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: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency 		0.610 CausalMutation disease CLINVAR
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency 		0.610 Biomarker disease CTD_human
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.460 Biomarker disease GENOMICS_ENGLAND
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.460 Biomarker disease HPO
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.200 Biomarker disease HPO
CUI: C0542037
Disease: Hypotriglyceridemia
Hypotriglyceridemia 		0.110 Biomarker disease HPO
CUI: C0853085
Disease: Decreased LDL cholesterol concentration
Decreased LDL cholesterol concentration 		0.100 Biomarker phenotype HPO
CUI: C4015848
Disease: APOLIPOPROTEIN C-III, NONGLYCOSYLATED PHENOTYPE
APOLIPOPROTEIN C-III, NONGLYCOSYLATED PHENOTYPE 		0.100 CausalMutation phenotype CLINVAR
CUI: C4551591
Disease: Increased HDL cholesterol concentration
Increased HDL cholesterol concentration 		0.100 Biomarker phenotype HPO
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: 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: 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: 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: 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: 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 AlteredExpression phenotype BEFREE Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice. 2167514 1990
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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease BEFREE Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction. 2862468 1985
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.200 GeneticVariation disease BEFREE We have studied the frequency of DNA polymorphisms in and around the apolipoprotein A-1 (Apo-A1) and apolipoprotein CIII (Apo-CIII) gene loci in 53 persons of Caucasian descent with genetic hyperlipidemias. 2883893 1987
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.010 AlteredExpression disease BEFREE Our data provide further evidence that these RFLPs around and within the Apo-A1/Apo-CIII genes do not participate in unmasking clinical expression in persons with familial dysbetalipoproteinemia. 2883893 1987
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		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