TRPM7/CYP19A1 Fusion Gene

Preferred Label : TRPM7/CYP19A1 Fusion Gene;

NCIt synonyms : TRPM7-CYP19A1 Fusion Gene; CYP19A1/TRPM7 Fusion Gene; TRPM7::CYP19A1 Fusion Gene;

NCIt definition : A fusion gene that results from a complex chromosomal rearrangement of the q arm of chromosome 15 where exon 1 of the TRPM7 gene is fused with exon 2 of the CYP19A1 gene. This fused gene causes increased expression of the CYP19A1 gene and is associated with aromatase excess syndrome.;

Details

Origin ID

C99700;

UMLS CUI

C3468043;

Automatic exact mappings (from CISMeF team)
- Cytochrome p450, family 19, subfamily a, polypeptide 1 [OMIM gene]
- Transient receptor potential cation channel, subfamily M, member 7 [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]
- TRPM7 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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