DISEASES

Disease-gene associations mined from literature

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Human genes for progressive myoclonus epilepsy 1A

Progressive myoclonus epilepsy 1A [DOID:0111452]

An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in CSTB on chromosome 21q22.3.

Synonyms:  progressive myoclonus epilepsy 1A,  DOID:0111452,  EPM1A

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.