CGNL1/CYP19A1 Fusion Gene

Preferred Label : CGNL1/CYP19A1 Fusion Gene;

NCIt synonyms : CGNL1-CYP19A1 Fusion Gene; CGNL1::CYP19A1 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal inversion within 15q21.2-q21.3 and places the promoter for the CGNL1 gene near the 5' end of the CYP19A1 gene. This fused gene causes increased expression of the CYP19A1 gene and is associated with aromatase excess syndrome.;

NCI Metathesaurus CUI : CL433541;

Details

Origin ID

C99826;

UMLS CUI

C1538448;

Automatic exact mappings (from CISMeF team)
- Cingulin-like 1 [OMIM gene]
- Cytochrome p450, family 19, subfamily a, polypeptide 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Cingulin-like 1 [OMIM gene]
- cingulin like 1 [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
- CGNL1 Gene [NCIt concept]
- CYP19A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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