Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
P22607 fibroblast growth factor receptor 3 Kinase 60 0.391 0.846 1.6E-05 0.700 None 0.971 1 2 1997 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF
P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.500 None 0.944 1 11 2003 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
P01116 KRAS proto-oncogene, GTPase Enzyme modulator 66 0.320 0.923 7.9E-04 0.500 None 1.000 1 5 2001 2019
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
P01111 NRAS proto-oncogene, GTPase Enzyme modulator 37 0.390 0.808 0.49 0.500 None 1.000 1 6 1992 2019
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
P49917 DNA ligase 4 9 0.478 0.846 4.2E-06 0.410 None 1.000 0 1 2002 2002
Entrez Id: 7157
Gene Symbol: TP53
TP53
P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 0.200 None 1.000 1 26 1992 2020
Entrez Id: 567
Gene Symbol: B2M
B2M
P61769 beta-2-microglobulin Immune response 12 0.447 0.846 0.56 0.200 None 1.000 1 3 1988 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 85 0.292 0.923 1.00 0.200 None 0.976 1 3 2002 2020
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
O14686 lysine methyltransferase 2D 26 0.465 0.808 1.00 0.180 None 1.000 0 1 1989 2020
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
P11802 cyclin dependent kinase 4 Kinase 7 0.412 0.808 6.3E-02 0.150 None 1.000 1 2 2007 2019
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
P01112 HRas proto-oncogene, GTPase Enzyme modulator 71 0.378 0.885 8.0E-02 0.130 None 1.000 1 8 1990 2016
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
P48735 isocitrate dehydrogenase (NADP(+)) 2 9 0.434 0.808 0.88 0.120 None 1.000 1 2 2016 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.120 None 1.000 1 3 2016 2019
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
O75874 isocitrate dehydrogenase (NADP(+)) 1 18 0.424 0.808 2.6E-12 0.110 None 1.000 1 2 2016 2018
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
O96017 checkpoint kinase 2 Kinase 48 0.460 0.808 1.2E-24 0.100 None 0 1