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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 AlteredExpression LHGDN (3) The breast cancers with bone metastasis were more likely to be estrogen receptor positive (85%) and androgen receptor positive (95%) compared with those without bone metastasis (59% and 74%, respectively, both P < .05). 18715613

2008

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 AlteredExpression LHGDN 14-3-3 sigma expression inversely correlated with estrogen receptor alpha, progesterone receptor and Efp, and positively correlated with myometrial invasion and lymph node metastasis. 16271083

2005

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker LHGDN 17beta-Estradiol inhibits osteoprotegerin production by the estrogen receptor-alpha-positive human breast cancer cell line MCF-7. 18252198

2008

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker LHGDN 2,3,7,8-Tetrachlorodibenzo-p-dioxin modulates the induction of DNA strand breaks and poly(ADP-ribose) polymerase-1 activation by 17beta-estradiol in human breast carcinoma cells through alteration of CYP1A1 and CYP1B1 expression. 18558727

2008

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0003130
Disease: Anoxia
Anoxia
0.020 Biomarker LHGDN Hypoxia induces proteasome-dependent degradation of estrogen receptor alpha in ZR-75 breast cancer cells. 12351689

2002

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.100 GeneticVariation LHGDN Estrogen-receptor polymorphisms and effects of estrogen replacement on high-density lipoprotein cholesterol in women with coronary disease. 11919305

2002

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.090 GeneticVariation LHGDN Estrogen receptor alpha polymorphisms and renal cell carcinoma--a possible risk. 12770739

2003

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression LHGDN Estrogen receptor alpha (ERalpha) negative breast tumors often present with enhanced expression and/or activation of growth factor receptors, resulting in increased growth factor signaling and hyperactivation of MAPK (ERK1 and ERK2). 15056731

2004

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 AlteredExpression LHGDN Estrogen receptor-alpha expression in endometrium was lower than in leiomyomas and myometrium. 15474102

2004

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.070 AlteredExpression LHGDN Estrogen receptor alpha mRNA levels were reduced in the basomedial nucleus in major depressive disorder and bipolar disorder. 15576061

2004

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.330 AlteredExpression LHGDN Estrogen receptor alpha mRNA levels were reduced in the basomedial nucleus in major depressive disorder and bipolar disorder. 15576061

2004

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.200 GeneticVariation LHGDN Estrogen receptor alpha dinucleotide repeat and cytochrome P450c17alpha gene polymorphisms are associated with susceptibility to endometriosis. 15749482

2005

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation LHGDN Estrogen receptor-alpha splice variants in the medial mamillary nucleus of Alzheimer's disease patients: identification of a novel MB1 isoform. 15755860

2005

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0206650
Disease: Fibroadenoma
Fibroadenoma
0.040 AlteredExpression LHGDN ER-alpha was higher in fibroadenomas of patients in follicular phase versus contraceptive users and normal tissue (P=0.003); bcl-2 was higher in fibroadenomas of patients in luteal phase than in the normal samples from all groups (P=0.007). c-myc did not differ according to menstrual cycle, but was higher in fibroadenomas>3 cm versus<3 cm (P=0.015) and in nulliparous women (P=0.04). 15763593

2005

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 AlteredExpression LHGDN Estrogen receptor alpha and beta heterodimers exert unique effects on estrogen- and tamoxifen-dependent gene expression in human U2OS osteosarcoma cells. 15802376

2005

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.200 GeneticVariation LHGDN Estrogen receptor dinucleotide repeat polymorphism is associated with minimal or mild endometriosis. 16169423

2005

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.200 GeneticVariation LHGDN Estrogen receptor gene polymorphisms are associated with recurrence of endometriosis. 16500359

2006

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.010 GeneticVariation LHGDN Estrogen receptor alpha genotype is associated with a reduced prevalence of radiographic hip osteoarthritis in elderly Caucasian women. 17419075

2007

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0018206
Disease: granulosa cell tumor
granulosa cell tumor
0.040 AlteredExpression LHGDN Estrogen receptor alpha and PR were frequently expressed in adult granulosa cell tumors (66% and 98%, respectively) and Sertoli-Leydig cell tumors (79% and 86%, respectively). 17885486

2007

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 PosttranslationalModification LHGDN Estrogen receptor and HER2/neu status affect epigenetic differences of tumor-related genes in primary breast tumors. 18485221

2008

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 AlteredExpression LHGDN A low concentration of genistein induces estrogen receptor-alpha and insulin-like growth factor-I receptor interactions and proliferation in uterine leiomyoma cells. 18492705

2008

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation LHGDN A multigenic study on breast cancer risk associated with genetic polymorphisms of ER Alpha, COMT and CYP19 gene in BRCA1/BRCA2 negative Shanghai women with early onset breast cancer or affected relatives. 17562079

2007

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker LHGDN A novel gene STYK1/NOK is upregulated in estrogen receptor-alpha negative estrogen receptor-beta positive breast cancer cells following estrogen treatment. 17415682

2008

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
0.040 Biomarker LHGDN A novel mutation of estrogen receptor gene detected in girls with precocious puberty. 16252695

2005

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.400 GeneticVariation LHGDN A population-based cohort of 224 migraine sufferers and 224 matched controls were genotyped for the G594A polymorphism located in exon 8 of the ESR1 gene. 15133719

2004