Osteogenesis imperfecta Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (Human Disease Ontology, DOID_12347)
External Link http://purl.bioontology.org/ontology/SNOMEDCT/78314001
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2 genes associated with the Osteogenesis imperfecta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2