DISEASES

Disease-gene associations mined from literature

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Human genes for progressive myoclonus epilepsy 1B

Progressive myoclonus epilepsy 1B [DOID:0111448]

An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in PRICKLE1 on chromosome 12q12.

Synonyms:  progressive myoclonus epilepsy 1B,  DOID:0111448,  EPM1B

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.