DISEASES

Disease-gene associations mined from literature

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Human genes for osteogenesis imperfecta type 1

Osteogenesis imperfecta type 1 [DOID:0110334]

An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

Synonyms:  osteogenesis imperfecta type 1,  DOID:0110334,  OI1,  osteogenesis imperfecta type I,  osteogenesis imperfecta type Is

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.