DISEASES

Disease-gene associations mined from literature

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Human genes for calvarial doughnut lesions with bone fragility

Calvarial doughnut lesions with bone fragility [DOID:0080721]

An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones.

Synonyms:  calvarial doughnut lesions with bone fragility,  calvarial doughnut lesions with bone fragilities,  DOID:0080721

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.