FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Brachycephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.410 GeneticVariation disease BEFREE Suboptimal morphological and mental outcomes can be expected in patients with nonsyndromic brachycephaly who carry the FGFR3 P250R mutation. 12087222 2002
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.410 GermlineCausalMutation disease ORPHANET A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis. 10914960 2000
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.410 Biomarker disease HPO