Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Conventional (Clear Cell) 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
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE In addition, mammalian target of rapamycin (mTOR), an intracellular serine/threonine kinase, is also implicated in HIF-1a regulation, thus reinforcing the rationale for using mTOR inhibitors (rapamycin) in CCRCC. 20437403 2011
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE A prospective, longitudinal cohort study was conducted with 50 patients diagnosed with clear-cell renal cell carcinoma to analyze VHL mutations and hypermethylation as well as VHL, HIF1-α, vascular endothelial growth factor (VEGF), ERK1/2, and ERK5 protein expression. 28624320 2017
Conventional (Clear Cell) 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
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE We investigated the genetic changes in the VHL gene and HIF-1alpha and studied their clinical implications in patients with sporadic CC-RCC. 15809750 2005
Conventional (Clear Cell) 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
Conventional (Clear Cell) 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
Conventional (Clear Cell) 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
Conventional (Clear Cell) 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
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE These findings show that polymorphisms of the HIF1A gene may confer susceptibility to RCC. 15350301 2004
Conventional (Clear Cell) 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
Conventional (Clear Cell) 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
Conventional (Clear Cell) 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
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE The polymorphisms in the VHL and HIF1A genes are associated with the prognosis but not the development of renal cell carcinoma. 21778301 2012
Conventional (Clear Cell) 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
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE This study analyzes the impact of genetic alterations and protein expression of VHL and the C1772T SNP of HIF-1α gene (HIF-1α) on prognosis in early-stage ccRCC (pT1a, pT1b, and pT2). 24446253 2014
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE The relationship of erythropoietin overexpression with von Hippel-Lindau tumour suppressor gene mutations between hypoxia-inducible factor-1α and -2α in sporadic clear cell renal carcinoma. 21042786 2010
Conventional (Clear Cell) 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
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE HIF1α degradation favors ccRCC proliferation, in line with the previously recognized tumor suppressor capability of HIF1α. 25915846 2016
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE HIF-1 and total HIF pathway activation scores were decreased with higher ascorbate in pRCC tumors (Spearman <i>r</i> = -0.38, <i>p</i> < 0.05 and <i>r</i> = -0.35, <i>p</i> < 0.05).This was not evident for ccRCC tumors. 30555801 2018
Conventional (Clear Cell) 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
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE The Von Hippel‑Lindau tumor suppressor (VHL)‑hypoxia‑inducible factor 1 subunit α (HIF1A)/hypoxia‑inducible factor 2α (HIF2A)‑vascular endothelial growth factor A (VEGFA) protein axis is involved in the development and progression of ccRCC, whereas sunitinib, a tyrosine kinase inhibitor, blocks the binding of VEGFA to its receptor. 31268155 2019
Conventional (Clear Cell) 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
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE The effects of miR-138 or si-HIF-1a on ccRCC 786-O cells were also estimated by apoptosis analysis and cell migration assay. 21875287 2011
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE The objective of this study was to evaluate the significance of 3p loss (loss VHL gene) and 14q loss (loss HIF-1α gene) in clear cell renal cell carcinoma (ccRCC). 23335244 2013