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: C0013336
Disease: Dwarfism
Dwarfism
0.010 Biomarker disease BEFREE Estradiol and estrogen receptor α in the mPOA and MeA in dwarf hamster (Phodopus campbelli) fathers. 31816282 2020
CUI: C0032285
Disease: Pneumonia
Pneumonia
0.010 AlteredExpression disease BEFREE Estrogen, a major female sex steroid mediates its role through estrogen receptors (ER) ERα and ERβ, which are shown to be expressed in human ASM, and their expression is upregulated in lung inflammation and asthma. 31617730 2020
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.010 Biomarker disease BEFREE MMR deficiency is significantly associated with inferior overall (HR 2.29, 95% CI 1.02-5.17, p = 0.040) and disease-specific survival (HR 2.71, 95% CI 1.00-7.35, p = 0.042) in the 431 estrogen receptor-positive patients who were uniformly treated with tamoxifen as their sole adjuvant systemic therapy. 31522348 2020
CUI: C0376620
Disease: Pouchitis
Pouchitis
0.010 Biomarker disease BEFREE Secondary outcomes included decrease in total Pouchitis Disease Activity Index (PDAI) Score ≥ 3 at week 4, bowel movement frequency, ESR, CRP, fecal calprotectin, abdominal pain, and PDAI subscores including endoscopic and histologic changes. 31302808 2020
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 GeneticVariation disease BEFREE The risk of SPM was significantly related to the following demographical and clinical variables: age (40-59 vs. 18-39, HR = 1.33; 60-79 vs. 18-39, HR = 2.39; ≥80 vs. 18-39, HR = 2.84), race (black vs. white, HR = 1.12), histological type (lobular BC vs. ductal BC, HR = 1.15), radiotherapy (HR = 1.33), marital status (married vs. single, HR = 0.88) and estrogen receptor status (positive vs. negative, HR = 0.85). 30861567 2020
CUI: C3696962
Disease: Coronary microvascular dysfunction
Coronary microvascular dysfunction
0.010 Biomarker disease BEFREE Coronary Microvascular Dysfunction and Estrogen Receptor Signaling. 31787492 2020
CUI: C3714636
Disease: Pneumonitis
Pneumonitis
0.010 AlteredExpression disease BEFREE Estrogen, a major female sex steroid mediates its role through estrogen receptors (ER) ERα and ERβ, which are shown to be expressed in human ASM, and their expression is upregulated in lung inflammation and asthma. 31617730 2020
CUI: C3714757
Disease: Juvenile rheumatoid arthritis
Juvenile rheumatoid arthritis
0.010 Biomarker disease BEFREE Early systematic monitoring of AAA at 3M may, therefore, guide drug switching in these patients.Key Points• Anti-adalimumab antibodies (AAA) production kinetics demonstrated a timely significant increase starting at 3M in juvenile idiopathic arthritis (JIA) patients under adalimumab therapy• Female gender, increased ESR, and leflunomide use were identified as relevant risk factors for AAA production in JIA, whereas methotrexate was protective. 31707543 2020
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.010 Biomarker phenotype BEFREE Risk factors for the development of nephritis were age ≥ 8 years, atypical distribution of purpura, ESR > 20 mm/h and abdominal pain. 30895528 2019
CUI: C0000833
Disease: Abscess
Abscess
0.010 AlteredExpression phenotype BEFREE Parameters including the operation time, blood loss, time of ESR and CRP decreasing to the normal level, time of abscess disappearance, time of bone graft fusion, rate of surgical complications, Visual Analog Scale (VAS) score, kyphosis angle and SF-36 scale were compared between two groups to evaluate their therapeutic effects. 31775707 2019
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.010 Biomarker disease BEFREE Here, we investigated associations of estrogen receptor 1 (ESR1) genetics and serum estradiol activities with aspects of alcohol dependence. 30677468 2019
CUI: C0002020
Disease: Alexithymia
Alexithymia
0.010 Biomarker phenotype BEFREE A statistical significant association was observed between alexithymia and inflammatory indices (ESR: P = .029, CRP: P = .043) and between alexithymia and clinimetric parameters (ptVAS, pVAS, GH, P < .0001 for all comparisons). 30681555 2019
CUI: C0002871
Disease: Anemia
Anemia
0.010 Biomarker disease BEFREE Reduction of CRP from 1.7 [0.4-3.2] to 0.11 [0.05-0.5] mg/dL (p < 0.0001), ESR from 33 [14.5-61] to 6 [2-12] mm/1st hour (p < 0.0001) and decrease in patients with anemia from 16.4% to 3.8% (p < 0.0001) were observed. 30655091 2019
CUI: C0003855
Disease: Arteriovenous fistula
Arteriovenous fistula
0.010 GeneticVariation phenotype BEFREE This article of the European Dialysis (EUDIAL) Working Group of ERA-EDTA critically reviews the current evidence on VA in elderly haemodialysis patients and concludes that a pragmatic patient-centred approach is mandatory, thus considering the possibility that the AVF first approach should not be an absolute. 30339192 2019
