DISEASES

Disease-gene associations mined from literature

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Human genes for familial adult myoclonic epilepsy 5

Familial adult myoclonic epilepsy 5 [DOID:0111691]

A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in CNTN2 on chromosome 1q32.1.

Synonyms:  familial adult myoclonic epilepsy 5,  DOID:0111691,  hereditary adult myoclonic epilepsy 5,  FAME5,  FCMTE5 ...

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.