FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 17; N. variants: 14
Source: UNIPROT ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 GeneticVariation disease UNIPROT FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation. 12297284 2002
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 GeneticVariation disease UNIPROT Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. 11746040 2001
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 GeneticVariation disease UNIPROT The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation. 10611230 2000
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 GeneticVariation disease UNIPROT Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. 9950359 1999
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 GeneticVariation disease UNIPROT A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. 9042914 1997
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 GeneticVariation disease UNIPROT Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. 8599935 1996
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 GeneticVariation disease 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
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 GeneticVariation disease UNIPROT Achondroplasia is defined by recurrent G380R mutations of FGFR3. 7847369 1995
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 GeneticVariation disease UNIPROT Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586 1994
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation disease UNIPROT Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. 12707965 2003
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.800 GeneticVariation disease UNIPROT FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation. 12297284 2002
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.800 GeneticVariation disease UNIPROT Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. 11314002 2001
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation disease UNIPROT In 90 individuals with suspected clinical diagnoses of hypochondroplasia who do not have Asn540Lys mutations, we screened for mutations, in FGFR3 exon 15, that would disrupt a unique BbsI restriction site that includes the Lys650 codon. 11055896 2000
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation disease UNIPROT Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. 10777366 2000
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.800 GeneticVariation disease UNIPROT Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491 1999
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.800 GeneticVariation disease UNIPROT We examined 22 cases of TD variants for the presence of missense mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. 10360402 1999
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.800 GeneticVariation disease UNIPROT We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations. 10053006 1999
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation disease UNIPROT Here we report an A to G transition at position 1651, predicting an Ile538Val substitution in the FGFR3, in hypochondroplasia. 10215410 1998
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation disease UNIPROT Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. 9452043 1998
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.800 GeneticVariation disease UNIPROT In conclusion, we have identified the G370C mutation in the FGFR3 gene in a Japanese TD1 patient. 9790257 1998
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.800 GeneticVariation disease UNIPROT Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online. 10671061 1998
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.800 GeneticVariation disease UNIPROT The mechanism of FGFR3 activation in TDII was probed by constructing various point mutations in the activation loop. 8754806 1996
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.800 GeneticVariation disease UNIPROT Here, we report the identification of FGFR3 mutations in 25/26 TD cases. 8845844 1996
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation disease UNIPROT We now report a single FGFR3 mutation found in 8 out of 14 unrelated patients with hypochondroplasia. 7670477 1995
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.800 GeneticVariation disease UNIPROT Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. 7773297 1995