rs28933068, FGFR3

N. diseases: 30
Disease: Craniosynostosis ×
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 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871 2014
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871 2014
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. 23165795 2012
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. 23165795 2012
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. 23149434 2012
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. 11754059 2001
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
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
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Achondroplasia-hypochondroplasia complex in a newborn infant. 10360392 1999
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. 9452043 1998
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. 9452043 1998
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. 7670477 1995
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. 7670477 1995
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR A common FGFR3 gene mutation in hypochondroplasia. 8589686 1995
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR A common FGFR3 gene mutation in hypochondroplasia. 8589686 1995