rs121913483, FGFR3

N. diseases: 31
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 Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. 8589699 1995
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation. 11038465 2000
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria. 11879084 2002
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer. 17384684 2007
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner. 19749790 2009
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
0.700 CausalMutation CLINVAR Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. 25606676 2015