SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: Movement Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease. 26310624 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. 23632999 2013
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Clinical course and prognosis of never-smokers with severe alpha-1-antitrypsin deficiency (PiZZ). 18682522 2008
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Alpha 1-antitrypsin deficiency. 3: Clinical manifestations and natural history. 15115878 2004
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group. 9041988 1997
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene. 6306478 1983