MLL/SEPT5 Fusion Gene

Preferred Label : MLL/SEPT5 Fusion Gene;

NCIt synonyms : MLL-hCDCRel Fusion Gene; PNUTL1/MLL Fusion Gene; MLL-SEPT5 Fusion Gene; MLL-PNUTL1 Fusion Gene; MLL/PNUTL1 Fusion Gene; MLL/hCDCRel Fusion Gene; SEPT5/MLL Fusion Gene; MLL::SEPT5 Fusion Gene; KMT2A::SEPTIN5 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(11;22)(q23;q11.2) which fuses exon 7 of the MLL gene to exon 3 of the SEPT5 gene. This rearrangement is associated with treatment-related acute myeloid leukemia.;

Details

Origin ID

C99333;

UMLS CUI

C1864496;

Automatic exact mappings (from CISMeF team)
- Lysine-specific methyltransferase 2a [OMIM Phenotype]
- Septin 5 [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]
gene_encodes_gene_product
- MLL/SEPT5 Fusion Protein [NCIt concept]
related_to_genetic_biomarker
- KMT2A Gene [NCIt concept]
- SEPTIN5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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