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: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
0.020 GeneticVariation disease BEFREE Age was found to be significantly associated with the EPAS1 SNP in the CMS patients while heart rate (HR) and oxygen saturation level of hemoglobin (SaO(2)) were found to be significantly associated with the EGLN1 (rs480902) SNP in the Han patients with AMS. 22595196 2012
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
0.020 GeneticVariation disease BEFREE The rs4953348 polymorphism of EPAS1 gene had a significant correlation with the SaO2 level and AMS, and a significant difference in the AG and GG genotype distribution between the AMS and non-AMS groups. 27982053 2016
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.010 Biomarker disease BEFREE Ptpmt1 induced by HIF-2α regulates the proliferation and glucose metabolism in erythroleukemia cells. 26898802 2016
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
0.200 Therapeutic disease RGD Preconditional activation of hypoxia-inducible factors ameliorates ischemic acute renal failure. 16762988 2006
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.010 Biomarker disease BEFREE Hif-1α and Hif-2α synergize to suppress AML development but are dispensable for disease maintenance. 26642852 2015
CUI: C0238284
Disease: Acute mountain sickness
Acute mountain sickness
0.010 Biomarker disease BEFREE Three SNPs within EPAS1 and EGLN1 were evaluated in Han and Tibetan patients with acute mountain sickness (AMS) and chronic mountain sickness (CMS). 22595196 2012
CUI: C0154298
Disease: Acute posthaemorrhagic anaemia
Acute posthaemorrhagic anaemia
0.010 Biomarker disease BEFREE Compared to blood loss, anemia in young CKD rats is associated with inappropriate responses in the HIF-EPO-EPO-R axis: kidney HIF2α and renal EPO are not increased, BM and bone EPOR levels, as well as bone pSTAT5 response to EPO are reduced. 29738538 2018
CUI: C0748355
Disease: Acute respiratory distress
Acute respiratory distress
0.010 Biomarker disease BEFREE Hypoxia-inducible-factor-2α (HIF-2α) and HIF-2 degrading prolyl-hydroxylases (PHD) are key regulators of adaptive hypoxic responses i.e., in acute respiratory distress syndrome (ARDS). 28613249 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.060 Biomarker group BEFREE The PAI-1 gene as a direct target of endothelial PAS domain protein-1 in adenocarcinoma A549 cells. 15039136 2004
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.060 Biomarker group BEFREE Poorer outcome in stromal HIF-2 alpha- and CA9-positive colorectal adenocarcinomas is associated with wild-type TP53 but not with BNIP3 promoter hypermethylation or apoptosis. 18728663 2008
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.060 AlteredExpression group LHGDN Association of hypoxia-inducible factors 1alpha and 2alpha with activated angiogenic pathways and prognosis in patients with endometrial carcinoma. 12209691 2002
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.060 AlteredExpression group LHGDN Increasing expression of hypoxia-inducible proteins in the Barrett's metaplasia-dysplasia-adenocarcinoma sequence. 17437013 2007
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.060 AlteredExpression group BEFREE The high HIF-2α expression was associated with histology (squamous cell carcinoma vs. adenocarcinomas) in these patients ( p = 0.001). 28653893 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.060 AlteredExpression group LHGDN Stromal expression of hypoxia regulated proteins is an adverse prognostic factor in colorectal carcinomas. 17452775 2007
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.070 AlteredExpression disease BEFREE We showed that EPAS1, but not HIF-1alpha, is abundantly expressed in human lung adenocarcinoma A549 cells. 11751212 2002
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.070 AlteredExpression disease BEFREE Downregulation of HIF-2α Reverse the Chemotherapy Resistance of Lung Adenocarcinoma A549 Cells to Cisplatin. 29469087 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.070 Biomarker disease BEFREE Multi-Omics Analysis Reveals a HIF Network and Hub Gene EPAS1 Associated with Lung Adenocarcinoma. 29859855 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.070 AlteredExpression disease BEFREE In vivo PDK4 expression was elevated in a Cisplatin-resistant population of lung adenocarcinoma cells, PDK4-dependent Cisplatin-resistance promotes tumor growth of lung adenocarcinoma in vivo and in vitro, clinically PDK4 expression was associated with poor prognosis in lung adenocarcinoma patients, mechanically PDK4 promoted cell growth and Cisplatin-resistance of lung adenocarcinoma via transcriptional regulation of endothelial PAS domain-containing protein 1 (EPAS1). 30501603 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.070 AlteredExpression disease BEFREE Moreover, HIF-2α expression was linked to a good survival benefit in some cancers (B-cell lymphoma and lung adenocarcinoma: OS, multiple myeloma: DSS, breast cancer: distant metastasis-free survival, liposarcoma: distant recurrence-free survival) (all HRs < 1, Ps < 0.05). 30021192 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.070 GeneticVariation disease BEFREE The EPAS1 rs4953354 may be a potentially susceptible marker for development of lung adenocarcinoma, especially in female never-smokers. 25436804 2014
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.070 Biomarker disease BEFREE Mega-analysis revealed that three LA-associated genes, such as solute carrier family 2 member 1 (SLC2A1), endothelial PAS domain protein 1 (EPAS1) and cyclin-dependent kinase 4 (CDK4), were significantly associated with LSCC (P<1.60×10<sup>-8</sup>), with multiple potential pathways identified by functional pathway analysis, which were further validated by co-expression analysis. 31516564 2019
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
0.100 Biomarker disease BEFREE New HIF2α inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas. 28667082 2017
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
0.100 GeneticVariation disease BEFREE Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations. 16954163 2006
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
0.100 GeneticVariation disease BEFREE The HIF2α mutation-induced polycythemia with PCC/PGL is a rare syndrome with no treatment for cure. 28116635 2017
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
0.100 GeneticVariation disease BEFREE This case represents the first association of a somatic HIF2A gain-of-function mutation with PHEO and congenital polycythemia, and it alerts physicians to perform proper genetic screening in patients presenting with multiple norepinephrine-producing PHEOs and polycythemia. 23539726 2013