TMOD3/CYP19A1 Fusion Gene

Preferred Label : TMOD3/CYP19A1 Fusion Gene;

NCIt synonyms : TMOD3-CYP19A1 Fusion Gene; CYP19A1/TMOD3 Fusion Gene; TMOD3::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 TMOD3 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.;

Details

Origin ID

C99689;

UMLS CUI

C3468042;

Automatic exact mappings (from CISMeF team)
- Cytochrome p450, family 19, subfamily a, polypeptide 1 [OMIM gene]
- Tropomodulin 3 [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]
related_to_genetic_biomarker
- CYP19A1 Gene [NCIt concept]
- TMOD3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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