Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 GeneticVariation CLINVAR Intragenic mutation of the VHL gene was found exclusively in clear-cell or variant-type RCCs at a frequency of 51% (104/202). 11921283

2002
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 GeneticVariation CLINVAR Inhibition of transcription elongation by the VHL tumor suppressor protein. 7660122

1995
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 CausalMutation CLINVAR

Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.500 CausalMutation CLINVAR Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. 25687217

2015
Entrez Id: 6921
Gene Symbol: ELOC
ELOC
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.460 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.160 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.110 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.110 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 10992
Gene Symbol: SF3B2
SF3B2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016