SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: Familial encephalopathy with neuroserpin inclusion bodies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858680
Disease: Familial encephalopathy with neuroserpin inclusion bodies
Familial encephalopathy with neuroserpin inclusion bodies 		0.010 GeneticVariation disease BEFREE This results in a group of diseases termed the serpinopathies, which are typified by mutations of α(1)-antitrypsin and neuroserpin in association with cirrhosis and the dementia familial encephalopathy with neuroserpin inclusion bodies, respectively. 21624056 2011