MLL/CBL Fusion Gene

Preferred Label : MLL/CBL Fusion Gene;

NCIt synonyms : MLL-CBL Fusion Gene; CBL/MLL Fusion Gene; MLL::CBL Fusion Gene; KMT2A::CBL Fusion Gene;

NCIt definition : A fusion gene that results from a rearrangement of the q arm of chromosome 11 which fuses the exon 6 of the MLL gene to exon 8 of the CBL gene. This rearrangement may be associated with acute myeloid leukemia and other leukemia types.;

NCIt note : This fusion gene could be the result of a translocation t(11;11)(q23;q23) or an interstitial deletion involving 11q23.;

PubMed : 12696071;

Details

Origin ID

C99343;

UMLS CUI

C1834586;

Automatic exact mappings (from CISMeF team)
- Cbl protooncogene [OMIM gene]
- Lysine-specific methyltransferase 2a [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- MLL/CBL Fusion Protein [NCIt concept]
related_to_genetic_biomarker
- CBL Gene [NCIt concept]
- KMT2A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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