FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Achondroplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia 		0.800 GeneticVariation UNIPROT FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation. 12297284 2002
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia 		0.800 GeneticVariation UNIPROT The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation. 10611230 2000
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia 		0.800 GeneticVariation UNIPROT Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. 8599935 1996
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia 		0.800 GeneticVariation UNIPROT A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. 7758520 1995
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia 		0.800 GeneticVariation UNIPROT Achondroplasia is defined by recurrent G380R mutations of FGFR3. 7847369 1995
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586 1994
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia 		C 0.800 CausalMutation CLINVAR