PAX7-FOXO1 Fusion Protein Expression

Preferred Label : PAX7-FOXO1 Fusion Protein Expression;

NCIt synonyms : PAX7-FKHR Fusion Protein Expression; PAX7/FKHR Fusion Protein Expression; PAX7/FOXO1 Fusion Protein Expression;

NCIt definition : A molecular abnormality characterized by the expression of a fusion protein that results from chromosomal recombination involving the human genes PAX7 and FOXO1. This abnormal protein is associated with alveolar rhabdomyosarcoma and rare cases of embryonal rhabdomyosarcoma.;

Details

Origin ID

C37240;

UMLS CUI

C1518778;

Molecular abnormality of diseases
- Fusion-Positive Alveolar Rhabdomyosarcoma [NCIt concept]
- Fusion-Positive Rhabdomyosarcoma [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_not_molecular_abnormality_of_disease
- Fusion-Negative Alveolar Rhabdomyosarcoma [NCIt concept]
- Fusion-Negative Rhabdomyosarcoma [NCIt concept]
molecular_abnormality_involves_gene
- FOXO1 Gene [NCIt concept]
- PAX7 Gene [NCIt concept]
- PAX7/FOXO1 Fusion Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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