Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885 45 26
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846 26 30
ERBB2 P04626 erb-b2 receptor tyrosine kinase 2 Kinase 6.0E-03 0.328 0.923 23 28
KIT P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 0.98 0.366 0.808 21 66
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885 10 24
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
ARAF P10398 A-Raf proto-oncogene, serine/threonine kinase Kinase 0.96 0.619 0.654 3 2
SF3B1 O75533 splicing factor 3b subunit 1 Nucleic acid binding 1.00 0.511 0.731 8 9
CRNKL1 Q9BZJ0 crooked neck pre-mRNA splicing factor 1 Nucleic acid binding 2.7E-06 0.711 0.385 2 1
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 84 390
MYC P01106 MYC proto-oncogene, bHLH transcription factor Transcription factor 1.00 0.344 0.923 6 8
IRF3 Q14653 interferon regulatory factor 3 Transcription factor 1.2E-04 0.517 0.808 3 2