APOA1, apolipoprotein A1, 335

N. diseases: 416; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 GeneticVariation disease UNIPROT Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26. 8208902 1994
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 GeneticVariation disease UNIPROT Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. 3142462 1988
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 Biomarker disease GENOMICS_ENGLAND A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype. 27240838 2016
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 CausalMutation disease CLINVAR
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 GeneticVariation disease UNIPROT Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. 1502149 1992
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 GeneticVariation disease UNIPROT A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. 2123470 1990
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 Biomarker disease CTD_human
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 Biomarker disease GENOMICS_ENGLAND A novel APOA1 mutation in a patient with renal amyloidosis: unveiling amyloid by next-generation sequencing. 31482740 2019
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		0.700 Biomarker disease GENOMICS_ENGLAND Organ transplantation in hereditary apolipoprotein AI amyloidosis. 16925563 2006
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.560 GermlineCausalMutation disease ORPHANET Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. 8282791 1994
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.560 GeneticVariation disease BEFREE Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia. 3081805 1986
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.560 AlteredExpression disease BEFREE Dalcetrapib increased high-density lipoprotein cholesterol (HDL-C) and ApoA1 levels to a similar extent in FHA (+22.8, +13.9%) and FCH (+18.4, +12.1%), both p < 0.001 vs. placebo. 25281277 2014
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.560 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.560 GeneticVariation disease BEFREE Apolipoprotein A-I metabolism in subjects with a PstI restriction fragment length polymorphism of the apoA-I gene and familial hypoalphalipoproteinemia. 1981893 1990
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.560 GeneticVariation disease BEFREE These observations show that mutations in ABCA1, APOA1, and LCAT are sufficient to explain >40% of familial hypoalphalipoproteinemia in this cohort. 21875686 2012
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.560 GeneticVariation disease BEFREE A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla). 26687706 2016
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.560 GermlineCausalMutation disease ORPHANET The data suggest that a part of familial hypoalphalipoproteinemia might be an autosomal dominant trait due to a completely defective apolipoprotein A-I gene. 8240372 1993
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.560 GeneticVariation disease BEFREE To determine the frequency of familial hypoalphalipoproteinemia in the general population due to mutation of the apolipoprotein A-I (apo A-I) gene, we analyzed sequence variations in the apo A-I gene. 9931341 1999
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.400 AlteredExpression disease BEFREE The proinflammatory enzyme myeloperoxidase induces both oxidative modification and nitrosylation of specific residues on plasma and arterial apolipoprotein A-I to render HDL dysfunctional, which results in impaired ABCA1 macrophage transport, the activation of inflammatory pathways, and an increased risk of coronary artery disease. 26323267 2016
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.400 GeneticVariation disease BEFREE DNA polymorphisms of apolipoprotein A-I/C-III and insulin genes in familial hypertriglyceridemia and coronary heart disease. 3115275 1987
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.400 AlteredExpression disease BEFREE Elevated plasma levels of apolipoproteins A1 (apoA1) and B (apoB) are important protective factors and risk factors, respectively, for atherosclerosis and coronary heart disease. 11122500 2000
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.400 Biomarker disease BEFREE High density lipoprotein, apolipoprotein A-I, and coronary artery disease. 10942211 2000
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.400 GeneticVariation disease BEFREE The results show for the first time an impaired postprandial lipoprotein removal in a case heterozygote with moderately low HDL cholesterol due to an apolipoprotein A-1 mutation not associated with coronary artery disease. 9125314 1996