SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.320 GeneticVariation disease BEFREE DNA samples were obtained from 51 subjects with cholestasis of undefined etiology and surveyed for mutations in the genes SERPINA1, JAG1, ATP8B1, ABCB11, and ABCB4 by a high-throughput gene chip. 20683201 2010
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.320 GeneticVariation disease BEFREE We believe that genetic alterations of alpha-1 antitrypsin and P-glycoprotein, either alone or in association with known pathogenetic mechanisms, may explain the onset of danazol induced cholestasis and justify the difference in its varying duration and intensity. 9360432 1997
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.320 Biomarker disease CTD_human Neonatal cholestasis in alpha-1-antitrypsin deficient children. Clinical, genetic, histological and immunohistochemical findings. 4117022 1972