DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for centronuclear myopathy 6 with fiber-type disproportion

Centronuclear myopathy 6 with fiber-type disproportion [DOID:0111221]

A congenital fiber-type disproportion characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ZAK on 2q31.1.

Synonyms:  centronuclear myopathy 6 with fiber-type disproportion,  DOID:0111221,  centronuclear myopathy 6 with fibertype disproportion,  CNM6

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.