Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation LHGDN Expression of HIF-1 and ubiquitin in conventional renal cell carcinoma: relationship to mutations of the von Hippel-Lindau tumor suppressor gene. 12781449

2003

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation LHGDN Elevated number of circulating EPCs seems to be related to high EPO production from RCC with novel double somatic mutation of the VHL gene in this patient. 17696210

2008

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation LHGDN Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from The Netherlands cohort study. 15932632

2005

Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation LHGDN Effect of radiation and ibuprofen on normoxic renal carcinoma cells overexpressing hypoxia-inducible factors by loss of von Hippel-Lindau tumor suppressor gene function. 15217953

2004

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation LHGDN Somatic VHL alteration and its impact on prognosis in patients with clear cell renal cell carcinoma. 15809750

2005

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation LHGDN It is of great interest to know whether RCCs occurring in the dialytic kidneys harbour the same or similar mutations of the von Hippel-Lindau (VHL) gene as conventional dialysis-unrelated clear cell RCCs so often do. 17438007

2007

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation LHGDN The purpose of this study was to determine the existence of vhl gene mutations in renal tumour tissue among patients with sporadic RCC and to assess the effects on the structure of the VHL protein. 17919893

2007

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation LHGDN JAK kinases promote invasiveness in VHL-mediated renal cell carcinoma by a suppressor of cytokine signaling-regulated, HIF-independent mechanism. 17898043

2007

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation LHGDN The von Hipple-Lindau (VHL) gene is the tumor suppressor gene predisposing to both sporadic renal cell carcinoma (RCC) and von Hippel-Lindau disease. 12016154

2002

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation LHGDN Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849

2004

Entrez Id: 7030
Gene Symbol: TFE3
TFE3
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation LHGDN Translocation renal cell carcinoma: lack of negative impact due to lymph node spread. 18278810

2008

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation LHGDN We demonstrated synergy of IFN-alpha and 5-FU in five RCC cell lines with wild-type p53. 17275163

2007

Entrez Id: 4233
Gene Symbol: MET
MET
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 GeneticVariation LHGDN Hereditary papillary renal carcinoma type I. 15579033

2004

Entrez Id: 4233
Gene Symbol: MET
MET
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 GeneticVariation LHGDN Germline and somatic c-met mutations in multifocal/bilateral and sporadic papillary renal carcinomas of selected patients. 18636147

2008

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.300 GeneticVariation LHGDN These results indicate that the deletion in the INK4a/ARF locus might contribute to tumor progression in RCC at least partly by functional inactivation of wild-type p53. 17201148

2007

Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.200 GeneticVariation LHGDN Germline SDHB mutations and familial renal cell carcinoma. 18728283

2008

Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation LHGDN Somatic VHL alteration and its impact on prognosis in patients with clear cell renal cell carcinoma. 15809750

2005

Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation LHGDN Effect of radiation and ibuprofen on normoxic renal carcinoma cells overexpressing hypoxia-inducible factors by loss of von Hippel-Lindau tumor suppressor gene function. 15217953

2004

Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation LHGDN Expression of HIF-1 and ubiquitin in conventional renal cell carcinoma: relationship to mutations of the von Hippel-Lindau tumor suppressor gene. 12781449

2003

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation LHGDN The VDR gene polymorphisms at three locations, BsmI, ApaI and TaqI, were genotyped in 135 RCC patients and 150 controls in a Japanese population. 17593089

2007

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation LHGDN A total of 102 RCC patients and 204 controls were genotyped for a previously described TaqI restriction fragment length polymorphism (RFLP) of the VDR gene. 12402975

2002

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation LHGDN We investigated the associations of three polymorphisms (-2578C/A, -1154G/A, and -634C/G) in the VEGF gene with the clinicopathologic parameters and survival of 213 patients with RCC. 17287073

2007

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation LHGDN Three common VDR gene polymorphisms (BsmI, FokI, TaqI) were evaluated among 925 RCC cases and 1192 controls enrolled in a hospital-based case-control study conducted in Central and Eastern Europe. 18246496

2008

Entrez Id: 4193
Gene Symbol: MDM2
MDM2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation LHGDN To investigate the effect of the MDM2 SNP309 polymorphism on MDM2 expression, immunohistochemistry was done in genotyped RCC tissues. 17634539

2007

Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation LHGDN STAT3 polymorphism predicts interferon-alfa response in patients with metastatic renal cell carcinoma. 17602083

2007