SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: Alagille Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		0.010 GeneticVariation disease BEFREE Inherited syndromes of intrahepatic cholestasis commonly result from mutations in the genes SERPINA1 (alpha(1)-antitrypsin deficiency), JAG1 (Alagille syndrome), ATP8B1 (progressive familial intrahepatic cholestasis type 1 [PFIC1]), ABCB11 (PFIC2), and ABCB4 (PFIC3). 17241866 2007