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 0.120 None 1.000 1 19 2016 2018
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		P00533 epidermal growth factor receptor Kinase 23 0.295 0.885 0.37 0.100 None 1.000 1 2 2016 2016
Entrez Id: 8354
Gene Symbol: H3C11
H3C11 		P68431 H3 clustered histone 11 2 0.663 0.308 8.5E-03 0.100 None 1.000 1 2 2016 2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.100 None 1.000 1 1 2016 2016
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 0.100 None 1.000 1 9 2016 2016
Entrez Id: 3418
Gene Symbol: IDH2
IDH2 		P48735 isocitrate dehydrogenase (NADP(+)) 2 9 0.434 0.808 0.88 0.100 None 1.000 1 2 2016 2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		O75874 isocitrate dehydrogenase (NADP(+)) 1 18 0.424 0.808 2.6E-12 0.100 None 1.000 1 2 2016 2016
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		P84243 H3.3 histone A 68 0.559 0.692 0.12 0.100 None 1.000 1 2 2016 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		P11362 fibroblast growth factor receptor 1 Kinase 27 0.362 0.885 1.00 0.100 None 1.000 1 3 2016 2016
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		Q04771 activin A receptor type 1 Kinase 4 0.535 0.731 0.33 0.100 None 1.000 1 3 2016 2016