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: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.100 Biomarker disease BEFREE We have recently reported that the human apolipoprotein A-I (apoA-I) and apolipoprotein C-III (apoC-III) genes are physically linked and that the presence of a DNA insertion in the apoA-I gene is correlated with apoA-I-apoC-III deficiency in patients with premature atherosclerosis. 2989400 1985
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 GeneticVariation phenotype BEFREE In addition, the presence of a polymorphic restriction endonuclease site (SacI) in the 3' noncoding region of apoC-III mRNA has been correlated with hypertriglyceridemia in humans. 2989400 1985
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		0.020 Biomarker phenotype BEFREE These findings indicate that the polymorphism in the region between the apolipoprotein A-I and apolipoprotein C-III genes may be a useful marker for the risk of premature coronary artery disease and familial hypoalphalipoproteinemia. 3081805 1986
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.010 Biomarker disease BEFREE These findings indicate that the polymorphism in the region between the apolipoprotein A-I and apolipoprotein C-III genes may be a useful marker for the risk of premature coronary artery disease and familial hypoalphalipoproteinemia. 3081805 1986
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		0.020 Biomarker phenotype BEFREE Finally, restriction mapping analysis of DNA from a patient with combined APOA1-APOC3 deficiency and premature coronary artery disease indicated that this patient has a structurally normal APOA4 gene. 3095836 1986
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.100 Biomarker disease BEFREE These results indicate that absence of transcripts with correct apoAI and apoCIII mRNA sequences causes apoAI and apoCIII deficiency in the plasma of these patients and suggest that these apolipoproteins are involved in cholesterol homeostasis and protection against premature atherosclerosis. 3118360 1987
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.100 Biomarker disease BEFREE These results indicate that absence of transcripts with correct apoAI and apoCIII mRNA sequences causes apoAI and apoCIII deficiency in the plasma of these patients and suggest that these apolipoproteins are involved in cholesterol homeostasis and protection against premature atherosclerosis. 3118360 1987
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: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.100 GeneticVariation disease BEFREE DNA polymorphisms in the apolipoprotein C-III and insulin genes and atherosclerosis. 3911967 1985
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.100 GeneticVariation disease BEFREE DNA polymorphisms in the apolipoprotein C-III and insulin genes and atherosclerosis. 3911967 1985
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.100 GeneticVariation disease BEFREE We have recently isolated and characterized the human apo A-I gene and have shown that apo A-I and apolipoprotein C-III (apo C-III) genes are physically linked and that a polymorphism (of unknown frequency in the general population) of the apo A-I gene is inherited as a mendelian trait linked to premature atherosclerosis in an affected family (not the same polymorphism as has previously been reported to be associated with hypertriglyceridaemia). 6314145 1983
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.100 GeneticVariation disease BEFREE We have recently isolated and characterized the human apo A-I gene and have shown that apo A-I and apolipoprotein C-III (apo C-III) genes are physically linked and that a polymorphism (of unknown frequency in the general population) of the apo A-I gene is inherited as a mendelian trait linked to premature atherosclerosis in an affected family (not the same polymorphism as has previously been reported to be associated with hypertriglyceridaemia). 6314145 1983
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 GeneticVariation phenotype BEFREE We have recently isolated and characterized the human apo A-I gene and have shown that apo A-I and apolipoprotein C-III (apo C-III) genes are physically linked and that a polymorphism (of unknown frequency in the general population) of the apo A-I gene is inherited as a mendelian trait linked to premature atherosclerosis in an affected family (not the same polymorphism as has previously been reported to be associated with hypertriglyceridaemia). 6314145 1983
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: 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: 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: 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: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 Biomarker disease BEFREE Among regions with multiple potential candidates is chromosome 11, which includes the apolipoprotein C3 cluster, muscle glycogen phosphorylase, two insulin-dependent diabetes loci, the sulfonylurea receptor, and ataxia telangiectasia. 8593945 1996
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 Polymorphic markers in apolipoprotein C-III gene flanking regions and hypertriglyceridemia. 8696957 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