osteopetrosis Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
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)
Similar Terms
Downloads & Tools


12 genes involed in the disease osteopetrosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
CA2 carbonic anhydrase II
CLCN7 chloride channel, voltage-sensitive 7
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
LRP5 low density lipoprotein receptor-related protein 5
MIR4315-1 microRNA 4315-1
MIR4315-2 microRNA 4315-2
OSTM1 osteopetrosis associated transmembrane protein 1
SNX10 sorting nexin 10
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11