Osteopetrosis Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
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)
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Genes

13 genes involed in the disease Osteopetrosis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol Name Standardized Value
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 5.0
OSTM1 osteopetrosis associated transmembrane protein 1 4.0
MITF microphthalmia-associated transcription factor 4.0
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 4.0
CA2 carbonic anhydrase II 4.0
PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1 4.0
CLCN7 chloride channel, voltage-sensitive 7 4.0
SNX10 sorting nexin 10 4.0
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 4.0
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 4.0
LRP5 low density lipoprotein receptor-related protein 5 4.0
SLC4A2 solute carrier family 4 (anion exchanger), member 2 4.0
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator 4.0