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: 7428
Gene Symbol: VHL
VHL 		von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.700 strong 0.970 3 5 1989 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.700 None 1.000 1 2 1998 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.500 None 0.900 1 26 1991 2019
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		BRCA1 associated protein 1 0.454 0.731 0.99
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.500 None 0.967 1 1 2011 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.500 None 1.000 1 7 2006 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.500 None 0.983 1 7 2004 2020
Entrez Id: 6921
Gene Symbol: ELOC
ELOC 		elongin C 0.656 0.500 0.74
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.460 None 1.000 1 2 2013 2019
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2 		nuclear factor, erythroid 2 like 2 0.357 0.885 3.6E-03
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.160 None 0.857 1 2 2016 2019
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.110 None 1.000 1 2 1994 2016
Entrez Id: 6009
Gene Symbol: RHEB
RHEB 		Ras homolog, mTORC1 binding 0.631 0.577 0.98
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.110 None 1.000 1 2 2015 2016
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1 		splicing factor 3b subunit 1 0.511 0.731 1.00
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 10992
Gene Symbol: SF3B2
SF3B2 		splicing factor 3b subunit 2 0.780 0.308 1.00
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.100 None 1.000 1 1 2016 2016