MLL/ARHGEF12 Fusion Gene

Preferred Label : MLL/ARHGEF12 Fusion Gene;

NCIt synonyms : MLL-LARG Fusion Gene; LARG/MLL Fusion Gene; MLL/LARG Fusion Gene; MLL-ARHGEF12 Fusion Gene; KMT2A::ARHGEF12 Fusion Gene; MLL::ARHGEF12 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal rearrangement which fuses the exon 6 of the MLL gene to most of the ARHGEF12 gene. This rearrangement may be associated with acute myeloid leukemia.;

NCIt note : This fusion gene is the result of a cryptic chromosomal aberration which most likely involves an interstitial deletion within 11q23.;

Details

Origin ID

C99345;

UMLS CUI

C1858155;

Automatic exact mappings (from CISMeF team)
- Lysine-specific methyltransferase 2a [OMIM Phenotype]
- Rho guanine nucleotide exchange factor 12 [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/ARHGEF12 Fusion Protein [NCIt concept]
related_to_genetic_biomarker
- ARHGEF12 Gene [NCIt concept]
- KMT2A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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