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: C0270858
Disease: Abdominal Migraine
Abdominal Migraine
0.300 Biomarker disease CTD_human The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups. 15133719 2004
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: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.030 Biomarker phenotype BEFREE The estrogen receptor alpha (ERalpha) gene in particular has been a subject of interest and has recently been intensively screened for variations of potential relevance to psychiatric disorders, resulting in the identification of four mutations in individuals with bipolar disorder or puerperal psychosis. 12627470 2003
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.030 GeneticVariation phenotype BEFREE The first common ESR1 variant (MAF 12-33% across races) linked to regulatory functions, rs2144025 appears conditionally to affect ESR1 mRNA expression in the brain and modulate traits in behavioral disorders. 28617822 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.030 Biomarker phenotype BEFREE Translational Significance of Selective Estrogen Receptor Modulators in Psychiatric Disorders. 30402099 2018
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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.010 Biomarker disease BEFREE However, the absence of clinical history of hormone exposure, predominance of smooth muscle with lack of ovarian-like stroma, prominence of epithelial nodules, and typical absence of estrogen receptor labeling suggest that it may represent a distinct entity. 25911262 2015
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development
0.100 Biomarker phenotype HPO
Absence of secondary sex characteristics
0.100 Biomarker phenotype HPO
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.100 Biomarker disease HPO
CUI: C0702166
Disease: Acne
Acne
0.100 Biomarker disease HPO
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma
0.010 AlteredExpression disease BEFREE The aim of this study was to examine the expression of androgen, progesterone, glucocorticoid and estrogen receptor messenger ribonucleic acid levels (mRNA) in twenty-one vestibular schwannomas by either Northern blot analysis or the polymerase chain reaction (PCR). 9143583 1997
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents
0.010 GeneticVariation disease BEFREE A study of ERα PvuII polymorphism in female patients with acute stroke: no associations with disease severity and early outcome. 23763623 2013
CUI: C0521664
Disease: Acute Confusional Migraine
Acute Confusional Migraine
0.300 Biomarker disease CTD_human The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups. 15133719 2004
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
0.300 Biomarker disease CTD_human Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. 17192785 2007
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.010 AlteredExpression disease BEFREE PAX2 (paired box 2) transcription factor is expressed by breast cancer cells in vivo and recently, it was shown to negatively regulate the expression of ERBB2 (erythroblastic leukemia viral oncogene homolog 2, HER-2/neu), a well-documented pro-invasive and pro-metastastic gene, in luminal/ERalpha-positive (ERα+) breast cancer cells. 22168360 2011
CUI: C0275518
Disease: Acute infectious disease
Acute infectious disease
0.010 Biomarker group BEFREE The ESR (median 70 vs. 40 mm/h, P = 0.000) and CRP (median 214 vs. 114 mg/dL, P < 0.0001) were found to be increased in ID-associated thrombocytosis patients, similarly for each ID. 30795883 2019
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 Biomarker disease BEFREE (ii) A second region of 6q, which was distal to 6q23.1 (D6S238) and included ESR (6q25.1) and D6S281 (6q27), which was shown to be present in all our cases of ALL, was found to be deleted in 4 of the 7 cases of NHL. 7522544 1994
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.010 PosttranslationalModification disease BEFREE Estrogen receptor methylation (ERM) is a frequent molecular alteration in adult acute myeloid leukemia (AML). 10353741 1999
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
0.010 GeneticVariation disease BEFREE The risk of experiencing TS was higher for those study participants carrying the T allele at the rs2234693 locus of the ESR1 gene [OR: 2.0, 95% confidence interval (CI): 0.973-4.11, P = 0.04, TS vs. MI + CTRL; OR: 2.79, 95% CI: 1.17-6.64, P = 0.016, TS vs. MI alone]. 28118181 2017
CUI: C4728019
Disease: Acute on chronic hepatitis B
Acute on chronic hepatitis B
0.010 PosttranslationalModification disease BEFREE Methylation status of the estrogen receptor 1 promoter predicts poor prognosis of acute-on-chronic hepatitis B liver failure. 29082740 2017
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.010 Biomarker disease BEFREE ER-α agonist propyl-pyrazole-triol (PPT; 1 mg/kg/day), ER-β agonist diarylpropionitrile (DPN; 1 mg/kg/day) and 17β-estradiol (10 mg/kg/day) were administered to the groups for 3 days following AP induction. 29550797 2017
CUI: C0520575
Disease: Acute pyelonephritis
Acute pyelonephritis
0.010 Biomarker disease BEFREE WBC, CRP, ESR and DNI were higher in APN than in lower UTI (p < 0.01). 28169298 2017
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
0.010 GeneticVariation phenotype BEFREE Expression of the K303R estrogen receptor-alpha breast cancer mutation induces resistance to an aromatase inhibitor via addiction to the PI3K/Akt kinase pathway. 19487288 2009
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE Compared to age-matched postmenopausal controls, the ER-alpha/beta ratio was reduced in both grade I adenocarcinoma and MMMT specimens (3.3 and 6.8, respectively), due to a selective loss of ER-alpha. 11687977 2001