APOA5, apolipoprotein A5, 116519

N. diseases: 107; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		0.720 GermlineCausalMutation disease ORPHANET "Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an ""FCS score""." 29980054 2018
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		0.720 GeneticVariation disease BEFREE We report a novel homozygous apolipoprotein A5 (APOA5) frameshift mutation (c.G425del-C, p.Arg143AlafsTer57) identified in a 12-year-old boy of Pakistani origin with severe hypertriglyceridemia (up to 35 mmol/L) and type V hyperlipoproteinemia. 27678447 2017
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		0.720 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		0.720 GermlineCausalMutation disease ORPHANET Chylomicronaemia--current diagnosis and future therapies. 25732519 2015
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		0.720 GeneticVariation disease BEFREE Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. 16200213 2005
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		0.720 Biomarker disease GENOMICS_ENGLAND Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. 16200213 2005
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		0.720 Biomarker disease CTD_human
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		0.720 CausalMutation disease CLINVAR
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 GeneticVariation phenotype BEFREE Indeed, aberrations in plasma concentration or structure of APOA5 are linked to hypertriglyceridemia, hyperchylomicronemia, myocardial infarction risk, obesity, and coronary artery disease. 31831525 2020
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 Biomarker phenotype BEFREE Approach and Results- Here, we reconstitute the environment-induced hypertriglyceridemia phenotype of human APOA5 deficiency in Apoa5<sup>-/-</sup> mice and delineate the role of SREBP-1c in vivo by generating Apoa5<sup>-/-</sup> ;Srebp-1c<sup>-/-</sup> mice. 30700132 2019
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 GeneticVariation phenotype BEFREE Sixteen SNPs were significantly associated with an increased risk of HTG development, with odds ratios (ORs) (95% confidence interval [CI]) varying from 1.40 (1.01-1.95) to 4.69 (3.29-6.68) (rs964184 within the APOA5 gene). 31222479 2019
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 GeneticVariation phenotype BEFREE Severe hypertriglyceridaemia and pancreatitis in a patient with lipoprotein lipase deficiency based on mutations in lipoprotein lipase (LPL) and apolipoprotein A5 (APOA5) genes. 30948399 2019
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 GeneticVariation phenotype BEFREE Among the 238 patients registered with severe hypertriglyceridemia (fasting triglycerides >1000 mg/dL), 26 were diagnosed with FCS as they had confirmed postheparin plasma LPL activity deficiency and/or homozygosity for loss-of-function mutations in LPL, GPIHBP1, APOC2, LMF1, or Apolipoprotein A5 (APOA5). 30150141 2019
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 GeneticVariation phenotype BEFREE Co-occurrence of heterozygous CREB3L3 and APOA5 nonsense variants and polygenic risk in a patient with severe hypertriglyceridemia exacerbated by estrogen administration. 29954705 2019
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 Biomarker phenotype BEFREE Previous studies have demonstrated that mutations in lipoprotein lipase (LPL), apolipoprotein CII (APOC2), apolipoprotein AV (APOA5), glycosylphosphatidylinositol anchored high-density lipoprotein-binding protein 1 (GPIHBP1), lipase maturation factor 1(LMF1), and glycerol-3 phosphate dehydrogenase 1 (GPD1) are responsible for HTG by using genomic microarrays and next-generation sequencing. 29910226 2019
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 GeneticVariation phenotype BEFREE Variants in the lipoprotein lipase (LPL), apolipoprotein C-II (APOC2), apolipoprotein A-V (APOA5), GPIHBP1 and LMF1 genes may cause severe hypertriglyceridemia (HTG), which is now the second-leading aetiology of acute pancreatitis in China. 29921298 2018
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 GeneticVariation phenotype BEFREE Another child was found to be homozygous for a nonsense variant of APOA5, which was also found in homozygous state in his father with longstanding HyperTG. 28951076 2018
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 GeneticVariation phenotype BEFREE In summary, magnolol could effectively lower the plasma triglyceride levels in APOA5 c.553G>T variant carrier mice and facilitate the triglyceride metabolism in postprandial hypertriglyceridemia. 29425239 2018
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 GeneticVariation phenotype BEFREE Polymorphisms of the genes MTHFR (rs1801133) and APOA5 (rs662799), as well as anemia, are independent risk factors for stroke in Mexicans, together with traditional cardiovascular risk factors such as high triglycerides and high blood pressure. 29398535 2018
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 Biomarker phenotype BEFREE Association of APOA5 and APOC3 Genetic Polymorphisms With Severity of Hypertriglyceridemia in Patients With Cutaneous T-Cell Lymphoma Treated With Bexarotene. 30422238 2018
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 GeneticVariation phenotype BEFREE In summary, APOA5 variants cause hypertriglyceridemia. 28500476 2017
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 Biomarker phenotype BEFREE To examine the genetic variants of 3 candidate genes known to influence triglyceride metabolism, LPL, APOC2, and APOA5, which encode lipoprotein lipase, apolipoprotein C-II, and apolipoprotein A-V, respectively, in a large group of Thai subjects with severe hypertriglyceridemia. 27206937 2017
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 GeneticVariation phenotype BEFREE We aimed to evaluate the associations of single nucleotide polymorphisms (SNPs) in APOA5, including -1131T>C and c.553G>T, with hypertriglyceridemia, apoA5 concentrations, atherogenic LDL cholesterol levels, and arterial stiffness in hypertriglyceridemic patients. 29211729 2017
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 GeneticVariation phenotype BEFREE Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk. 27678447 2017