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: C0240066
Disease: Iron deficiency
Iron deficiency
0.050 Biomarker disease BEFREE Additionally, intestinal HIF-2α is essential for the local absorptive response to systemic iron deficiency and iron overload. 30352047 2019
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
0.050 Biomarker disease BEFREE Moreover, many intestinal genes related to iron absorption are transactivated by a hypoxia-inducible transcription factor, hypoxia-inducible factor-2α (HIF2α), during iron deficiency. 30215866 2018
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
0.050 Biomarker disease BEFREE In conclusion, the data demonstrate that iron deficiency augments megakaryocytic differentiation and proplatelet formation and a potential role of HIF2α in megakaryopoiesis. 25715026 2015
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
0.050 AlteredExpression disease BEFREE This pattern is consistent with potentiation of HIF-1α protein stability by iron deficiency but a trend for down-regulation of HIF-2α translation by iron deficiency overriding an increase in HIF-2α protein stability. 23993337 2014
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
0.050 Biomarker disease BEFREE Hypoxia-inducible factor-2α mediates the adaptive increase of intestinal ferroportin during iron deficiency in mice. 21419768 2011