Multiple congenital exostosis Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth. (Human Disease Ontology, DOID_206)
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1 genes associated with the Multiple congenital exostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
EXT1 exostosin glycosyltransferase 1