osteogenesis imperfecta Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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)
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2 genes associated with the disease osteogenesis imperfecta in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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