CCND1/PTH Fusion Gene

Preferred Label : CCND1/PTH Fusion Gene;

NCIt synonyms : CCND1-PTH Fusion Gene; CCND1::PTH Fusion Gene;

NCIt definition : A fusion gene that results from a rearrangement of chromosome 11 which places the CCND1 gene on the 5' side of the PTH gene. This rearrangement is associated with parathyroid adenomatosis.;

NCIt note : This translocation allows the expression of the CCND1 gene to be controlled by PTH gene promoter, which causes overexpression of the G1/S-specific cyclin-D1 protein.;

NCI Metathesaurus CUI : CL433156;

Details

Origin ID

C99368;

UMLS CUI

C1413172;

Automatic exact mappings (from CISMeF team)
- Cyclin d1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CCND1 gene [LOINC component]
- Cyclin d1 [OMIM gene]
- cyclin D1 [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
related_to_genetic_biomarker
- CCND1 Gene [NCIt concept]
- PTH Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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