DISEASES

Disease-gene associations mined from literature

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Human genes for osteogenesis imperfecta type 12

Osteogenesis imperfecta type 12 [DOID:0110348]

An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13.

Synonyms:  osteogenesis imperfecta type 12,  DOID:0110348,  OI12,  osteogenesis imperfecta type XII,  osteogenesis imperfecta type XIIs

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.