Osteogenesis Imperfecta Gene Set

Dataset HuGE Navigator 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)
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Genes

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

Symbol Name
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
P3H1 prolyl 3-hydroxylase 1
PTHLH parathyroid hormone-like hormone