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: 7157
Gene Symbol: TP53
TP53 		P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 0.700 None 0.947 1 68 1991 2019
Entrez Id: 238
Gene Symbol: ALK
ALK 		Q9UM73 ALK receptor tyrosine kinase Kinase 6 0.396 0.846 3.2E-06 0.610 None 1.000 1 3 2009 2012
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 1.000 3 3 2010 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 107 0.305 0.923 0.26 0.500 None 1.000 3 4 1999 2017
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		P00533 epidermal growth factor receptor Kinase 23 0.295 0.885 0.37 0.500 None 0.981 2 7 1988 2019
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		O75874 isocitrate dehydrogenase (NADP(+)) 1 18 0.424 0.808 2.6E-12 0.500 None 1.000 2 2 2008 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		P35222 catenin beta 1 70 0.303 0.885 1.00 0.480 None 0.889 1 2 2002 2017
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 1.000 1 20 2004 2018
Entrez Id: 3418
Gene Symbol: IDH2
IDH2 		P48735 isocitrate dehydrogenase (NADP(+)) 2 9 0.434 0.808 0.88 0.200 None 1.000 1 2 2010 2018
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		P84243 H3.3 histone A 68 0.559 0.692 0.12 0.130 None 1.000 1 1 2013 2019
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		P01111 NRAS proto-oncogene, GTPase Enzyme modulator 37 0.390 0.808 0.49 0.130 None 1.000 1 2 2001 2016
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1 		P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 10 0.477 0.885 1.00 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.100 None 1.000 1 2 2016 2016