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 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
0.700 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 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 BEFREE The authors observed evidence of interactions between PhIP and RCC susceptibility variants in 2 genes: inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2) (rs718314; multiplicative P for interaction = .03 and additive P for interaction =.002) and endothelial PAS domain-containing protein 1 (EPAS1) (rs7579899; additive P for interaction =.06). 26551148 2016
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 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 Together, these results may provide us a new therapeutic approach via targeting this newly identified signal from LncRNA-SARCC to AR-mediated HIF-2α/C-MYC signals against RCC progression. 26973243 2016
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 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 GWASCAT Sex specific associations in genome wide association analysis of renal cell carcinoma. 31231134 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation disease GWASCAT Genome-wide association study identifies multiple risk loci for renal cell carcinoma. 28598434 2017
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
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 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 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 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 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