Craniofacial Dysostosis Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. (Human Disease Ontology, DOID_2339)
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1 genes/proteins associated with the disease Craniofacial Dysostosis from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
FGFR2 fibroblast growth factor receptor 2 2.88009