ASXL1 Gene Mutation

Preferred Label : ASXL1 Gene Mutation;

NCIt synonyms : Additional Sex Combs Like 1 Gene Mutation; ASXL Transcriptional Regulator 1 Gene Mutation; Additional Sex Combs Like 1, Transcriptional Regulator 1 Gene Mutation;

NCIt definition : A molecular genetic abnormality that refers to the presence of a mutation in the ASXL1 gene.;

Details

Origin ID

C97313;

UMLS CUI

C3273353;

Automatic exact mappings (from CISMeF team)
- ASXL1 gene mutation [MedDRA Preferred Term]
Molecular abnormality of diseases
- Chronic Neutrophilic Leukemia [NCIt concept]
- Clonal Hematopoiesis of Indeterminate Potential [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- ASXL1 gene mutation [MedDRA Preferred Term]
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
- Acute Myeloid Leukemia with ASXL1 Mutation [NCIt concept]
molecular_abnormality_involves_gene
- ASXL1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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