DISEASES

Disease-gene associations mined from literature

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Human genes for congenital myasthenic syndrome 7

Congenital myasthenic syndrome 7 [DOID:0110659]

A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.

Synonyms:  congenital myasthenic syndrome 7,  DOID:0110659,  CMS7,  congenital myasthenic syndrome 7 presynaptic

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.