EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Disease: DOCK8 Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4289709
Disease: DOCK8 Deficiency
DOCK8 Deficiency 		0.010 Biomarker disease BEFREE Thus, EPAS1 links DOCK8 deficiency to atopic skin inflammation via IL-31 induction in CD4<sup>+</sup> T cells. 28067314 2017