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ESR1 - estrogen receptor 1
- Synonym(s) : E2 receptor alpha, Era, ER-alpha, estrogen receptor alpha, NR3A1, nuclear receptor subfamily 3 group A member 1, oestrogen receptor alpha
- Previous symbols and names : ESR
- Type : gene with protein product
- Chromosomal location : 6q25.1-q25.2
- OMIM: 133430
- HGNC: 3467
- UniProtKB: P03372
- Genatlas: ESR1
- Ensembl: ENSG00000091831
- IUPHAR-DB: 620
- Reactome: P03372
- LOVD: ESR1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Estrogen resistance syndrome
ORPHA:785

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