Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
CRNKL1 Q9BZJ0 crooked neck pre-mRNA splicing factor 1 Nucleic acid binding 2.7E-06 0.711 0.385 2 1
PPP6C O00743 protein phosphatase 6 catalytic subunit 0.86 0.729 0.231 2 1
BCL2L12 Q9HB09 BCL2 like 12 3.8E-09 0.606 0.654 2 1
STK19 P49842 serine/threonine kinase 19 6.7E-09 0.691 0.500 2 1
KNSTRN Q9Y448 kinetochore localized astrin (SPAG5) binding protein 2.1E-06 0.729 0.500 2 1
IRF3 Q14653 interferon regulatory factor 3 Transcription factor 1.2E-04 0.517 0.808 3 2
ARAF P10398 A-Raf proto-oncogene, serine/threonine kinase Kinase 0.96 0.619 0.654 3 2
GNA11 P29992 G protein subunit alpha 11 Enzyme modulator 0.89 0.563 0.731 5 8
RAC1 P63000 Rac family small GTPase 1 Enzyme modulator 0.76 0.429 0.962 5 7
CNOT9 Q92600 CCR4-NOT transcription complex subunit 9 0.99 0.769 0.192 5 4
EZH2 Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 1.00 0.376 0.885 6 16
MYC P01106 MYC proto-oncogene, bHLH transcription factor Transcription factor 1.00 0.344 0.923 6 8
CASC11 cancer susceptibility 11 0.641 0.577 6 7
CDK4 P11802 cyclin dependent kinase 4 Kinase 6.3E-02 0.412 0.808 7 2
MAP2K2 P36507 mitogen-activated protein kinase kinase 2 Kinase 0.97 0.534 0.731 8 15
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
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885 10 24
B2M P61769 beta-2-microglobulin Immune response 0.56 0.447 0.846 12 6
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769 16 43
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
KIT P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 0.98 0.366 0.808 21 66
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885 22 83