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 GeneticVariation disease BEFREE HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma. 29172931 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE Knockdowns of TRAIL averted apoptotic cell death caused by HIF2-alpha inhibition in starvation-resistant RCCs. 29796174 2018
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 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 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 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 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 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 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 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 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 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 GeneticVariation disease GWASCAT Common variation at 1q24.1 (ALDH9A1) is a potential risk factor for renal cancer. 25826619 2015