SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: alpha-1-Antitrypsin Deficiency, Autosomal Recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3501835
Disease: alpha-1-Antitrypsin Deficiency, Autosomal Recessive
alpha-1-Antitrypsin Deficiency, Autosomal Recessive 		0.010 Biomarker disease BEFREE Alpha-1 antitrypsin (AAT) deficiency, also known as genetic emphysema, is a conformational disorder in which the roles of ER stress, SEPS1 and selenium have been investigated. 23478569 2013