FGFR2 Gene - CISMeF

Preferred Label : FGFR2 Gene;

NCIt synonyms : Fibroblast Growth Factor Receptor 2 Gene;

NCIt related terms : FGFR2;

CISMeF acronym : FGFR2;

NCIt definition : This gene plays a role in mitogenesis and differentiation and mutations in the gene are associated with craniosynostotic syndromes and bone malformations.;

Details

Origin ID

C19931;

UMLS CUI

C1333542;

HGNC gene
- fibroblast growth factor receptor 2 [HGNC gene]
OMIM relation
- Fibroblast growth factor receptor 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- FGFR2 gene [LOINC component]
- Fibroblast growth factor receptor 2 [OMIM gene]
- fibroblast growth factor receptor 2 [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
- Acrocephalosyndactyly [NCIt concept]
gene_encodes_gene_product
- FGFR2 Gene Product [NCIt concept]
- Fibroblast Growth Factor Receptor 2 [NCIt concept]
- Fibroblast Growth Factor Receptor 2 Isoform IIIb [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- FGFR2 Gene Amplification [NCIt concept]
gene_involved_in_molecular_abnormality
- Activating FGFR2 Gene Mutation [NCIt concept]
- FGFR2 Gene Amplification [NCIt concept]
- FGFR2 Gene Mutation [NCIt concept]
- FGFR2 Gene Rearrangement [NCIt concept]
- FGFR2 Gene Translocation [NCIt concept]
- FGFR2 NM_000141.4:c.1115C>G [NCIt concept]
- FGFR2 NM_000141.4:c.1124A>G [NCIt concept]
- FGFR2 NM_000141.4:c.1144T>C [NCIt concept]
- FGFR2 NM_000141.4:c.1645A>C [NCIt concept]
- FGFR2 NM_000141.4:c.1647T>A [NCIt concept]
- FGFR2 NM_000141.4:c.1647T>G [NCIt concept]
- FGFR2 NM_000141.4:c.1975A>G [NCIt concept]
- FGFR2 NM_000141.4:c.755C>G [NCIt concept]
- FGFR2 NM_000141.4:c.758C>G [NCIt concept]
- FGFR2 NP_000132.3:p.C382R [NCIt concept]
- FGFR2 NP_000132.3:p.K659E [NCIt concept]
- FGFR2 NP_000132.3:p.N549H [NCIt concept]
- FGFR2 NP_000132.3:p.N549K [NCIt concept]
- FGFR2 NP_000132.3:p.P253R [NCIt concept]
- FGFR2 NP_000132.3:p.S252W [NCIt concept]
- FGFR2 NP_000132.3:p.S372C [NCIt concept]
- FGFR2 NP_000132.3:p.V679F [NCIt concept]
- FGFR2 NP_000132.3:p.Y375C [NCIt concept]
- FGFR2 Protein Variant [NCIt concept]
gene_mapped_to_disease
- Beare-Stevenson Cutis Gyrata Syndrome [NCIt concept]
- Craniofacial Dysostosis [NCIt concept]
- Jackson-Weiss Syndrome [NCIt concept]
- Type I Acrocephalosyndactyly [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Epithelial Cell Proliferation [NCIt concept]
- Ligand Binding [NCIt concept]
- Organogenesis [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]
genetic_biomarker_related_to
- FGFR1 Gene Rearrangements [Presence] in Blood or Tissue by FISH [NCIt concept]
- FGFR2 Fusion Positive [NCIt concept]
- FGFR2 Gene Alteration Positive [NCIt concept]
- FGFR2 Gene Fusion Positive [NCIt concept]
- FGFR2 Gene Mutation Negative [NCIt concept]
- FGFR2 Gene Rearrangement Negative [NCIt concept]
- FGFR2 Gene Rearrangements in Tissue by FISH [NCIt concept]
- FGFR2 Gene and FGFR3 Gene Variants Found [Identifier] in Blood or Tissue by Molecular Genetics Method Nominal [NCIt concept]
- FGFR2 Mutation Analysis [NCIt concept]
- FGFR2 Overexpression Positive [NCIt concept]
- FGFR2 Positive [NCIt concept]
- FGFR2 Rearrangement Analysis [NCIt concept]
- FGFR2/BICC1 Fusion Gene [NCIt concept]
- FGFR2/BICC1 Fusion Protein [NCIt concept]
- FGFR2/CASP7 Fusion Gene [NCIt concept]
- FGFR2/CASP7 Fusion Protein [NCIt concept]
- FGFR2B Overexpression [NCIt concept]
- FGFR2IIIb Positive [NCIt concept]
- Type V Acrocephalosyndactyly [NCIt concept]

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