Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 137 1044
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
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 85 55
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 71 21
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
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 48 393
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808 48 209
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885 45 26
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 44 888
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808 43 3
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 37 14
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846 26 30
STK11 Q15831 serine/threonine kinase 11 Kinase 0.99 0.435 0.808 22 129
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885 22 83
KIT P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 0.98 0.366 0.808 21 66
BAP1 Q92560 BRCA1 associated protein 1 Enzyme 0.99 0.454 0.731 9 72
MAP2K2 P36507 mitogen-activated protein kinase kinase 2 Kinase 0.97 0.534 0.731 8 15
CDK4 P11802 cyclin dependent kinase 4 Kinase 6.3E-02 0.412 0.808 7 2
GNA11 P29992 G protein subunit alpha 11 Enzyme modulator 0.89 0.563 0.731 5 8
PDGFRA P16234 platelet derived growth factor receptor alpha Kinase 1.00 0.415 0.808 4 20
ERBB4 Q15303 erb-b2 receptor tyrosine kinase 4 Kinase 1.00 0.455 0.846 2 8
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962 2 3