rs28928868, FGFR3

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature. 20453470 2010
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? 18583390 2008
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704 2006
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 11055896 2000
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
0.700 CausalMutation CLINVAR
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
0.700 CausalMutation CLINVAR