 DCC netrin 1 receptor 0.99 0.471 0.808 9 18
BCL10 O95999 BCL10 immune signaling adaptor 0.34 0.491 0.769 9 13
CYTB P00156 cytochrome b 0.529 0.808 8 74
PPARG P37231 peroxisome proliferator activated receptor gamma Nuclear receptor 2.9E-02 0.358 0.885 8 22
FLCN Q8NFG4 folliculin 0.79 0.537 0.885 7 118
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808 6 81