DISEASES

Disease-gene associations mined from literature

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Human genes for progressive myoclonus epilepsy 3

Progressive myoclonus epilepsy 3 [DOID:0111446]

A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in KCTD7 on chromosome 7q11.21.

Synonyms:  progressive myoclonus epilepsy 3,  DOID:0111446,  CLN14 disease,  EPM3,  neuronal ceroid lipofuscinosis 14 ...

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.