EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE EPAS1 was detected in all of the RCC cell lines examined. 11301389 2001
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease RGD Up-regulation of hypoxia-inducible factor 2alpha in renal cell carcinoma associated with loss of Tsc-2 tumor suppressor gene. 12750296 2003
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 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
0.700 AlteredExpression disease BEFREE Nox4 is critical for hypoxia-inducible factor 2-alpha transcriptional activity in von Hippel-Lindau-deficient renal cell carcinoma. 16230378 2005
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE Identification of membrane type-1 matrix metalloproteinase as a target of hypoxia-inducible factor-2 alpha in von Hippel-Lindau renal cell carcinoma. 15592504 2005
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 AlteredExpression disease LHGDN Renal cancer cells lacking hypoxia inducible factor (HIF)-1alpha expression maintain vascular endothelial growth factor expression through HIF-2alpha. 16920734 2007
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE Mutation analysis of hypoxia-inducible factors HIF1A and HIF2A in renal cell carcinoma. 20032376 2009
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation disease GWASCAT Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. 21131975 2011
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation disease BEFREE Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. 21131975 2011
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease CTD_human Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. 21131975 2011
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 AlteredExpression disease BEFREE Reduced expression of fumarate hydratase in clear cell renal cancer mediates HIF-2α accumulation and promotes migration and invasion. 21695080 2011
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation disease GWASDB Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. 21131975 2011
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation disease GWASDB A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. 22010048 2012
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation disease BEFREE In follow-up of a recent genome-wide association study (GWAS) that identified a locus in chromosome 2p21 associated with risk for renal cell carcinoma (RCC), we conducted a fine mapping analysis of a 120 kb region that includes EPAS1. 22113997 2012
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE HIF-2α is stabilized in von Hippel-Lindau (VHL)-deficient renal cell carcinoma through mechanisms that require ongoing mRNA translation. 22869144 2013
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 AlteredExpression disease BEFREE Proteomic analysis of signaling network regulation in renal cell carcinomas with differential hypoxia-inducible factor-2α expression. 23940778 2013
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE To investigate the oncolytic efficacy of a highly virulent (velogenic) Newcastle disease virus (NDV) in the presence or absence of HIF-2α, renal cell carcinoma (RCC) cell lines with defective or reconstituted wild-type (wt) von Hippel-Lindau (VHL) activity were used. 23506478 2013
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE Our data provide insight into the link between HIF2α, the ITPR1-related pathway, and natural immunity and strongly suggest a role for the HIF2α/ITPR1 axis in regulating RCC cell survival. 25297632 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 AlteredExpression disease BEFREE Furthermore, we demonstrate that peroxisome abundance is reduced in VHL-deficient human clear cell renal cell carcinomas with high HIF-2α levels. 25440060 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 AlteredExpression disease BEFREE Restricted expression of miR-30c-2-3p and miR-30a-3p in clear cell renal cell carcinomas enhances HIF2α activity. 24189146 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 AlteredExpression disease BEFREE We find that DDT expression mirrors MIF expression in ccRCC tumor sections with high correlation and that, mechanistically, DDT is a novel hypoxia-inducible gene and direct target of HIF1α and HIF2α. 24356968 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 AlteredExpression disease BEFREE In determining the critical functions for HIF2α expression in RCC cells, the NADPH oxidase NOX4 has been identified, but the pathogenic contributions of NOX4 to RCC have not been evaluated directly. 24755467 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE Herein, we provide mechanistic evidence that HIF-2α can be degraded in cytoplasm under hypoxic conditions via the 26S proteasome and that MDM2 is the E3 ligase which induces the hypoxic degradation of HIF-2α in PI-3K-dependent manner in VHL-deficient RCC cells. 25578041 2015
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE HIF2α is involved in the expansion of CXCR4-positive cancer stem-like cells in renal cell carcinoma. 26439684 2015
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation disease GWASCAT Common variation at 1q24.1 (ALDH9A1) is a potential risk factor for renal cancer. 25826619 2015