Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation 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

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 Biomarker 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

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation 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

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation 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

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation 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

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation 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

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 Biomarker 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

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation 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

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation 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

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation 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

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation 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

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 Biomarker BEFREE Association of APOA5 and APOC3 Genetic Polymorphisms With Severity of Hypertriglyceridemia in Patients With Cutaneous T-Cell Lymphoma Treated With Bexarotene. 30422238

2018

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation BEFREE In summary, APOA5 variants cause hypertriglyceridemia. 28500476

2017

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 Biomarker 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

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation 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

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation BEFREE Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk. 27678447

2017

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 Biomarker BEFREE Relationship of Serum Apolipoprotein A-V Levels, Oxidative Stress and Inflammatory Biomarkers with Hypertriglyceridemia in Type 2 Diabetes Mellitus. 28848612

2017

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation BEFREE Functional defects of the ApoA5 protein have been identified as risk factors for hypertriglyceridemia, vascular diseases and susceptibility to metabolic syndrome (MetS). 26760709

2016

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation BEFREE Compared with APOA5 c.553 GG carriers, c.553T carriers displayed an increased risk of HTG in the Asian population, with an overall random effects OR of 3.55 (95% CI: 2.46-5.13) in the dominant model. 27813673

2016

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation BEFREE ApoA5 loss-of-function single nucleotide polymorphisms are associated with reduced lipolysis, poor remnant clearance and concomitantly, hypertriglyceridemia. 26028042

2015

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation BEFREE To elucidate the underlying mechanism of gestational hypertriglyceridemic pancreatitis, we undertook DNA mutation analysis of the lipoprotein lipase (LPL), apolipoprotein C2 (APOC2), apolipoprotein A5 (APOA5), lipase maturation factor 1 (LMF1), and glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) genes in five unrelated pregnant Chinese women with severe hypertriglyceridemia and pancreatitis. 26079787

2015

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation BEFREE Only APOA5 c.553 G > T (rs2075291), resulting in the amino acid mutation rs2075291" genes_norm="116519">Gly185Cys, co-segregated well with hypertriglyceridemia in terms of autosomal recessive inheritance (homozygote TT: mean triglyceride level: 1,071 mg/dL vs non TT (GT and GG): mean triglyceride level: 118 mg/dL; p < 0.001) in the index family. 25843152

2015

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation BEFREE The apolipoprotein A5 gene (APOA5) -1131 T > C polymorphism is associated with mild hypertriglyceridemia in type 2 diabetic subjects, and interacts with dietary fat in the determination of triglyceride concentrations. 24690159

2014

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation BEFREE LPL p.474X and FABP2 p.55T were associated with decreased total cholesterol and LDL-C, respectively; APOA5 p.19W with increased HDL-C; APOA5 p.19W and FABP2 p.55T with increased triglycerides; and APOB p.4181K and LDLR c.1959T with decreased triglycerides. 25587205

2014

Entrez Id: 116519
Gene Symbol: APOA5
APOA5
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.700 GeneticVariation BEFREE Gene transfer studies were undertaken in apoa5 (-/-) mice to define the mechanism underlying the correlation between the single-nucleotide polymorphism c.553G>T in APOA5 and hypertriglyceridemia. 25127531

2014