EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Disease: Respiratory Distress Syndrome, Adult ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		0.020 GeneticVariation disease BEFREE The homozygous <i>HIF-2α</i> GG-genotype was not present in our Caucasian ARDS cohort; however <i>PHD2</i> SNPs exist in Caucasians, and <i>PHD2</i> rs516651 TT-genotype was associated with an increased 30-day mortality suggesting a relevance for adaptive responses in ARDS. 28613249 2017
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		0.020 AlteredExpression disease BEFREE Moreover, activation of HIF2α/VE-PTP signaling via PHD2 inhibition has the potential to prevent the formation of leaky vessels and edema in inflammatory diseases such as ARDS. 25574837 2015