FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
0.420 GeneticVariation disease BEFREE Between January and December of 1996, patients with a diagnosis of plagiocephaly at the Children's Hospital of Philadelphia were evaluated for the FGFR3 mutation. 11743367 2001
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
0.420 GermlineCausalMutation disease ORPHANET A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis. 10914960 2000
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
0.420 GeneticVariation disease BEFREE To determine whether the autosomal dominant fibroblast growth factor receptor 3 (FGFR3) Pro250Arg mutation causes anterior plagiocephaly, patients with either apparently sporadic unicoronal synostosis (N = 37) or other forms of anterior plagiocephaly (N = 10) were studied for this mutation. 9580776 1998
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
0.420 Biomarker disease HPO