EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Disease: Iron Overload ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.040 Biomarker disease BEFREE These findings demonstrate a molecular link between hepatic hepcidin and intestinal HIF-2α that controls physiological iron uptake and drives iron hyperabsorption during iron overload. 30352047 2019
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.040 Biomarker disease BEFREE This work indicates that the crosstalk between liver hepcidin and intestinal HIF-2α plays an important role during iron overload, systemic iron deficiency, and anemia. 30530987 2019
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.040 Biomarker disease BEFREE The molecular link between iron, ROS and SerpinB3 seems to be HIF-2α, which is induced by iron overload and was previously found capable of up-regulating SerpinB3 at the transcriptional level. 28935635 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.040 Biomarker disease BEFREE Intestinal disruption of HIF-2α protects against tissue iron accumulation in iron overload anemias. 26296885 2015