EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Disease: Glioma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017638
Disease: Glioma
Glioma 		0.040 AlteredExpression disease LHGDN Genetic evidence for a tumor suppressor role of HIF-2alpha. 16098466 2005
CUI: C0017638
Disease: Glioma
Glioma 		0.040 AlteredExpression disease LHGDN Sphingosine kinase 1 is up-regulated during hypoxia in U87MG glioma cells. Role of hypoxia-inducible factors 1 and 2. 18055454 2008
CUI: C0017638
Disease: Glioma
Glioma 		0.040 Biomarker disease BEFREE We show that the intracellular domain of stem cell marker CD44 (CD44ICD) is released at hypoxia, binds HIF-2α (but not HIF-1α), enhances HIF target gene activation, and is required for hypoxia-induced stemness in glioma. 28813675 2017
CUI: C0017638
Disease: Glioma
Glioma 		0.040 Biomarker disease BEFREE A first-in-class HIF2α inhibitor, PT2385, is in clinical trials for renal cell carcinoma, and provides the first opportunity to therapeutically target this important pathway in glioma biology. 30089425 2018