HMGA2/RAD51B Fusion Gene

Preferred Label : HMGA2/RAD51B Fusion Gene;

NCIt synonyms : HMGIC/RAD51L1 Fusion Gene; HMGIC-RAD51L1 Fusion Gene; HMGA2/RAD51L1 Fusion Gene; HMGA2-RAD51L1 Fusion Gene; HMGA2-RAD51B Fusion Gene; HMGA2::RAD51B Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(12;14)(q15;q22-24) which fuses exons 1-3 of the HMGA2 gene to the 3' portion of the RAD51B gene. This rearrangement is associated with uterine leiomyoma.;

NCIt note : The HMGA2/RAD51B fusion gene has several variants that differ in the number of RAD51B exons.;

PubMed : 9892177;

Details

Origin ID

C99424;

UMLS CUI

C1864332;

Automatic exact mappings (from CISMeF team)
- High mobility group at-hook 2 [OMIM gene]
- Rad51 paralog b [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/RAD51B Fusion Protein [NCIt concept]
related_to_genetic_biomarker
- HMGA2 Gene [NCIt concept]
- RAD51B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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