rs75790268, FGFR3

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.850 GeneticVariation BEFREE Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism. 22529939 2012
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.850 GeneticVariation UNIPROT FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation. 12297284 2002
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.850 GeneticVariation BEFREE We examined the G380R mutation (G > A and G > C transition) and the mutation G375C (G > T transition at codon 375) in 31 sporadic patients and in one family diagnosed clinically to have achondroplasia. 10979354 2000
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.850 GeneticVariation UNIPROT The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation. 10611230 2000
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.850 GeneticVariation BEFREE Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 causes ligand-independent dimerization and phosphorylation of FGFR3 and that the equivalent substitution at position 369 (Gly369Cys) in mouse FGFR3 causes dwarfism with features mimicking human achondroplasia. 10587515 1999
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.850 GeneticVariation BEFREE Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells. 9199352 1997
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.850 GeneticVariation UNIPROT Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. 8599935 1996
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.850 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
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.850 GeneticVariation BEFREE We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C). 7758520 1995
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.850 GeneticVariation UNIPROT Achondroplasia is defined by recurrent G380R mutations of FGFR3. 7847369 1995
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.850 GeneticVariation UNIPROT Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586 1994
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.850 CausalMutation CLINVAR
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.020 GeneticVariation BEFREE Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism. 22529939 2012
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.020 GeneticVariation BEFREE Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 causes ligand-independent dimerization and phosphorylation of FGFR3 and that the equivalent substitution at position 369 (Gly369Cys) in mouse FGFR3 causes dwarfism with features mimicking human achondroplasia. 10587515 1999