APOC3, apolipoprotein C3, 345

N. diseases: 153; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.100 GeneticVariation disease BEFREE A DNA polymorphism of the apolipoprotein C-III gene in extracoronary atherosclerosis. 3345637 1988
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.100 GeneticVariation disease BEFREE A DNA polymorphism of the apolipoprotein C-III gene in extracoronary atherosclerosis. 3345637 1988
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.100 Biomarker disease BEFREE The association between the minor RFLP alleles and polymorphic gene variants (probably the apo AI, apo CIII, or both genes) which enhance liability to CHD accounted for almost 20% of total CHD in this population. 2567428 1989
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 AlteredExpression phenotype BEFREE Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice. 2167514 1990
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency 		0.610 GeneticVariation disease UNIPROT Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 2022742 1991
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		0.320 GermlineCausalMutation disease ORPHANET Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 2022742 1991
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		0.320 GeneticVariation disease BEFREE Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 2022742 1991
CUI: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias 		0.300 Biomarker disease CTD_human Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 2022742 1991
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 Biomarker phenotype BEFREE In summary, hypertriglyceridemia in HuCIIITg mice appears to result primarily from decreased tissue uptake of triglyceride-rich particles from the circulation, which is most likely due to increased apo CIII and decreased apo E on VLDL particles. the HuCIIITg mouse appears to be a suitable animal model of primary familial hypertriglyceridemia, and these studies suggest a possible mechanism for this common lipoprotein disorder. 1430212 1992
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.050 AlteredExpression disease BEFREE HNF-4 activates apoCIII gene expression in HepG2 and Caco2 cells, while ARP-1 and Ear3/COUP-TF repress its expression in the same cells. 1312668 1992
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.020 AlteredExpression group BEFREE HNF-4 activates apoCIII gene expression in HepG2 and Caco2 cells, while ARP-1 and Ear3/COUP-TF repress its expression in the same cells. 1312668 1992
CUI: C0020480
Disease: Hyperlipoproteinemia Type IV
Hyperlipoproteinemia Type IV 		0.010 Biomarker disease BEFREE In summary, hypertriglyceridemia in HuCIIITg mice appears to result primarily from decreased tissue uptake of triglyceride-rich particles from the circulation, which is most likely due to increased apo CIII and decreased apo E on VLDL particles. the HuCIIITg mouse appears to be a suitable animal model of primary familial hypertriglyceridemia, and these studies suggest a possible mechanism for this common lipoprotein disorder. 1430212 1992
CUI: C0221715
Disease: Intestinal carcinoma
Intestinal carcinoma 		0.010 AlteredExpression disease BEFREE HNF-4 activates apoCIII gene expression in HepG2 and Caco2 cells, while ARP-1 and Ear3/COUP-TF repress its expression in the same cells. 1312668 1992
CUI: C0596848
Disease: lipoprotein disorder
lipoprotein disorder 		0.010 Biomarker disease BEFREE In summary, hypertriglyceridemia in HuCIIITg mice appears to result primarily from decreased tissue uptake of triglyceride-rich particles from the circulation, which is most likely due to increased apo CIII and decreased apo E on VLDL particles. the HuCIIITg mouse appears to be a suitable animal model of primary familial hypertriglyceridemia, and these studies suggest a possible mechanism for this common lipoprotein disorder. 1430212 1992
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		0.200 Biomarker disease RGD Role of thyroid hormone in the expression of apolipoprotein A-IV and C-III genes in rat liver. 8429259 1993
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 Biomarker disease RGD We therefore measured the transcriptional activity of the apoA-IV and apoC-III genes and the abundance of their nuclear RNA and total cellular mRNA in livers of control rats and rats made hyper- and hypothyroid. 8429259 1993
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial 		0.020 GeneticVariation disease BEFREE In FCH the X2 minor allele of the AI-CIII-AIV gene cluster was associated with increased fasting plasma TG, apo CIII, apo AI, and NEFA concentrations and decreased postheparin lipolytic activities. 8100834 1993
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.100 GeneticVariation disease BEFREE Global severity of atherosclerosis at the first angiography was weakly associated with genotypes of the apoCIII-C/T1100 polymorphism, presence of the T1100 allele being associated with 53% lower median score (1.6 vs 0.75; p = 0.09).(ABSTRACT TRUNCATED AT 400 WORDS) 7834891 1994
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.100 GeneticVariation disease BEFREE Global severity of atherosclerosis at the first angiography was weakly associated with genotypes of the apoCIII-C/T1100 polymorphism, presence of the T1100 allele being associated with 53% lower median score (1.6 vs 0.75; p = 0.09).(ABSTRACT TRUNCATED AT 400 WORDS) 7834891 1994
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		0.070 GeneticVariation disease BEFREE By using chemical cleavage mismatch analysis and the single strand conformation polymorphism technique, DNA fragments of the apo CIII gene, including the 5' flanking region and all the exons, were screened for sequence changes underlying the observed association between familial combined hyperlipidaemia (FCHL) and the apo AI-CIII-AIV gene cluster in affected individuals from eight FCHL families. 7889654 1994
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 Biomarker phenotype BEFREE The variant apo CIII promoter is common in the human population and may represent a major contributing factor to the development of hypertriglyceridemia. 8675624 1995
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 GeneticVariation phenotype BEFREE The polymorphic sites were the SstI site in the apoCIII 3' untranslated region, whose presence has previously been shown to be associated with hypertriglyceridemia (HTG) in Caucasians, and the MspI site in the third intron of the apoAI gene. 7705829 1995
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 GeneticVariation phenotype BEFREE Polymorphic markers in apolipoprotein C-III gene flanking regions and hypertriglyceridemia. 8696957 1996
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 GeneticVariation phenotype BEFREE These results demonstrate that none of the 5' apoCIII polymorphisms can account for the association of the apoCIII gene locus with hypertriglyceridemia and, moreover, owing to linkage disequilibrium, raise the possibility that the region conferring susceptibility maps downstream, rather than upstream, of the apoCIII gene promoter sequences. 8882875 1996
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 Biomarker phenotype BEFREE Unlike the human apo CII (HuCII)- and apo CIII (HuCIII)-transgenic mouse models of hypertriglyceridemia, plasma cholesterol was disproportionately elevated (95 +/- 23 vs 73 +/- 23, P = 0.002, fasted and 90 +/- 24 vs 61 +/- 14, P < 0.0001, fed). 8698877 1996