DISEASES

Disease-gene associations mined from literature

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Human genes for osteogenesis imperfecta type 19

Osteogenesis imperfecta type 19 [DOID:0111847]

An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12.

Synonyms:  osteogenesis imperfecta type 19,  DOID:0111847,  OI19,  osteogenesis imperfecta type XIX,  osteogenesis imperfecta type XIXs

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.