Diaphyseal dysplasia Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. (Human Disease Ontology, DOID_4997)
External Link http://www.omim.org/entry/131300
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1 genes associated with the Diaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
TGFB1 transforming growth factor, beta 1