Activating ESR1 Gene Mutation

Preferred Label : Activating ESR1 Gene Mutation;

NCIt synonyms : Activating ESR1 Mutation; Activating ER Gene Mutation; Activating Estrogen Receptor Gene Mutation; ESR1 Gain of Function Mutation; ESR1 Activating Gene Mutation; Gain of Function ESR1 Mutation; Gain of Function ESR1 Gene Mutation; Activating Estrogen Receptor 1 Gene Mutation; ESR1 Activating Mutation; ESR1 Gain of Function Gene Mutation; Activating ESR Gene Mutation; Activating ERA Gene Mutation; Activating ESRA Gene Mutation; Activating NR3A1 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the ESR1 gene that that results in constitutive activation of estrogen receptor and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL1905422;

Details

Origin ID

C191958;

UMLS CUI

C5784796;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- ESR1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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