Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ROCK1 Q13464 Rho associated coiled-coil containing protein kinase 1 Kinase 1.00 0.513 0.731 2 1
FGFR4 P22455 fibroblast growth factor receptor 4 Kinase 7.2E-13 0.490 0.769 3 4
ESR1 P03372 estrogen receptor 1 Nuclear receptor 1.00 0.324 0.962 4 11
XPO1 O14980 exportin 1 Receptor 1.00 0.504 0.692 5 2
ALK Q9UM73 ALK receptor tyrosine kinase Kinase 3.2E-06 0.396 0.846 6 21
BARD1 Q99728 BRCA1 associated RING domain 1 1.4E-24 0.597 0.538 7 145
RHOA P61586 ras homolog family member A Enzyme modulator 0.60 0.502 0.808 7 4
BTK Q06187 Bruton tyrosine kinase Kinase 1.00 0.464 0.808 8 83
SF3B1 O75533 splicing factor 3b subunit 1 Nucleic acid binding 1.00 0.511 0.731 8 9
SF3B2 Q13435 splicing factor 3b subunit 2 1.00 0.780 0.308 9 2
POLE Q07864 DNA polymerase epsilon, catalytic subunit 8.0E-27 0.526 0.731 10 9
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692 11 9
ERBB3 P21860 erb-b2 receptor tyrosine kinase 3 Kinase 1.7E-15 0.448 0.808 12 7
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731 15 220
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808 16 133
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
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 22 2439
ERBB2 P04626 erb-b2 receptor tyrosine kinase 2 Kinase 6.0E-03 0.328 0.923 23 28
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 25 18
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577 26 6
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462 32 342
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 44 888
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 48 393