DISEASES

Disease-gene associations mined from literature

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Human genes for osteogenesis imperfecta type 18

Osteogenesis imperfecta type 18 [DOID:0111848]

An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1.

Synonyms:  osteogenesis imperfecta type 18,  DOID:0111848,  OI18,  osteogenesis imperfecta, type XVIII,  osteogenesis imperfecta type XVIII ...

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.