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: C0011609
Disease: Drug Eruptions
Drug Eruptions
0.300 Biomarker group CTD_human [Screening and identification of differential serum proteins related to dermatitis medicamentosa-like of trichloroethylene]. 21055120 2010
CUI: C0406537
Disease: Morbilliform Drug Reaction
Morbilliform Drug Reaction
0.300 Biomarker disease CTD_human [Screening and identification of differential serum proteins related to dermatitis medicamentosa-like of trichloroethylene]. 21055120 2010
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE Within the apolipoprotein A-I-C-III-A-IV gene cluster, the Ssti polymorphism in the 3' untranslated region of the apolipoprotein C-III gene is the variant site most consistently and strongly associated with raised plasma triglyceride levels and coronary artery disease. 9211063 1997
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 GeneticVariation disease BEFREE Within the apolipoprotein A-I-C-III-A-IV gene cluster, the Ssti polymorphism in the 3' untranslated region of the apolipoprotein C-III gene is the variant site most consistently and strongly associated with raised plasma triglyceride levels and coronary artery disease. 9211063 1997
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.100 GeneticVariation disease BEFREE Within the apolipoprotein A-I-C-III-A-IV gene cluster, the Ssti polymorphism in the 3' untranslated region of the apolipoprotein C-III gene is the variant site most consistently and strongly associated with raised plasma triglyceride levels and coronary artery disease. 9211063 1997
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.100 GeneticVariation phenotype GWASCAT Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. 28548082 2017
High density lipoprotein measurement
0.100 GeneticVariation phenotype GWASCAT Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. 28548082 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.060 GeneticVariation group BEFREE While there is no evidence for a significant association of several common lipoprotein-related genetic variants with carotid IMT, our results are consistent with the previously reported role of CETP and LPL genetic variants in cardiovascular risk and the possible modulation of the association between hypertension and carotid IMT by APOCIII Sst-1 variant. 16430904 2006
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE While loss of insulin response is associated with unrestrained apoC-III production and impaired triglyceride metabolism, these data suggest that Foxo1 provides a molecular link between insulin deficiency or resistance and aberrant apoC-III production in the pathogenesis of diabetic hypertriglyceridemia. 15546000 2004
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.200 GeneticVariation disease BEFREE When stratifying by hyperlipidemia, CAD patients with hyperlipidemia had a significantly higher frequency of APOC3 3238 GG genotype (OR =1.73, 95% CI =1.13, 2.64; P = 0.01) than without hyperlipidemia. 25380998 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.400 GeneticVariation group BEFREE When put in the context of studies demonstrating significant protection from cardiovascular events in individuals with loss of function variants in the APOC3 gene, our results provide strong evidence that therapies which increase the efficiency of conversion of VLDL to LDL, thereby reducing remnant concentrations, should reduce the risk of cardiovascular disease. 30580564 2019
Congenital Disorders of Glycosylation
0.040 Biomarker group BEFREE When compared with age-matched controls, COG5-CDG showed a significant increase of apoC-III<sub>0a</sub> (aglycosylated glycoform), whereas apoC-III<sub>1</sub> (mono-sialylated glycoform) decreased significantly. 28444691 2017
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
Diabetes Mellitus, Insulin-Dependent
0.270 GeneticVariation disease BEFREE We therefore hypothesize haplotypes within the apoCIII gene are associated with type 1 diabetes. 16505251 2006
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease BEFREE We studied the association of HDL cholesterol (HDL-C), apoA1, apoCIII, apoD, and apoE as well as the ratios of apolipoproteins with apoA1 with the risk of T2D. 28031419 2017
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.100 Biomarker disease BEFREE We studied the association between the genes patatin-like phospholipase domain-containing protein 3 (PNPLA3) and apolipoprotein C3 (APOC3) and metabolic and histological parameters of NAFLD in obese patients. 23512881 2013
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 GeneticVariation phenotype BEFREE We studied apoCIII gene polymorphisms, apolipoprotein E genotypes and lipoprotein-lipase gene mutations in 176 patients with Type II (non-insulin-dependent) diabetes mellitus, either normolipaemic (group N, n = 116), mildly hypertriglyceridaemic (group T, n = 28) or with a history of severe hypertriglyceridaemia (triglyceride > 15 g/l) (group H, n = 32). 11126401 2000
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.100 AlteredExpression group BEFREE We sought to identify single nucleotide polymorphisms (SNPs) associated with apoC-III level response to combination therapy with statins and fenofibric acid (FA) in individuals with mixed dyslipidemia. 22236405 2012
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE We showed that ApoC3-transgenic mice, as opposed to age/sex-matched wild-type littermates, develop hypertriglyceridemia with concomitant elevations in plasma cholesterol and non-esterified fatty acid levels. 27226540 2016
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE We show that expression of a mouse apoC-III transgene can also cause hypertriglyceridemia with a similar accumulation of a VLDL-like particle with increased apoC-III and decreased apoE. 8864964 1996
Cholesteryl Ester Transfer Protein Deficiency
0.320 GeneticVariation disease BEFREE We set out to investigate the prevalence and clinical consequences of APOC3 mutations in individuals with hyperalphalipoproteinemia. 23701270 2014
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype BEFREE We sequenced APOC3 3'UTR in 100 type 2 diabetic (TD2) patients with severe HTG (TG > 15 mmol/L) (HTG group) compared to 100 normotriglyceridemic patients (NTG group). 27794214 2016
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
0.010 Biomarker disease BEFREE We sequenced APOC3 3'UTR in 100 type 2 diabetic (TD2) patients with severe HTG (TG > 15 mmol/L) (HTG group) compared to 100 normotriglyceridemic patients (NTG group). 27794214 2016
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.100 Biomarker disease BEFREE We measured apoC3 concentration change in patients with CHD before and after long-term aerobic exercise. 30511426 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.100 Biomarker disease BEFREE We investigated how the presence of apoC-III affects the association between HDL and early stages of atherosclerosis measured as carotid intima-media thickness (cIMT). 29351856 2018