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: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 AlteredExpression disease BEFREE The transcript levels for six HDL-metabolizing genes (LDLR, LCAT, ABCA1, SCARB1, ZDHHC8, and BMP1) were decreased, while the transcript level of APOA1 gene was increased in mononuclear cells of subjects with hyperalphalipoproteinemia as compared with subjects with hypoalphalipoproteinemia. 30430582 2018
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 GeneticVariation disease BEFREE Several ApoA-I amyloidogenic mutations are also associated with hypoalphalipoproteinemia, low ApoA-I and high-density lipoprotein (HDL)-cholesterol plasma levels; however, subjects affected by ApoA-I-related amyloidosis do not show a higher risk of cardiovascular diseases (CVD). 28887204 2017
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 Biomarker disease BEFREE Inhibition of apolipoprotein A-I gene by the aryl hydrocarbon receptor: a potential mechanism for smoking-associated hypoalphalipoproteinemia. 22727790 2012
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 GeneticVariation disease LHGDN A new APOA1 mutation with severe HDL-cholesterol deficiency and premature coronary artery disease. 17991432 2008
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 Biomarker disease BEFREE These results demonstrate that Apoa1/c3/a4(-/-) mice display clinical features similar to human apoA-I/C-III/A-IV deficiency (i.e., marked hypoalphalipoproteinemia) and provide further support for the apoa1/c3/a4 gene cluster as a minor susceptibility locus for atherosclerosis in mice. 16497661 2006
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 GeneticVariation disease BEFREE Intima media thickness studies have provided evidence that hypoalphalipoproteinemia due to mutations in apoA-I, ABCA1, and LCAT is associated with increased progression of atherosclerosis. 15767853 2005
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 Biomarker disease BEFREE Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia. 12048121 2002
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 GeneticVariation disease BEFREE Thus, this is the first demonstration of an apoA-I point mutation that decreases LCAT activation, impairs hepatocyte secretion of apoA-I, and makes apoA-I susceptible to proteolysis leading to dominantly inherited hypoalphalipoproteinemia. 11292828 2001
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 GeneticVariation disease BEFREE Thus, the frequency of hypoalphalipoproteinemia due to a mutant apolipoprotein A-I gene was estimated at 6% (95% CI: 2.4-14. 9931341 1999
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 GeneticVariation disease BEFREE Multiple dysfunctions of two apolipoprotein A-I variants, apoA-I(R160L)Oslo and apoA-I(P165R), that are associated with hypoalphalipoproteinemia in heterozygous carriers. 10064737 1999
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 GeneticVariation disease BEFREE Hypoalphalipoproteinemia can result from defects in the genes encoding apolipoprotein A-I, the major protein component of HDL, or enzymes that are critical for the formation/maturation of mature HDL. 9253538 1997
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 GeneticVariation disease BEFREE Apolipoprotein A-IFin. Dominantly inherited hypoalphalipoproteinemia due to a single base substitution in the apolipoprotein A-I gene. 9012641 1997
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 Biomarker disease BEFREE Apo AI and apo All production rates in the patient with FED were normal, 11.32 and 2.62 mg/kg x d, respectively, as compared with those in normal subjects, 11.45 +/- 1.23 and 2.68 +/- 0.17 mg/kg x d. These data established that hypoalphalipoproteinemia in FED was caused by marked hypercatabolism of apo AI and apo All. 9160810 1997
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 GeneticVariation disease BEFREE Hypoalphalipoproteinaemia and polymorphisms associated with reduced expression of the apolipoprotein A-I gene and resolution of disputed paternity in a large English family. 8096444 1993
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 GeneticVariation disease BEFREE To reveal the presence of autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene, the apolipoprotein A-I gene was analyzed in a Japanese family with low levels of HDL cholesterol and apolipoprotein A-I. 8240372 1993
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
0.100 GeneticVariation disease BEFREE Two restriction-fragment-length polymorphisms in the apolipoprotein A-I-C-III gene complex were defined by digestion with PstI and SacI in a family with hypoalphalipoproteinemia. 2877676 1986