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: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.010 GeneticVariation disease BEFREE To investigate the relationship between 3 hypoxic markers, carbonic anhydrase-9 (CA-9), hypoxia-inducible factor (HIF)-1α, and HIF-2α and the traditional genetic markers, deletions of chromosomes 1p and 19q and Isocitrate dehydrogenase 1 (IDH1) R132H mutation in oligodendrogliomas. 26960282 2016
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.080 GeneticVariation disease BEFREE Clear cell renal cell carcinoma (ccRCC) is the most common subtype of RCC and bears a significantly high frequency of hypoxia-inducible factor 2α (HIF-2α) because of von Hippel-Lindau (VHL) tumor suppressor gene mutations. 31541711 2019
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.080 AlteredExpression disease BEFREE Inactivation of the von-Hippel Lindau (VHL) tumor suppressor gene occurs in 90% of human clear cell renal cell carcinomas (ccRCC) and leads to the stable expression of the hypoxia-inducible factors HIF1α and HIF2α. 24189146 2014
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.080 Biomarker disease BEFREE This study demonstrates that small-molecule targeting of HIF2α improves VHL-related phenotypes in a vertebrate animal model and supports further exploration of this strategy for treating VHL disease. 25866969 2015
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.080 GeneticVariation disease BEFREE This study explores the phenotype of two other HIF pathway diseases: classic VHL disease and HIF-2α gain-of-function mutation. 21389259 2011
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.080 AlteredExpression disease BEFREE In contrast, distinct early lesions of biallelic VHL inactivation in kidneys of the hereditary VHL syndrome show strong HIF-2α expression. 22299048 2012
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.080 Biomarker disease BEFREE Hypoxia-inducible factor-2α stabilizes the von Hippel-Lindau (VHL) disease suppressor, Myb-related protein 2. 28394947 2017
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.080 Biomarker disease BEFREE Kidney cancers often delete chromosome 3p, spanning the VHL tumor suppressor gene, and chromosome 14q, which presumably harbors ≥ 1 tumor suppressor genes. pVHL inhibits the hypoxia-inducible transcription factor (HIF), and HIF2α is a kidney cancer oncoprotein. 22037472 2011
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.080 Biomarker disease BEFREE Low oxygen tension or von Hippel-Lindau (Vhl) tumor suppressor loss is known to stabilize hypoxia-inducible factors alpha (Hif-1α and Hif-2α) to mediate adaptive responses, but it remains unknown if peroxisome homeostasis and metabolism are interconnected with Hif-α signaling. 25440060 2014
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		0.010 Biomarker disease BEFREE These data indicate that increased HIF-2α in LVECs plays a pathogenic role in the development of severe PH by upregulating SNAI1/2, inducing EndMT, and causing obliterative pulmonary vascular lesions and vascular remodeling. 29074488 2018
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.010 AlteredExpression phenotype BEFREE HIF-1α and HIF-2α are up-regulated in vascular malformations in intestinal tissues from GIVM patients, but not in adjacent normal vessels. 27249651 2016
CUI: C0042345
Disease: Varicosity
Varicosity 		0.010 AlteredExpression disease BEFREE The relative expression of HIF-1α, HIF-2α, HIF target genes, and HIF regulatory enzymes in VVs and NVVs was analyzed with quantitative polymerase chain reaction (Q-PCR) and Western blot. 22277691 2012
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.010 Biomarker disease LHGDN Prognostic significance of HIF-2alpha expression on tumor infiltrating macrophages in patients with uterine cervical cancer undergoing radiotherapy. 18319549 2008
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 Biomarker phenotype BEFREE Taken together, our results indicate that increased expression of MTFR2 is associated with tumour progression in breast cancer cells through switching glucose metabolism from OXPHS to glycolysis in a HIF1α- and HIF2α-dependent manner. 31740625 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 Biomarker phenotype BEFREE Hypoxia-inducible factor-2α (HIF-2α) plays an important role in tumor progression and metastasis. 29942795 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 AlteredExpression phenotype BEFREE Expression of HIF-2α-inducible genes is associated with tumor progression. 25730079 2015
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 Biomarker phenotype BEFREE Hypoxia-inducible factor-2α (HIF-2α) plays an important role in increasing cancer progression and distant metastasis in a variety of tumour types. 28544376 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 Biomarker phenotype BEFREE These findings also suggest an important role of HIF-2α in the regulation of tumor progression under chronic hypoxia. 21571835 2011
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 Biomarker phenotype BEFREE This provides additional insights into the role of HIF-2α in coordinated regulation of stem-like functions and epigenetics that are important for cancer progression and may present additional targets for the development of novel combinatorial therapeutics. 29721188 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 Biomarker phenotype BEFREE It is well established that hypoxia contributes to tumor progression in a hypoxia inducible factor-2α (HIF-2α)-dependent manner in renal cell carcinoma (RCC), yet the role of long noncoding RNAs (LncRNAs) involved in hypoxia-mediated RCC progression remains unclear. 26973243 2016
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 Biomarker phenotype BEFREE Lactate inhibits ATP6V0d2 expression in tumor-associated macrophages to promote HIF-2α-mediated tumor progression. 30431439 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 Biomarker phenotype BEFREE Future study is warranted to determine if iron deprivation using chelator drugs provides an effective therapeutic strategy for targeting HIF-2α and suppressing tumor progression in ccRCC patients. 30553971 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 Biomarker phenotype BEFREE While HIF1α can act as a ccRCC tumor suppressor, HIF2α has emerged as the key HIF isoform that is essential for ccRCC tumor progression. 29938199 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 Biomarker phenotype BEFREE Hypoxia-inducible factor 2α (HIF2α) plays critical roles in cancer progression. 27465550 2016
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 Biomarker phenotype BEFREE Increased expression of the regulatory subunit of HIFs (HIF-1α or HIF-2α) is associated with metabolic adaptation, angiogenesis, and tumor progression. 22214851 2012