Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease 0.700 None 1.000 14 11 2002 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease 0.700 None 0.980 3 3 1985 2020
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18 		solute carrier family 22 member 18 0.595 0.692 6.5E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease 0.600 None 1.000 0 1 1998 1998
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease 0.500 None 0.985 1 2 1988 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease 0.500 None 0.972 1 2 2002 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease 0.500 None 0.942 0 1 1989 2020
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease 0.500 moderate 1.000 0 1 2011 2020
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease 0.430 limited 1.000 0 4 2000 2009
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease 0.200 None 1.000 0 1 2000 2017
Entrez Id: 6093
Gene Symbol: ROCK1
ROCK1 		Rho associated coiled-coil containing protein kinase 1 0.513 0.731 1.00
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease 0.110 None 1.000 1 1 2010 2020
Entrez Id: 5519
Gene Symbol: PPP2R1B
PPP2R1B 		protein phosphatase 2 scaffold subunit Abeta 0.678 0.423 3.0E-15
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease 0.100 None 0 1