EZH2 Gene Mutation

Preferred Label : EZH2 Gene Mutation;

NCIt synonyms : ENX1 Gene Mutation; EZH2b Gene Mutation; ENX-1 Gene Mutation; Enhancer of Zeste 2 Gene Mutation; KMT6A Gene Mutation; Enhancer of Zeste 2 Polycomb Repressive Complex 2 Subunit Gene Mutation; KMT6 Gene Mutation;

NCIt definition : A molecular genetic abnormality that refers to the presence of a mutation in the histone methyltransferase gene EZH2.;

Details

Origin ID

C97311;

UMLS CUI

C3273351;

Automatic exact mappings (from CISMeF team)
- EZH2 gene mutation [MedDRA Preferred Term]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- EZH2 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 EZH2 Mutation [NCIt concept]
- EZB Diffuse Large B-Cell Lymphoma [NCIt concept]
molecular_abnormality_involves_gene
- EZH2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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