Germline RUNX1 Gene Mutation

Preferred Label : Germline RUNX1 Gene Mutation;

NCIt synonyms : Germline Acute Myeloid Leukemia 1 Gene Mutation; Germline CBFalpha2 Mutation; Germline Runt-Related Transcription Factor 1 Gene Mutation; Germline AML1 Gene Mutation; Germline AMLCR1 Gene Mutation; Germline CBFA2 Gene Mutation;

NCIt related terms : Germline RUNX1 variant;

NCIt definition : A change in the nucleotide sequence of the RUNX1 gene that originates in the gametes.;

NCI Metathesaurus CUI : CL1907431;

Details

Origin ID

C200428;

UMLS CUI

C5856233;

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]
is_molecular_abnormality_of_disease
- Hematologic Neoplasm with Germline RUNX1 Mutation [NCIt concept]
molecular_abnormality_involves_gene
- RUNX1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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