DISEASES

Disease-gene associations mined from literature

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Human genes for congenital myasthenic syndrome 14

Congenital myasthenic syndrome 14 [DOID:0110669]

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.

Synonyms:  congenital myasthenic syndrome 14,  DOID:0110669,  CMS14,  CMSTA3,  congenital myasthenic syndrome 14, 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.