FGFR1 Gene - CISMeF

Preferred Label : FGFR1 Gene;

NCIt synonyms : Fibroblast Growth Factor Receptor 1 (FMS-Related Tyrosine Kinase 2, Pfeiffer Syndrome) Gene; FGFR1;

CISMeF acronym : FGFR1;

NCIt definition : This gene plays a role in mitogenesis and differentiation.;

Details

Origin ID

C19929;

UMLS CUI

C0919509;

Automatic exact mappings (from CISMeF team)
- FGFR1 gene [LOINC component]
- FGFR1 gene mutation analysis [OBSOLETE LOINC component]
- Fibroblast growth factor receptor 1 [OMIM gene]
- fibroblast growth factor receptor 1 [ORDO Gene]
HGNC gene
- fibroblast growth factor receptor 1 [HGNC gene]
OMIM relation
- Fibroblast growth factor receptor 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- FGFR1 gene [LOINC component]
- Fibroblast growth factor receptor 1 [OMIM gene]
- fibroblast growth factor receptor 1 [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_associated_with_disease
- Klinefelter Syndrome [NCIt concept]
gene_encodes_gene_product
- Fibroblast Growth Factor Receptor 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- FGFR1 Gene Amplification [NCIt concept]
gene_involved_in_molecular_abnormality
- Activating FGFR1 Gene Mutation [NCIt concept]
- BCR-FGFR1 Fusion Protein Expression [NCIt concept]
- FGFR1 Gene Amplification [NCIt concept]
- FGFR1 Gene Mutation [NCIt concept]
- FGFR1 Gene Rearrangement [NCIt concept]
- FGFR1 Gene Translocation [NCIt concept]
- FGFR1 NM_023110.2:c.1966A>G [NCIt concept]
- FGFR1 NP_075598.2:p.K656E [NCIt concept]
- FGFR1 Protein Variant [NCIt concept]
- FGFR1/TACC1 Fusion Protein Expression [NCIt concept]
- t(8;22)(p11;q11) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement [NCIt concept]
gene_mapped_to_disease
- Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Myeloproliferation [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]
genetic_biomarker_related_to
- BCR/FGFR1 Fusion Gene [NCIt concept]
- BCR/FGFR1 Fusion Protein [NCIt concept]
- CNTRL/FGFR1 Fusion Gene [NCIt concept]
- CNTRL/FGFR1 Fusion Protein [NCIt concept]
- Cells with FGFR1 Gene Rearrangements/Cells Counted in Blood or Tissue by FISH [NCIt concept]
- FGFR1 Gene Alteration Positive [NCIt concept]
- FGFR1 Gene Fusion Positive [NCIt concept]
- FGFR1 Gene Mutation Negative [NCIt concept]
- FGFR1 Gene Rearrangement Negative [NCIt concept]
- FGFR1 Gene Rearrangements [Interpretation] in Blood or Tissue by FISH Narrative [NCIt concept]
- FGFR1 Mutation Analysis [NCIt concept]
- FGFR1 Overexpression Positive [NCIt concept]
- FGFR1 Positive [NCIt concept]
- FGFR1 Rearrangement Analysis [NCIt concept]
- FGFR1/CEP8 Copy Number Ratio Finding [NCIt concept]
- FGFR1/Chromosome 8 Copy Number Ratio Finding [NCIt concept]
- FGFR1/FGFR1OP Fusion Gene [NCIt concept]
- FGFR1/TACC1 Fusion Gene [NCIt concept]
- FGFR1/TACC1 Fusion Protein [NCIt concept]
- FGFR1/ZMYM2 Fusion Gene [NCIt concept]
- FGFR1OP/FGFR1 Fusion Gene [NCIt concept]
- FGFR1OP/FGFR1 Fusion Protein [NCIt concept]
- FGFR1OP2/FGFR1 Fusion Gene [NCIt concept]
- FGFR1OP2/FGFR1 Fusion Protein [NCIt concept]
- FN1/FGFR1 Fusion Gene [NCIt concept]
- FN1/FGFR1 Fusion Protein [NCIt concept]
- Type V Acrocephalosyndactyly [NCIt concept]
- ZMYM2/FGFR1 Fusion Gene [NCIt concept]
- ZMYM2/FGFR1 Fusion Protein [NCIt concept]

Keyword's position in hierarchy(ies) :

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