ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 Biomarker disease BEFREE Thrombolytic Therapy in the Current ERA: Myocardial Infarction and Beyond. 29283052 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 GeneticVariation disease BEFREE The aim of the study was to investigate the role of estrogen receptor type 2 gene (ESR2) variant G1730A in myocardial infarction (MI) in young age. 30036658 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 Biomarker disease BEFREE By merging these FFLs, the first miRNA and TF mediated regulatory network for MI was constructed, from which four regulators (SP1, ESR1, miR-21-5p and miR-155-5p) and three regulatory modules that might play crucial roles in MI were then identified. 26258537 2015
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 GeneticVariation disease BEFREE An association of the common ESR1 -397T>C and -351A>G polymorphisms and of other polymorphisms with cardiovascular disease and with myocardial infarction is still not firmly established. 22061094 2012
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 GeneticVariation disease BEFREE The -351A/G polymorphism of ESR1 is associated with risk of myocardial infarction but not with extreme longevity. 20599431 2010
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 GeneticVariation disease BEFREE No significant association between ESR1 rs2234693 and MI was observed in our sample or in the meta-analysis (16 studies; N approximately 32,000; OR approximately 1). 19608186 2009
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 GeneticVariation disease BEFREE Recently, single nucleotide polymorphisms (SNPs) of the estrogen receptor alpha (ESR-1) gene (c.454-397T>C) associated with the prognosis of myocardial infarction in postmenopausal women were identified; however, the mechanism by which genetic variation of ESR-1 contributes to the pathogenesis of CVD is unknown. 19556726 2009
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 GeneticVariation disease BEFREE The estrogen receptor-1 (ESR1, c.454-397T>C) CC variant genotype is associated with the severity of coronary artery disease (CAD) and an increased risk of myocardial infarction in men. 17558892 2007
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 GeneticVariation disease BEFREE Estrogen receptor alpha gene variation is associated with risk of myocardial infarction in more than seven thousand men from five cohorts. 16484614 2006
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 GeneticVariation disease BEFREE The reported association has the potential to explain the risks associated with estrogen use in certain women and a recent report of association between an ESR1 haplotype comprised of c.454-397 T and c.454-351 A alleles with increased myocardial infarction and ischaemic heart disease, independent of the standard, established cardiovascular risk factors. 16014638 2005
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 GeneticVariation disease BEFREE In previous association studies, the -397T/C (rs2234693) and -351A/G (rs9340799) single nucleotide polymorphisms in the estrogen receptor alpha gene (ESR1) have been implicated in the risk of coronary atherosclerosis and myocardial infarction. 16203927 2005
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 GeneticVariation disease BEFREE To determine whether the ESR1 haplotype created by the c.454-397T>C (PvuII) and c.454-351A>G (XbaI) polymorphisms is associated with myocardial infarction (MI) and IHD risk. 15213208 2004
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 GeneticVariation disease LHGDN Whether ESR1 c.454-397T>C is causally related to MI risk or in linkage disequilibrium with 1 or more causal variants remains to be determined. 14600184 2003
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 Biomarker disease CTD_human Whether ESR1 c.454-397T>C is causally related to MI risk or in linkage disequilibrium with 1 or more causal variants remains to be determined. 14600184 2003
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 GeneticVariation disease BEFREE We may conclude that in Caucasian women the length of the dinucleotide (TA) repeat in the regulatory region of the alpha-estrogen receptor gene is neither associated with premature myocardial infarction nor with serum lipid levels. 12824724 2003
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 GeneticVariation disease BEFREE Whether ESR1 c.454-397T>C is causally related to MI risk or in linkage disequilibrium with 1 or more causal variants remains to be determined. 14600184 2003