Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 335
Gene Symbol: APOA1
APOA1
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.310 GeneticVariation BEFREE Polymorphisms of apolipoprotein B (ApoB), apolipoprotein A1 (ApoA1) gene and ApoB/ApoA1 Ratio were associated with lipid metabolism disorders in previous reports. 26617857

2015

Entrez Id: 335
Gene Symbol: APOA1
APOA1
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.310 Biomarker CTD_human Effects of triiodothyronine and propylthiouracil on plasma lipoproteins in male rats. 6816881

1982

Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.300 Biomarker CTD_human ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein beta-subunit. 17116638

2006

Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.080 GeneticVariation BEFREE Familial hypercholesterolemia (FH) is the most common hereditary lipid disorder requiring life-long treatment to prevent cardiovascular disease. 31821958

2020

Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.080 Biomarker BEFREE Familial hypercholesterolemia (FH) is a common hereditary lipid disorder associated with substantial risk of premature atherosclerotic cardiovascular disease. 30868157

2019

Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.080 Biomarker BEFREE Taken together, in PA-induced insulin-resistant HepG2 cells, PAQR3 might regulate the phosphorylation of FoxO1 and the expressions of GCK and LDLR through NF-κB pathway, thereby regulating the glucose and lipid metabolism disorders induced by insulin resistance. 31095939

2019

Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.080 Biomarker BEFREE Our findings demonstrated that increased mTORC1 activity exacerbated ECM formation in HPMCs by disrupting LDLr regulation, which contributed to lipid disorder-mediated PF. 30423569

2018

Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.080 AlteredExpression BEFREE Moreover, of the 8 sex-biased genes at these loci, 4 have been directly linked to monogenic disorders of lipid metabolism and show an expression profile in females (elevated expression of ABCA1, APOA5 and LDLR; reduced expression of LIPC) that is consistent with the lower female risk of coronary artery disease. 21858147

2011

Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.080 GeneticVariation BEFREE Autosomal recessive hypercholesterolemia (ARH) is a lipid disorder caused by mutations in a specific adaptor protein for the LDL receptor. 19477448

2009

Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.080 Biomarker BEFREE In some families disease can be explained mostly by a single, major gene (monogenic), of which the lipid disorder Familial Hypercholesterolemia is an example. 11578709

2001

Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.080 Biomarker BEFREE The common variant apoE2 and more than half a dozen rare variants are defective in binding to the low-density lipoprotein (LDL) receptor, and all are causally associated with the lipid disorder type III hyperlipoproteinaemia (HLP). 1619388

1992

Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.070 AlteredExpression BEFREE TPC were also found to suppress the expression levels of PPARα, CPT1 and ACOX, elevate the expression level of MTP and cause the disorder of lipid metabolism. 30709407

2019

Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.070 Biomarker BEFREE In this review, we focus on the function and mechanisms of PPARα in the cardiovascular system under various pathological conditions, including vascular and heart injury, blood pressure regulation, and lipid disorder-related cardiovascular injury, as well as its polymorphisms and pharmacogenetic associations with cardiovascular diseases. 30562729

2018

Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.070 Biomarker BEFREE The above-mentioned findings verified that, after being infected with <i>E. coli</i>, hepatic lipid metabolism disorder was aggravated by activating SREBP-1c related lipid synthesis pathway and inhibiting PPARα related fatty acid oxidation pathway. 30398974

2018

Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.070 GeneticVariation BEFREE Although reducing the number of atherogenic apolipoprotein-B containing particle with lipid-lowering therapy represents the cornerstone of treatment of patients with inherited lipid disorders, lifestyle-related risk factors such as physical inactivity and poor diet quality need to be targeted for the optimal management of these high-risk patients. 28030378

2017

Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.070 AlteredExpression BEFREE A HFD induced atherosclerosis formation and lipid metabolism disorders as well as reduced autophagy expression in the vessel wall of ApoE-knockout mice, but GTP treatment alleviated the lipid metabolism disorders, decreased the oxLDL levels in serum, and increased the mRNA and protein expressions of hepatic PPARα and autophagy markers (LC3, Beclin1 and p62) in the vessel wall of ApoE-knockout mice. 28777810

2017

Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.070 GeneticVariation BEFREE Polymorphisms of apolipoprotein B (ApoB), apolipoprotein A1 (ApoA1) gene and ApoB/ApoA1 Ratio were associated with lipid metabolism disorders in previous reports. 26617857

2015

Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.070 GeneticVariation BEFREE Donor PPARα Gene Polymorphisms Influence the Susceptibility to Glucose and Lipid Disorders in Liver Transplant Recipients: A Strobe-Compliant Observational Study. 26334901

2015

Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.070 GeneticVariation BEFREE Previous studies suggested that Apolipoprotein AI (ApoAI) and apolipoprotein B (ApoB) gene polymorphisms may result in lipid metabolism disorders. 25248404

2014

Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.070 AlteredExpression BEFREE Familial hypobetalipoproteinemia is a disorder of lipid metabolism characterized by extremely low plasma levels of apolipoprotein B as well as low levels of total and low-density lipoprotein cholesterol. 19773654

2009

Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.070 Biomarker BEFREE Statins and fibrates (weak PPARalpha agonists) are prescribed for the treatment of lipid disorders. 16239165

2005

Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.070 Biomarker BEFREE Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism. 16390683

2005

Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.070 AlteredExpression BEFREE Familial combined hyperlipidemia (FCHL) is a genetically complex lipid disorder that is diagnosed in families by combinations of increased cholesterol, triglycerides, and/or apolipoprotein B (apoB) levels in patients and their first-degree relatives. 15308552

2004

Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.070 GeneticVariation BEFREE The aim of the present study was to investigate the relation between TG-related parameters considered in different clinical guidelines used in industrialized countries for the management of lipid disorders (namely fasting plasma TG, high density-lipoprotein cholesterol (HDL-C), non-HDL-C concentrations and total-C/HDL-C ratio) and the presence of LPL-null (P207L), LPL-defective (D9N), PPARalpha -L162V, apolipoprotein (apo) E and PPARgamma-P12A gene mutations, in a sample of 292 hypertriglyceridemic subjects treated with fenofibrate for 3 months. 12042669

2002

Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.070 GeneticVariation BEFREE Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) are relatively common lipid disorders caused by mutations in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (apo B) genes, respectively. 11040093

2000