Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.600 GeneticVariation disease BEFREE In this population-based case-control study, the frequencies of -911 C>A polymorphism (rs3761740) of the HMGCR gene in patients with coronary heart disease (CHD) and healthy subjects were investigated and the correlations between the different genotypes and hypercholesterolemia with cardiovascular risk factors were analyzed. 23933271 2013
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.600 GeneticVariation disease BEFREE Statins (3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors) are the most commonly prescribed therapeutic agents for treating hypercholesterolemia globally. 30120976 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.600 GeneticVariation disease BEFREE Pharmacotherapy is an important and effective treatment modality for hypercholesterolaemia, with 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors ('statins') the most commonly used class of drugs. 23568333 2013
CUI: C0026848
Disease: Myopathy
Myopathy
0.370 GeneticVariation group BEFREE Although risk factors for daptomycin-associated myopathy are poorly defined, creatine phosphokinase (CPK) monitoring and temporary discontinuation of 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors, or "statins," has been recommended. 29668884 2018
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.360 GeneticVariation disease BEFREE Role of rs3846662 and HMGCR alternative splicing in statin efficacy and baseline lipid levels in familial hypercholesterolemia. 26466344 2016
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.360 GeneticVariation disease BEFREE We have studied the effect of lovastatin, an inhibitor of the rate-limiting enzyme in cholesterol biosynthesis (3-hydroxy-3-methylglutaryl coenzyme A reductase), alone and in combination with the bile acid sequestrant cholestyramine on lipid parameters in 30 heterozygous patients with familial hypercholesterolemia (FH) during a 20-week open trial. 3056429 1988
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.340 GeneticVariation disease BEFREE We have studied the effect of lovastatin, an inhibitor of the rate-limiting enzyme in cholesterol biosynthesis (3-hydroxy-3-methylglutaryl coenzyme A reductase), alone and in combination with the bile acid sequestrant cholestyramine on lipid parameters in 30 heterozygous patients with familial hypercholesterolemia (FH) during a 20-week open trial. 3056429 1988
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.340 GeneticVariation disease BEFREE Role of rs3846662 and HMGCR alternative splicing in statin efficacy and baseline lipid levels in familial hypercholesterolemia. 26466344 2016
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.310 GeneticVariation group BEFREE However, deletion of HMGCR specifically in T<sub>regs</sub> resulted in severe autoimmunity, suggesting that this enzyme is also essential for the maintenance of T<sub>regs</sub>. 28542128 2017
Diabetes Mellitus, Non-Insulin-Dependent
0.250 GeneticVariation disease BEFREE The increased risk of type 2 diabetes noted with statins is at least partially explained by HMGCR inhibition. 25262344 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.250 GeneticVariation disease BEFREE The HMGCR variants were also associated with risk of T2DM, although their previously reported associations with anthropometric traits were found to be confounded. 30645167 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.250 GeneticVariation disease BEFREE Triglyceride-lowering alleles in LPL were associated with protection from coronary disease (approximately 40% lower odds per SD of genetically lower triglycerides) and type 2 diabetes (approximately 30% lower odds) in people above or below the median of the population distribution of LDL-C-lowering alleles at 58 independent genomic regions, HMGCR, NPC1L1, or PCSK9. 30326043 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.250 GeneticVariation disease BEFREE Alleles near HMGCR are associated with a higher risk of type 2 diabetes, similar to the increased incidence of new-onset diabetes associated with statin treatment in randomized clinical trials. 27701660 2016
Diabetes Mellitus, Non-Insulin-Dependent
0.250 GeneticVariation disease BEFREE Importantly, we demonstrate that ScrF I polymorphism of the HMGCR gene in patients with T2DM groups is associated with significant elevation of serum VLDL-C levels. 17870053 2007
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Genetic variation at the LDL receptor and HMG-CoA reductase gene loci, lipid levels, statin response, and cardiovascular disease incidence in PROSPER. 18261733 2008
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Inhibitors of 3-hydroxy-3-methylglutaryl-coenzyme A reductase (statins) are prescribed to lower serum cholesterol levels and reduce the risk of CVD. 22688219 2013
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Statins inhibit the action of the enzyme 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA), which is important in the synthesis of cholesterol and essential isoprenoid intermediates, thereby lowering circulating low-density lipoprotein cholesterol (LDL), a major risk factor for cardiovascular disease (CVD). 29935271 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE We analysed the sequence of the HMG-CoA reductase gene in DNA extracted from blood samples of 16 patients with cardiovascular disorders. 19187128 2009
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.190 GeneticVariation disease BEFREE In this population-based case-control study, the frequencies of -911 C>A polymorphism (rs3761740) of the HMGCR gene in patients with coronary heart disease (CHD) and healthy subjects were investigated and the correlations between the different genotypes and hypercholesterolemia with cardiovascular risk factors were analyzed. 23933271 2013
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.190 GeneticVariation disease BEFREE A preliminary study of the relationship between promoter methylation of the ABCG1, GALNT2 and HMGCR genes and coronary heart disease. 25084356 2014
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.190 GeneticVariation disease BEFREE Triglyceride-lowering alleles in LPL were associated with protection from coronary disease (approximately 40% lower odds per SD of genetically lower triglycerides) and type 2 diabetes (approximately 30% lower odds) in people above or below the median of the population distribution of LDL-C-lowering alleles at 58 independent genomic regions, HMGCR, NPC1L1, or PCSK9. 30326043 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.190 GeneticVariation disease BEFREE The aim of this study was to assess the association in the low-density lipoprotein cholesterol reduction by atorvastatin and (TTA)n polymorphism in the 3-hydroxy-3-methylglutaryl-coenzyme A reductase gene in patients with coronary artery disease. 19067673 2009
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.190 GeneticVariation disease BEFREE This suggests that both polymorphisms in the HMGCR gene may be associated with lipid and lipoprotein abnormalities in CHD in the Chinese. 15233402 2004
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.190 GeneticVariation disease GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011