DISEASES

Disease-gene associations mined from literature

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Human genes for cherubism

Cherubism [DOID:1856]

A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in SH3BP2 on chromosome 4p16.3.

Synonyms:  cherubism,  cherubisms,  DOID:1856

Linkouts:  OMIM

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.