FGFR3 Gene - CISMeF

Preferred Label : FGFR3 Gene;

NCIt synonyms : FGFR3; Fibroblast Growth Factor Receptor 3 Gene;

CISMeF acronym : FGFR3;

NCIt definition : This gene plays a role in bone development and maintenance and mutations in the gene are associated with craniosynostosis and several types of skeletal dysplasia.;

Details

Origin ID

C24393;

UMLS CUI

C1333543;

Automatic exact mappings (from CISMeF team)
- Fibroblast growth factor receptor 3 [OMIM gene]
- fibroblast growth factor receptor 3 [ORDO Gene]
Currated CISMeF NLP mapping
- FGFR3 gene [LOINC component]
HGNC gene
- fibroblast growth factor receptor 3 [HGNC gene]
OMIM relation
- Fibroblast growth factor receptor 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- FGFR3 gene [LOINC component]
- Fibroblast growth factor receptor 3 [OMIM gene]
- fibroblast growth factor receptor 3 [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
- Acanthosis Nigricans [NCIt concept]
- Achondroplasia [NCIt concept]
gene_encodes_gene_product
- Fibroblast Growth Factor Receptor 3 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Activating FGFR3 Gene Mutation [NCIt concept]
- FGFR3 Gene Amplification [NCIt concept]
- FGFR3 Gene Mutation [NCIt concept]
- FGFR3 Gene Rearrangement [NCIt concept]
- FGFR3 Gene Translocation [NCIt concept]
- FGFR3 NM_000142.4:c.1108G>T [NCIt concept]
- FGFR3 NM_000142.4:c.1111A>T [NCIt concept]
- FGFR3 NM_000142.4:c.1118A>G [NCIt concept]
- FGFR3 NM_000142.4:c.1138G>A [NCIt concept]
- FGFR3 NM_000142.4:c.1138G>C [NCIt concept]
- FGFR3 NM_000142.4:c.1948A>G [NCIt concept]
- FGFR3 NM_000142.4:c.742C>T [NCIt concept]
- FGFR3 NM_000142.4:c.746C>G [NCIt concept]
- FGFR3 NP_000133.1:p.G370C [NCIt concept]
- FGFR3 NP_000133.1:p.G380R [NCIt concept]
- FGFR3 NP_000133.1:p.K650E [NCIt concept]
- FGFR3 NP_000133.1:p.R248C [NCIt concept]
- FGFR3 NP_000133.1:p.S249C [NCIt concept]
- FGFR3 NP_000133.1:p.S371C [NCIt concept]
- FGFR3 NP_000133.1:p.Y373C [NCIt concept]
- FGFR3 Protein Variant [NCIt concept]
gene_mapped_to_disease
- Achondroplasia [NCIt concept]
- FGFR3 Chondrodysplasia [NCIt concept]
- Muenke Syndrome [NCIt concept]
- Thanatophoric Dysplasia [NCIt concept]
- Type 1 Thanatophoric Dysplasia [NCIt concept]
- Type 2 Thanatophoric Dysplasia [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Skeletal Development [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]
genetic_biomarker_related_to
- FGFR2 Gene and FGFR3 Gene Variants Found [Identifier] in Blood or Tissue by Molecular Genetics Method Nominal [NCIt concept]
- FGFR3 Gene Alteration Positive [NCIt concept]
- FGFR3 Gene Fusion Positive [NCIt concept]
- FGFR3 Gene Mutation Negative [NCIt concept]
- FGFR3 Gene Rearrangement Negative [NCIt concept]
- FGFR3 Mutation Analysis [NCIt concept]
- FGFR3 Overexpression Positive [NCIt concept]
- FGFR3 Rearrangement Analysis [NCIt concept]
- FGFR3/BAIAP2L1 Fusion Gene [NCIt concept]
- FGFR3/BAIAP2L1 Fusion Protein [NCIt concept]
- FGFR3/IGH Fusion Gene [NCIt concept]
- FGFR3/TACC3 Fusion Gene [NCIt concept]
- FGFR3/TACC3 Fusion Protein [NCIt concept]
- FGFR3/TACC3v1 Fusion Gene [NCIt concept]
- FGFR3/TACC3v3 Fusion Gene [NCIt concept]
- Hypochondroplasia [NCIt concept]
- t(4;14)(p16;q32)(FGFR3/IGH) Fusion Transcript [Identifier] in Blood or Tissue by FISH Nominal [NCIt concept]

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