DISEASES

Disease-gene associations mined from literature

JensenLab
SearchDownloadsAbout

Human genes for progressive myoclonus epilepsy 4

Progressive myoclonus epilepsy 4 [DOID:0111444]

A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1.

Synonyms:  progressive myoclonus epilepsy 4,  DOID:0111444,  AMRF,  EPM4,  Myoclonus-nephropathy syndrome ...

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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.