DISEASES

Disease-gene associations mined from literature

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Human genes for progressive myoclonus epilepsy 8

Progressive myoclonus epilepsy 8 [DOID:0111451]

A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11.

Synonyms:  progressive myoclonus epilepsy 8,  DOID:0111451,  EMP8,  PME type 8,  progressive myoclonic epilepsy due to CERS1 deficiency ...

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.