HMGA2/COX6C Fusion Gene

Preferred Label : HMGA2/COX6C Fusion Gene;

NCIt synonyms : HMGIC-COX6C Fusion Gene; HMGA2-COX6C Fusion Gene; HMGIC/COX6C Fusion Gene; HMGA2::COX6C Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(8;12) which fuses the first three exons of the HMGA2 gene with exon 2 of the COX6C gene. This fusion is associated with uterine leiomyoma.;

NCI Metathesaurus CUI : CL433122;

Details

Origin ID

C99430;

UMLS CUI

C1852321;

Automatic exact mappings (from CISMeF team)
- Cytochrome C oxidase, subunit 6c [OMIM gene]
- High mobility group at-hook 2 [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
- HMGA2/COX6C Fusion Protein [NCIt concept]
related_to_genetic_biomarker
- COX6C Gene [NCIt concept]
- HMGA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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