DISEASES

Disease-gene associations mined from literature

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Human genes for familial adult myoclonic epilepsy 6

Familial adult myoclonic epilepsy 6 [DOID:0111696]

A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in TNRC6A on chromosome 16p12.1.

Synonyms:  familial adult myoclonic epilepsy 6,  DOID:0111696,  hereditary adult myoclonic epilepsy 6,  BAFME6,  benign adult familial myoclonic epilepsy 6 ...

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.