Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE These findings show that polymorphisms of the HIF1A gene may confer susceptibility to RCC. 15350301 2004
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE Previous reports have identified the existence of single nucleotide polymorphisms (SNPs) in the oxygen-dependent degradation domain of the HIF-1alpha gene in renal cell carcinoma, head and neck squamous cell carcinoma, and androgen-independent prostate cancer (AIPC). 16205110 2005
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease LHGDN Somatic VHL alteration and its impact on prognosis in patients with clear cell renal cell carcinoma. 15809750 2005
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease 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
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE Abnormal accumulation of c-Myc is able to induce excessive proliferation of normal cells. von Hippel-Lindau protein(pVHL) is a key regulator of hypoxia-inducible factor 1α(HIF1α), thus accumulation and hyperactivation of HIF1α is the most prominent feature of VHL-mutated renal cell carcinoma. 22286234 2012
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE In renal carcinoma, a natural antisense of HIF-1alpha transcript (aHIF) that is complementary to the 3'untranslated region of HIF-1alpha mRNA has been described. 12459261 2002
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE The VHL and HIF1A polymorphisms may not influence RCC susceptibility but may jointly influence RCC progression and survival. 21778301 2012
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE It has also been reported that a single nucleotide polymorphism (SNP) in exon 12 of HIF-1alpha gene is present in renal cell carcinoma and head and neck squamous cell carcinoma patients. 15492789 2004
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE HIF-1α C1772T TT genotype and HIF-1α G1790A AA genotype were associated with RCC susceptibility. 30539853 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE Our meta-analysis suggests that the substitution of C allele with T at HIF-1α gene C1772T polymorphism is a risk factor of cancer, especially for cervical, head and neck cancer, pancreatic cancer and renal cell carcinoma. 24367595 2013
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease 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
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE AA genotype of HIF1α 1790G/A was positively associated with RCC risk in overall populations and Caucasians. 31419966 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE Molecular modeling of the VHL-ElonginC-HIF-1alpha complex predicted that the p.Asn78Tyr amino acid exchange remarkably alters the 77-83 loop structure of VHL protein and destabilizes the VHL-HIF-1alpha complex suggesting that the mutation causes type I phenotype and has high risk to associate to renal cell carcinoma. 23298237 2013
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of the HIF-1alpha gene have been identified in renal cell carcinoma, head and neck and esophageal squamous cell carcinomas as well as colorectal and prostate cancers. 18949419 2008
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE Renal cell carcinoma risk in type 2 von Hippel-Lindau disease correlates with defects in pVHL stability and HIF-1alpha interactions. 16261165 2006
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE The detection of a loss-of-function HIF1A mutation in a primary RCC is consistent with HIF-1 and HIF-2 having different roles in renal tumourigenesis, However, somatic mutations of HIF1A are not frequently implicated in the pathogenesis of RCC. 20032376 2009
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE This study evaluated the associations of the HIF1A+1772C/T (rs11549465) polymorphism with clinicopathologic prognostic factors, recurrence/progression, and survival in a cohort of 179 patients with RCC treated at Portuguese Oncology Institute of Porto. 28476527 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease LHGDN Polymorphisms in the hypoxia inducible factor-1alpha gene (HIF1A) are associated with the renal cell carcinoma phenotype. 15350301 2004
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE The purpose of this study was to determine the effect of variation within microRNA (miRNA)-binding sites of genes in the VHL-HIF1α pathway on RCC risk. 22517515 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 Biomarker disease BEFREE Thus, this study demonstrates that downregulation of HIF-1alpha could suppress tumorigenicity of RCC through induction of apoptosis, and HIF-1alpha shRNA may be a promising strategy for the treatment of RCC. 19816521 2010
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 Biomarker disease BEFREE FTY720 (Fingolimod) Inhibits HIF1 and HIF2 Signaling, Promotes Vascular Remodeling, and Chemosensitizes in Renal Cell Carcinoma Animal Model. 27507852 2016
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 Biomarker disease BEFREE We found that HAVCR/KIM-1 activates the IL-6/STAT-3/HIF-1A axis in ccRCC-derived cell lines, which depends on HAVCR/KIM-1 shedding. 24390735 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 Biomarker disease BEFREE We found that the anti-angiogenic TKI sunitinib disrupted the balance between HIF-1α and HIF-2α in RCCs and led to a protective effect on HUVECs against sunitinib treatment when cultured with conditioned medium. 28572533 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 Biomarker disease BEFREE Cell culture metabolomics analysis was utilized to determined effect of VHL and HIF-1α or HIF-2α on metabolism of renal cell carcinomas (RCC). 26620126 2016
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.100 Biomarker disease BEFREE Whereas the development of hemangioblastomas and renal cell carcinomas has been attributed to impaired HIF-1/2alpha down-regulation by pVHL mutant proteins, the molecular defects underlying the development of pheochromocytomas are still unknown. 19228690 2009