FGFR4 Gene Mutation

Preferred Label : FGFR4 Gene Mutation;

NCIt synonyms : FGFR-4 Gene Mutation; TKF Gene Mutation; JTK2 Gene Mutation; Fibroblast Growth Factor Receptor 4 Gene Mutation; CD334 Gene Mutation;

NCIt related terms : FGFR4 mutation;

NCIt definition : Mutation of the fibroblast growth factor receptor 4 gene which is located on the long arm of chromosome 5. It has been described in patients with childhood rhabdomyosarcoma. Overexpression of this gene in these patients is associated with advanced stage disease and poor survival.;

Details

Origin ID

C84092;

UMLS CUI

C2827310;

Automatic exact mappings (from CISMeF team)
- Mutations [LOINC Class]
Molecular abnormality of diseases
- Childhood Alveolar Rhabdomyosarcoma [NCIt concept]
- Childhood Botryoid-Type Embryonal Rhabdomyosarcoma [NCIt concept]
- Childhood Embryonal Rhabdomyosarcoma [NCIt concept]
- Childhood Pleomorphic Rhabdomyosarcoma [NCIt concept]
- Childhood Rhabdomyosarcoma [NCIt concept]
- Childhood Rhabdomyosarcoma by Toronto Guidelines v2 Stage [NCIt concept]
- Childhood Rhabdomyosarcoma by Toronto Guidelines v2 Stage, Tier 1 [NCIt concept]
- Childhood Rhabdomyosarcoma by Toronto Guidelines v2 Stage, Tier 2 [NCIt concept]
- Childhood Rhabdomyosarcoma with Mixed Embryonal and Alveolar Features [NCIt concept]
- Childhood Spindle Cell Rhabdomyosarcoma [NCIt concept]
- Childhood Vaginal Botryoid-Type Embryonal Rhabdomyosarcoma [NCIt concept]
- Childhood Vulvar Botryoid-Type Embryonal Rhabdomyosarcoma [NCIt concept]
- Localized Childhood Rhabdomyosarcoma [NCIt concept]
- Localized Childhood Rhabdomyosarcoma by Toronto Guidelines v2 [NCIt concept]
- Metastatic Childhood Rhabdomyosarcoma by Toronto Guidelines v2 [NCIt concept]
- Recurrent Childhood Rhabdomyosarcoma [NCIt concept]
- Refractory Childhood Rhabdomyosarcoma [NCIt concept]
- Stage I Childhood Rhabdomyosarcoma by Toronto Guidelines v2 [NCIt concept]
- Stage II Childhood Rhabdomyosarcoma by Toronto Guidelines v2 [NCIt concept]
- Stage III Childhood Rhabdomyosarcoma by Toronto Guidelines v2 [NCIt concept]
- Stage IV Childhood Rhabdomyosarcoma by Toronto Guidelines v2 [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- FGFR4 Gene [NCIt concept]
- Fibroblast Growth Factor Receptor Family Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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