HMGA2/CCNB1IP1 Fusion Gene

Preferred Label : HMGA2/CCNB1IP1 Fusion Gene;

NCIt synonyms : HMGIC/HEI10 Fusion Gene; HEI10/HMGIC Fusion Gene; HMGA2-CCNB1IP1 Fusion Gene; HMGIC-HEI10 Fusion Gene; HMGA2::CCNB1IP1 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(12;14) which fuses exons 1 and 2 of the HMGA2 gene to the 3' portion of the CCNB1IP1 gene. This rearrangement is associated with uterine leiomyoma.;

PubMed : 11223542;

Details

Origin ID

C99426;

UMLS CUI

C1842352;

Automatic exact mappings (from CISMeF team)
- Cyclin b1 interacting protein 1 [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/CCNB1IP1 Fusion Protein [NCIt concept]
related_to_genetic_biomarker
- CCNB1IP1 Gene [NCIt concept]
- HMGA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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