Estrogen receptor 1

Preferred Label : Estrogen receptor 1;

Symbol : ESR1;

CISMeF acronym : ER; ESRA; ESR; ESR1;

Type : Gene;

Alternative titles and symbols : Estrogen receptor; Estrogen receptor, alpha; ESR; ER; ESRA;

Description : The estrogen receptor (ESR) is a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. Alternative splicing results in several ESR1 mRNA transcripts, which differ primarily in their 5-prime untranslated regions. The translated receptors show less variability (Kos et al., 2001; Flouriot et al., 2000).;

Ensembl ID : ENSG00000091831;

Prefixed ID : *133430;

Details

Origin ID

133430;

UMLS CUI

C1414461;

Automatic exact mappings (from CISMeF team)
- Adverse Event Emergency Room Visit [NCIt concept]
- EREG wt Allele [NCIt concept]
- ESR1 Gene [NCIt concept]
- ESR1 wt Allele [NCIt concept]
- Electron Spin Resonance Spectroscopy [NCIt concept]
- Endoplasmic Reticulum [NCIt concept]
- Endoplasmic reticulum (cell structure) [SNOMED CT concept]
- Environmental and Social Factors Domain [NCIt concept]
- Erbium [NCIt concept]
- Erythrocyte Sedimentation Rate Measurement [NCIt concept]
- Estrogen Receptor Measurement [NCIt concept]
- Estrogen Receptor Status [NCIt concept]
- European society of radiology [Concept TMR]
- Extended Release Dosage Form [NCIt concept]
- endoplasmic reticulum [GO term]
- estrogen receptor 1 [HGNC gene]
Currated CISMeF NLP mapping
- estrogen receptor 1 [ORDO Gene]
False automatic mappings
- Eritrea [NCIt concept]
HGNC gene
- estrogen receptor 1 [HGNC gene]
Matching ORDO disease(s)
- Estrogen resistance syndrome [ORDO Disease]
NCIt concept(s)
- ESR1 Gene [NCIt concept]
- ESR1 wt Allele [NCIt concept]
- Estrogen Receptor [NCIt concept]
ORDO concept(s)
- estrogen receptor 1 [ORDO Gene]
Phenotypes related
- Breast cancer [OMIM Phenotype]
- Estrogen resistance [OMIM Phenotype]
- Migraine with or without aura, susceptibility to, 1 [OMIM Phenotype]
- Myocardial infarction, susceptibility to [OMIM Phenotype]
See also inter- (CISMeF)
- Estrogen Receptor [NCIt concept]
- Estrogen Receptor Family [NCIt concept]
- Estrogen Receptor Positive [NCIt concept]
- Estrogen receptor [LOINC component]
- Estrogen receptor (substance) [SNOMED CT concept]
- estrogen receptor 1 [MeSH concept]
- estrogen receptor alpha [MeSH Descriptor]
- estrogen receptor alpha [MeSH concept]
- receptors, estrogen [MeSH Descriptor]
- receptors, estrogen [MeSH concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ESR1 Gene [NCIt concept]
- estrogen receptor 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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