diaphyseal dysplasia Gene Set

Dataset HPO Gene-Disease 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://compbio.charite.de/hpoweb/showterm?id=HP:0100252
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Genes

2 genes associated with the diaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
TBXAS1 thromboxane A synthase 1 (platelet)
TMEM165 transmembrane protein 165