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.010 Biomarker disease BEFREE However, no difference of CRP (P = 0.219) or ESR (P = 0.320) between AAD patients and controls was observed, and no correlation of CRP (R = -0.150, P = 0.377) or ESR (R = 0.067, P = 0.692) with ascending aortic diameter in total BD patients was discovered either. 30101545 2019
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
0.010 AlteredExpression disease BEFREE <b>Rationale:</b> The relevance of hormones in idiopathic pulmonary fibrosis (IPF), a predominantly male lung disease, is unknown.<b>Objectives:</b> To determine whether the ER (estrogen receptor) facilitates the development of pulmonary fibrosis and is mediated in part through microRNA regulation of ERα and ERα-activated profibrotic pathways.<b>Methods:</b> ER expression in male lung tissue and myofibroblasts from control subjects (<i>n</i> = 6) and patients with IPF (<i>n</i> = 6), aging bleomycin (BLM)-treated mice (<i>n</i> = 7), and BLM-treated AF2ERKI mice (<i>n</i> = 7) was determined. 31291549 2019
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
0.010 GeneticVariation disease BEFREE Four genes related to the estrogen receptor pathway were significantly associated with intracranial aneurysms, 2 of which were downregulated (PIK3R1: fold change [FC] = 0.41, false discovery rate [FDR] = 6.1 × 10<sup>-5</sup>, ADCY9: FC = 0.55, FDR = 2.3 × 10<sup>-4</sup>) and 2 of which were upregulated (HBEGF: FC = 1.46, FDR = 4.9 × 10<sup>-4</sup>; ADCY7: FC = 2.11, FDR = 6.0 × 10<sup>-3</sup>). 30831289 2019
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.010 Biomarker disease BEFREE While MELTVRs morphologically resemble soft tissue myoepitheliomas and extraskeletal myxoid chondrosarcomas, they have a unique immunohistochemical profile (positive for epithelial membrane antigen and estrogen receptor, negative for S100 protein and glial fibrillary acidic protein, and loss of INI1/SMARCB1 expression), and lack EWSR1 and NR4A3 gene rearrangement, as seen by fluorescence in situ hybridization. 30737997 2019
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.010 AlteredExpression disease BEFREE At week 2, E2 administration to AOM/DSS-treated OVX mice attenuated the histological severity of colitis by decreasing the protein and/or mRNA levels of estrogen receptor alpha (ERα) and NF-κB-related mediators (i.e., COX-2, TNF-α, and IL-6) and by enhancing estrogen receptor beta (ERβ) and nuclear Nrf2 protein expression and the mRNA expression of related antioxidant enzyme genes (i.e., HO-1, GCLC, GCLM, and NQO1). 30981879 2019
CUI: C0011334
Disease: Dental caries
Dental caries
0.010 Biomarker disease BEFREE To evaluate whether genetic polymorphisms in the genes that codify the ERα (ESR1) and GHR are associated with caries experience and DDE in children. 30341791 2019
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
0.010 Biomarker disease BEFREE It has been previously reported that a restriction fragment length polymorphism in the gene encoding the vitamin D receptor (VDR) and the number of thymine-adenine (TA) repeats in the gene encoding the estrogen receptor alpha (ESR1) may each be associated with determinants of bone mineral density and may thus predict the development of osteoporosis across a number of non-FD populations. 28161223 2019
CUI: C0013537
Disease: Eclampsia
Eclampsia
0.010 GeneticVariation disease BEFREE This meta-analysis was performed in order to determine the associations between the estrogen receptor α (ESR1) gene PvuII site (-397T/C, rs2234693) and XbaI site (-351A/G, rs9340799) polymorphisms with severe and mild pre-eclampsia. 30630878 2019
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia
0.010 Biomarker disease BEFREE RA patients with FM had higher DAS28-ESR, CDAI, PGA, and VAS compared with those without FM. 31377829 2019
CUI: C0020175
Disease: Hunger
Hunger
0.010 Biomarker phenotype BEFREE Energy restriction during the Hunger Winter increased the estrogen receptor-negative BC risk regardless of the timing of energy restriction. 30252931 2019
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.010 Biomarker phenotype BEFREE To obtain a common and holistic view, the European Society of Intensive Care Medicine (ESICM), the European Society of Endocrinology (ESE) and the European Renal Association-European Dialysis and Transplant Association (ERA-EDTA), represented by European Renal Best Practice (ERBP), have developed clinical practice guidelines on the diagnostic approach and treatment of hyponatremia as a joint venture of 3societies representing specialists with a natural interest in hyponatremia. 28619670 2019