SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: Abnormality of the liver ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.100 CausalMutation phenotype CLINVAR The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene. 2787118 1989
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.100 CausalMutation phenotype CLINVAR DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z. 2989709 1985