Osteopetrosis Gene Set

Dataset HuGE Navigator Gene-Phenotype 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)
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Genes

6 genes associated with the Osteopetrosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
CLCN7 chloride channel, voltage-sensitive 7
COL1A1 collagen, type I, alpha 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
ESR1 estrogen receptor 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor