DISEASES

Disease-gene associations mined from literature

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Human genes for congenital myasthenic syndrome 13

Congenital myasthenic syndrome 13 [DOID:0110676]

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.

Synonyms:  congenital myasthenic syndrome 13,  DOID:0110676,  CMS13,  CMSTA2,  congenital myasthenic syndrome 13 with tubular aggregates ...

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.