APOA1, apolipoprotein A1, 335

N. diseases: 416; N. variants: 32
Disease: Apolipoprotein A-I deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342898
Disease: Apolipoprotein A-I deficiency
Apolipoprotein A-I deficiency 		0.300 GermlineCausalMutation phenotype ORPHANET Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. 8282791 1994
CUI: C0342898
Disease: Apolipoprotein A-I deficiency
Apolipoprotein A-I deficiency 		0.300 GermlineCausalMutation phenotype ORPHANET Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene. 8240372 1993