Osteogenesis imperfecta, type 3 Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term). (Orphanet Rare Disease Ontology, Orphanet_216812)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C536044
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2 genes/proteins associated with the disease Osteogenesis imperfecta, type 3 from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
COL1A2 collagen, type I, alpha 2 2.88009
COL1A1 collagen, type I, alpha 1 2.88009