MLL/MLLT1 Fusion Gene

Preferred Label : MLL/MLLT1 Fusion Gene;

NCIt synonyms : MLL/ENL Fusion Gene; MLL-MLLT1 Fusion Gene; MLL-ENL Fusion Gene; KMT2A/MLLT1 Fusion Gene; KMT2A-MLLT1 Fusion Gene; KMT2A::MLLT1 Fusion Gene; MLL::MLLT1 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(11;19)(q23;p13.3) which fuses the 5' half of the MLL gene to most of the MLLT1 gene. This rearrangement is associated with acute lymphocytic leukemia and other leukemia types.;

NCIt note : The presence of this fusion gene is associated with a poor prognosis.;

Details

Origin ID

C99321;

UMLS CUI

C3274679;

Automatic exact mappings (from CISMeF team)
- Lysine-specific methyltransferase 2a [OMIM Phenotype]
- Mllt1 super elongation complex subunit [OMIM gene]
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]
- Pediatric Oncology Target Molecular Abnormalities Terminology [NCIt concept]
gene_encodes_gene_product
- MLL/MLLT1 Fusion Protein [NCIt concept]
gene_has_abnormality
- t(11;19)(q23.3;p13.3) [NCIt concept]
gene_involved_in_molecular_abnormality
- KMT2A-MLLT1 Fusion Protein Expression [NCIt concept]
- t(11;19)(q23.3;p13.3) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with a Variant KMT2A Rearrangement [NCIt concept]
gene_mapped_to_disease
- Acute Myeloid Leukemia with t(11;19)(q23.3;p13.3); KMT2A-MLLT1 [NCIt concept]
related_to_genetic_biomarker
- KMT2A Gene [NCIt concept]
- MLLT1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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