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: C4045968
Disease: Altitude Hypoxia
Altitude Hypoxia
0.040 Biomarker disease BEFREE Our results indicate that both current and lifetime exposure to high-altitude hypoxia have an effect on EPAS1 and LINE-1 methylation among Andean Quechua, suggesting that epigenetic modifications may play a role in high-altitude adaptation. 30574831 2019
CUI: C4045968
Disease: Altitude Hypoxia
Altitude Hypoxia
0.040 AlteredExpression disease BEFREE We propose that the down-regulation of EPAS1 contributes to the molecular basis of Tibetans' adaption to high-altitude hypoxia. 28096303 2017
CUI: C4045968
Disease: Altitude Hypoxia
Altitude Hypoxia
0.040 Biomarker disease BEFREE The associations between HIF2A variants and different level of high altitude support that extremely high-altitude hypoxia challenge imposes selective effects on HIF2A variants among native Tibetans. 26368009 2015
CUI: C4045968
Disease: Altitude Hypoxia
Altitude Hypoxia
0.040 Biomarker disease BEFREE EPAS1 involves in the hypoxic response and is suggested to be responsible for the genetic adaptation of high-altitude hypoxia in Tibetans. 25501874 2014