SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: Dermatologic disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.010 AlteredExpression group BEFREE Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum. 18565211 2008