DISEASES

Disease-gene associations mined from literature

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Human genes for hereditary multiple exostoses

Hereditary multiple exostoses [DOID:206]

An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.

Synonyms:  hereditary multiple exostoses,  DOID:206,  familial multiple exostoses,  hereditary multiple exostoseses,  hereditary multiple exostoses 1 ...

Linkouts:  OMIM #1 #2

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.