Terminology Service for NFDI4Health
FGFR2 Gene
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http://purl.obolibrary.org/obo/NCIT_C19931
This gene plays a role in mitogenesis and differentiation and mutations in the gene are associated with craniosynostotic syndromes and bone malformations. [ ]
Term info
Label
FGFR2 Gene
Synonyms
- FGFR2
- FGFR2 Gene
- Fibroblast Growth Factor Receptor 2 Gene
Subsets
NCIT_C116977, NCIT_C142801, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
Display Name
FGFR2 Gene
HGNC ID
HGNC:3689
Legacy Concept Name
FGFR2_Gene
Maps To
FGFR2
OMIM Number
176943
Preferred Name
FGFR2 Gene
Semantic Type
Gene or Genome
UMLS CUI
C1333542
code
C19931
Term relations
Subclass of:
- Fibroblast Growth Factor Receptor Family Gene
- Gene_Plays_Role_In_Process some Tyrosine Phosphorylation
- Gene_Associated_With_Disease some Acrocephalosyndactyly
- Gene_Plays_Role_In_Process some Ligand Binding
- Gene_Plays_Role_In_Process some Receptor Signaling
- Gene_Has_Abnormality some FGFR2 Gene Amplification
- Gene_Plays_Role_In_Process some Organogenesis
- Gene_Plays_Role_In_Process some Epithelial Cell Proliferation
Related from: