Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation LHGDN [The XbaI and PvuII gene polymorphisms of the estrogen receptor alpha gene in Chinese women with breast cancer]. 15842934

2005

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.400 GeneticVariation LHGDN [Puvll and Xbal gene polymorphisms of estrogen receptor alpha in children and young adults with cancer from north-eastern region of Poland]. 18942332

2008

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 AlteredExpression LHGDN [Profile of estrogen receptor alpha isoforms in endometrial adenocarcinoma]. 14674143

2003

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression LHGDN Wnt-5a signaling restores tamoxifen sensitivity in estrogen receptor-negative breast cancer cells. 19237581

2009

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 Biomarker LHGDN With the aim of evaluating the relationship between pituitary tumorigenesis and the presence of estrogen receptor-alpha (ERalpha) by immunohistochemistry (IH) and their relevance to patients' clinical presentation, hormonal phenotypes of adenomas, preoperative neuroimaging findings, and the index of cellular replication MIB-1, a study was conducted with material from 91 women and 67 men with pituitary adenomas. 15103224

2004

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression LHGDN Wilms' tumor 1 suppressor gene mediates antiestrogen resistance via down-regulation of estrogen receptor-alpha expression in breast cancer cells. 18708366

2008

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.400 GeneticVariation 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

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.010 AlteredExpression LHGDN We examined the relation of polymorphisms in ESR1 to the risk of AD in women with Down syndrome. 18408366

2008

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 AlteredExpression LHGDN We examined the relation of polymorphisms in ESR1 to the risk of AD in women with Down syndrome. 18408366

2008

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.100 GeneticVariation LHGDN We conclude that estrogen receptor alpha codon 594 genotype may influence the development of systemic lupus erythematosus at a younger age, as well as a certain disease clinical pattern. 15934440

2005

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 GeneticVariation LHGDN We aimed to elucidate the association of estrogen receptor alpha (ERalpha)-351 A>G (XbaI) and -397 T>C (PvuII) gene polymorphisms with endometriosis and leiomyoma. 17121748

2007

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.200 GeneticVariation LHGDN We aimed to elucidate the association of estrogen receptor alpha (ERalpha)-351 A>G (XbaI) and -397 T>C (PvuII) gene polymorphisms with endometriosis and leiomyoma. 17121748

2007

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.080 GeneticVariation LHGDN Vitamin D and estrogen receptor gene polymorphisms and the risk of colorectal cancer in Bulgaria. 16788818

2007

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression LHGDN Vav3 oncogene activates estrogen receptor and its overexpression may be involved in human breast cancer. 18518979

2008

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression LHGDN Various phosphorylation pathways, depending on agonist and antagonist binding to endogenous estrogen receptor alpha (ERalpha), differentially affect ERalpha extractability, proteasome-mediated stability, and transcriptional activity in human breast cancer cells. 12855746

2003

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker LHGDN Transgenic introduction of androgen receptor into estrogen-receptor-, progesterone-receptor-, and androgen-receptor-negative breast cancer cells renders them responsive to hormonal manipulation. 16647340

2006

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.200 AlteredExpression LHGDN To evaluate the local matrix metalloproteinase 1 (MMP-1), estrogen receptor (ER) alpha, and ERbeta protein expression in eutopic and dystopic tissue from patients with endometriosis and to compare the endometrial expression pattern in women with and without endometriosis. 16210018

2005

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression LHGDN TNF alpha-induced down-regulation of estrogen receptor alpha in MCF-7 breast cancer cells. 18483465

2008

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 GeneticVariation LHGDN This study seeks to investigate the association between the ESR1 haplotype created by the c.454-397 T>C and c.454-351 A>G polymorphisms, the length of the (TA)n repeats, and the angiographic extent of CAD. 16159931

2005

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 GeneticVariation LHGDN This study investigated whether variants of the ESR1 gene are associated with autopsy-verified coronary artery wall atherosclerosis and thrombosis. 11894143

2002

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.400 GeneticVariation LHGDN Therefore, we conclude that ESR1 G325C polymorphism is associated with migraine in our population. 16361951

2006

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0269084
Disease: Vulvar Vestibulitis
Vulvar Vestibulitis
0.010 AlteredExpression LHGDN There appears to be a subgroup of women with vulvar vestibulitis syndrome who exhibit abnormal estrogen receptor-alpha expression. 14520218

2003

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker LHGDN The transcription factor snail mediates epithelial to mesenchymal transitions by repression of estrogen receptor-alpha. 17761946

2007

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression LHGDN The transcription factor GATA-3 is required for normal mammary gland development, and its expression is highly correlated with estrogen receptor alpha (ER alpha) in human breast tumors. 17616709

2007

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker LHGDN The SWI/SNF chromatin remodeling subunit BAF57 is a critical regulator of estrogen receptor function in breast cancer cells. 16769725

2006