Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation BEFREE A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature. 24168007

2015

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation BEFREE Therefore, the FgfR3 (P244R) mouse provides an excellent opportunity to study disease mechanisms of some classical phenotypes of Muenke syndrome and to test novel therapeutic strategies. 22872265

2013

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation BEFREE Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3) gene. 23378035

2013

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 Biomarker BEFREE Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. 23044018

2013

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation BEFREE The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis. 22038757

2012

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation BEFREE Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. 19755431

2011

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation BEFREE Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. 20592905

2010

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 Biomarker MGD Muenke syndrome, defined by heterozygosity for a Pro250Arg substitution in fibroblast growth factor receptor 3 (FGFR3), is the most common genetic cause of craniosynostosis in humans. 19086028

2009

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation BEFREE We have used gene targeting to introduce the Muenke syndrome mutation (equivalent to P244R) into the murine Fgfr3 gene. 19086028

2009

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation BEFREE Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).Here we report a clinical and molecular study in a large cohort of 125 Portuguese patients with these skeletal disorders. 19215249

2009

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 CausalMutation CLINVAR Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).Here we report a clinical and molecular study in a large cohort of 125 Portuguese patients with these skeletal disorders. 19215249

2009

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 Biomarker MGD We have used gene targeting to introduce the Muenke syndrome mutation (equivalent to P244R) into the murine Fgfr3 gene. 19086028

2009

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 Biomarker MGD The Muenke syndrome cohort showed significant, but incompletely penetrant, predominantly low-frequency sensorineural hearing loss, and the Fgfr3(P244R) mice showed dominant, fully penetrant hearing loss that was more severe than that in Muenke syndrome individuals, but had the same pattern of relative high-frequency sparing. 18818193

2009

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation BEFREE The Muenke syndrome cohort showed significant, but incompletely penetrant, predominantly low-frequency sensorineural hearing loss, and the Fgfr3(P244R) mice showed dominant, fully penetrant hearing loss that was more severe than that in Muenke syndrome individuals, but had the same pattern of relative high-frequency sparing. 18818193

2009

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 Biomarker MGD The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome. 18818193

2009

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 Biomarker MGD Since FGF signalling plays dosage-sensitive roles in the differentiation of the auditory sensory epithelium, we evaluated hearing in a large group of Muenke syndrome subjects, as well as in the corresponding mouse model (Fgfr3(P244R)). 18818193

2009

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation BEFREE Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 18000976

2008

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation BEFREE P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. 17103449

2007

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 CausalMutation CLINVAR However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. 14613973

2004

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 CausalMutation CLINVAR Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). 15241680

2004

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation BEFREE Hypochondroplasia (HCH) and Muenke syndrome (MS) are caused by mutations on FGFR3 gene. 12794698

2004

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation UNIPROT Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. 11746040

2002

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 CausalMutation CLINVAR Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. 11746040

2002

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 CausalMutation CLINVAR Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. 11424131

2001

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 CausalMutation CLINVAR Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. 9950359

1999