GATA1 Exon 2 Mutation

Preferred Label : GATA1 Exon 2 Mutation;

NCIt synonyms : GATA-1 Exon 2 Mutation; GF1 Exon 2 Mutation; GATA Binding Protein 1 Gene Exon 2 Mutation; ERYF1 Exon 2 Mutation; NF-E1 Exon 2 Mutation; GF-1 Exon 2 Mutation; NFE1 Exon 2 Mutation;

NCIt definition : A molecular genetic abnormality indicating the presence of a mutation in exon 2 of the GATA1 gene.;

NCI Metathesaurus CUI : CL520457;

Details

Origin ID

C132233;

UMLS CUI

C4330024;

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
- GATA1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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