Activating FGFR1 Gene Mutation

Preferred Label : Activating FGFR1 Gene Mutation;

NCIt synonyms : FGFR1 Gain of Function Mutation; Activating Fibroblast Growth Factor Receptor 1 Gene Mutation; FGFR1 Gain of Function Gene Mutation; Activating BFGFR Gene Mutation; Activating CD331 Gene Mutation; Activating FGFR-1 Gene Mutation; Activating FGFR1 Mutation; FGFR1 Activating Mutation; Activating KAL2 Gene Mutation; Activating FMS-Like Tyrosine Kinase 2 Gene Mutation; Activating CEK Gene Mutation; Activating OGD Gene Mutation; Activating FLT-2 Gene Mutation; Activating FGFBR Gene Mutation; Activating N-SAM Gene Mutation; Activating FLG Gene Mutation; Gain of Function FGFR1 Mutation; Activating FLT2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the FGFR1 gene that that results in constitutive activation of fibroblast growth factor 1 and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL977512;

Details

Origin ID

C164197;

UMLS CUI

C5236051;

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
- FGFR1 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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