SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: Hepatic siderosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0948120
Disease: Hepatic siderosis
Hepatic siderosis 		0.010 GeneticVariation disease BEFREE Individuals homozygous for the A1AT Z-allele with environmental or genetic risk factors such as steatosis or heterozygosity for the HAMP non-sense mutation p.Arg59* presented with severe hepatic siderosis. 26310624 2015