DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for congenital myasthenic syndrome 16

Congenital myasthenic syndrome 16 [DOID:0110682]

A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.

Synonyms:  congenital myasthenic syndrome 16,  DOID:0110682,  CMS16,  congenital myasthenic syndrome acetazolamide-responsive,  congenital myasthenic syndrome acetazolamideresponsive ...

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.