DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for congenital myasthenic syndrome 4C

Congenital myasthenic syndrome 4C [DOID:0110679]

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.

Synonyms:  congenital myasthenic syndrome 4C,  DOID:0110679,  CMS1D,  CMS4C,  CMS Id ...

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.