osteopetrosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. (Human Disease Ontology, DOID_13533)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011002
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Genes

5 genes associated with the osteopetrosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CLCN7 chloride channel, voltage-sensitive 7
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
OSTM1 osteopetrosis associated transmembrane protein 1
PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator