Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CTD_human

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation BEFREE In contrast, only FGFR3 mutations have been reported in dwarfing conditions--achondroplasia, thanatophoric dysplasia, and hypochondroplasia. 7493034

1995

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778

1995

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation BEFREE We have examined the transmembrane domain of the FGFR-3 gene in seven Japanese patients with achondroplasia. 7649548

1995

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation BEFREE Within the past year, the achondroplasia locus has been mapped to 4p 16.3 (refs 5-7) and mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been identified in patients with the disorder. 7670477

1995

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation BEFREE A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. 7702086

1995

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 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

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker BEFREE This observation indicates allelic heterogeneity and confirms the role of mutations in the transmembrane domain of FGFR-3 in the pathogenesis of achondroplasia. 7758520

1995

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation BEFREE Mutations causing achondroplasia are in FGFR3, suggesting that mutations in this gene may cause TD. 7773297

1995

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation BEFREE Genomic DNA from 154 unrelated individuals with achondroplasia was evaluated for mutations in the fibroblast growth factor receptor 3 (FGFR3) transmembrane domain. 7847369

1995

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation UNIPROT Achondroplasia is defined by recurrent G380R mutations of FGFR3. 7847369

1995

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation BEFREE DNA studies revealed point mutations in the FGFR3 gene in ACH heterozygotes and homozygotes. 7913883

1994

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. 7913883

1994

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CLINGEN Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586

1994

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation BEFREE Thus it appears that recurrent mutations of a single amino acid in the transmembrane domain of the FGFR3 protein account for all cases (23/23) of achondroplasia in our series. 8078586

1994

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation UNIPROT Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586

1994

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker GENOMICS_ENGLAND Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586

1994

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker BEFREE These results suggest that the molecular basis of achondroplasia is unregulated signal transduction through FGFR3, which may result in inappropriate cartilage growth plate differentiation and thus abnormal long bone development. 8599935

1996

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation UNIPROT Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. 8599935

1996

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 AlteredExpression BEFREE Contrasts between the skeletal phenotype and achondroplasia suggest that activation of FGFR3 causes achondroplasia. 8630492

1996

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 AlteredExpression BEFREE In this report the effect of the ACH and TD mutations on the activity and regulation of FGFR3 are analysed. 8640234

1996

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation BEFREE We now report the linkage for the Ellis-van Creveld syndrome gene to markers on the distal short arm of human chromosome 4, with Zmax = 6.91 at theta = 0.02 for marker HOX7, in a region proximal to the FGFR3 gene responsible for the achondroplasia phenotype. 8661097

1996

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation BEFREE Our results support the argument that the G380R mutation of FGFR-3 is the most frequent mutation causing achondroplasia across different populations. 8682509

1996

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation BEFREE Thus, it appears that recurrent mutations of a single amino acid in the transmembrane domain of the FGFR3 protein account for all cases (23/23) of achondroplasia in our series. 8742128

1996

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 AlteredExpression BEFREE These results together with our earlier observation that achondroplasia results from constitutive activation of the related receptor FGFR3, leads to the prediction that other malformation syndromes attributed to FGFRs, such as Pfeiffer syndrome and Thanatophoric dysplasia, also arise from constitutive receptor activation. 8755573

1996