Source: ALL

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 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 GeneticVariation BEFREE A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature. 24168007

2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 GeneticVariation BEFREE Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation. 24705944

2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 GeneticVariation BEFREE The FGFR3 pathogenic variation p.Pro250Arg responsible for MS was characterized in all probands by PCR-restriction assay; available first-degree relatives (15 parents, 5 siblings) of the confirmed p.Pro250Arg carriers were also tested. 27568649

2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 GeneticVariation BEFREE We also identified an FGFR2 p.Ser252Leu mutation in a phenotypically normal father of a daughter with CS, and an FGFR3 p.Pro250Arg mutation in a mildly macrocephalic father of sisters with MS. 27683237

2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 GeneticVariation BEFREE Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3. 31111620

2019