Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.010 Biomarker disease BEFREE However, more direct evidence for abnormal tyrosine kinase receptor signalling in AN has been provided by studies of craniosynostosis and skeletal dysplasia syndromes with AN, which have identified activating mutations in fibroblast growth factor receptors. 12452857 2002