Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Disorder of skeletal system
CUI: C0263661
Disease: Disorder of skeletal system
0.010 GeneticVariation BEFREE The K650E substitution in the fibroblast growth factor receptor 3 (FGFR3) causes constitutive tyrosine kinase activity of the receptor and is associated to the lethal skeletal disorder, thanatophoric dysplasia type II (TDII). 12624096 2003