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: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 AlteredExpression disease BEFREE In the present study, by evaluating G protein-coupled estrogen receptor (GPER), ERα36, and phospho-epidermal growth factor receptor (EGFR) expression in human tissues, we found that GPER, ERα36 and phospho-EGFR were all highly expressed in fibroids compared to patient-matched myometrial tissues. 31468104 2019
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 GeneticVariation disease BEFREE The purpose of this study was to analyze the effect of ERα-351 XbaI A/G, ERα-397 PvuII T/C, and progesterone receptor (PGR) PROGINS polymorphisms on the development of leiomyomas. 30390345 2019
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 Biomarker disease BEFREE It highlights the difficulty in classifying some gastrointestinal SMNs as either LMs or LMSs and the importance of ER status in SMNs. 30431607 2018
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 Biomarker disease BEFREE Transthoracic needle biopsy was performed and the resected lesion consisted of benign spindle cells was positive for estrogen receptor (ER) and progesterone receptor (PR) and was diffuse positive for actin and desmin by immunohistochemical (IHC) staining, suggesting leiomyoma. 28203428 2017
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 Biomarker disease BEFREE ER-alpha, ER-beta, and PR proteins were also higher in leiomyomas and the level of these proteins negatively correlated with the level of 14-3-3 gamma protein. 27100507 2016
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 Biomarker disease BEFREE Estrogen stimulates cell proliferation through binding to the estrogen receptor (ER), of which both subtypes α and β are present in leiomyomas. 26529545 2016
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 Biomarker disease BEFREE One extrauterine, retroperitoneal estrogen receptor-positive leiomyoma was also FH deficient. 27454940 2016
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 Biomarker disease BEFREE A specific category of leiomyomas are estrogen-receptor positive ones in women. 24384850 2014
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 AlteredExpression disease BEFREE The protein expression of ERα, ERβ and aromatase was similar in leiomyoma and normal myometrium (p = 0.239, p = 0.695 and p = 0.203, respectively). 22377971 2012
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 Biomarker disease BEFREE The spearman's rho (ρ) was .53 (P = .008) between HDAC6 and ERα in normal myometrium and, more significantly, the spearman rho was .80 (P < .001) between HDAC6 and ERα in leiomyoma. 21421902 2011
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 GeneticVariation disease BEFREE A T/C SNP in intron 1 and exon 2 boundary of estrogen receptor (ER) alpha gene recognized by PvuII enzyme has been associated with several female pathologies like breast cancer, osteoporosis, endometriosis and fibroids in various ethnic groups. 19729795 2009
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 AlteredExpression disease BEFREE Estrogen receptor subtype alpha mRNA levels were significantly, and 1.8- to 2.6-fold, higher in leiomyoma compared with adjacent myometrium in all groups, whereas leiomyoma estrogen receptor subtype beta mRNA levels were significantly elevated only in Japanese women. 19240151 2009
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 GeneticVariation disease BEFREE Further analysis of the DNA methylation status by bisulfite restriction mapping among 11 paired samples of myometrium and leiomyoma indicated that CpG sites in the distal region of ER-alpha promoter are hypomethylated in leiomyomas of nine patients. 18701604 2008
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 AlteredExpression disease LHGDN A prospective study focusing on leiomyoma was conducted to investigate the expression of estrogen receptor-alpha (ER alpha), estrogen receptor-beta (ER beta) and insulin-like growth factor-I (IGF-I) to elucidate their roles in the pathogenesis of leiomyoma. 19012097 2008
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 AlteredExpression disease BEFREE The level of messenger RNA expression of estrogen receptor alpha and beta and the level of estrogen receptor as a whole are increased on average to a similar extent in leiomyomas compared with normal myometrium. 18166184 2008
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 AlteredExpression disease BEFREE A prospective study focusing on leiomyoma was conducted to investigate the expression of estrogen receptor-alpha (ER alpha), estrogen receptor-beta (ER beta) and insulin-like growth factor-I (IGF-I) to elucidate their roles in the pathogenesis of leiomyoma. 19012097 2008
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 AlteredExpression disease 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
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 Biomarker disease CTD_human Further analysis of the DNA methylation status by bisulfite restriction mapping among 11 paired samples of myometrium and leiomyoma indicated that CpG sites in the distal region of ER-alpha promoter are hypomethylated in leiomyomas of nine patients. 18701604 2008
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 GeneticVariation disease BEFREE 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
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 AlteredExpression disease LHGDN Premenopausal leiomyomas are known to express higher levels of estrogen receptor-alpha (ERalpha), estrogen receptor-beta (ERbeta) and progesterone receptor (PGR) than control myometrium, whereas postmenopausal leiomyomas have not been so well characterized molecularly. 17646097 2007
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 GeneticVariation disease 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
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 Biomarker disease BEFREE Furthermore, our findings provided little support for the association of these SNPs on ESR1 with leiomyoma. 16935316 2006
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 Biomarker disease BEFREE Our in vivo data in a mouse model demonstrate the ability of an adenovirus-expressing dominant-negative ER to arrest leiomyoma growth. 16603566 2006
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 Biomarker disease LHGDN Estrogen and progesterone receptors expression in gastrointestinal stromal tumors and intramural gastrointestinal leiomyomas. 17992477 2006
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.400 GeneticVariation disease BEFREE This study was undertaken to investigate a potential therapy for leiomyoma; we used a mutated dominant-negative estrogen receptor gene delivered via an adenoviral vector (Ad-ER-DN). 15547533 2004