DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for developmental and epileptic encephalopathy 3

Developmental and epileptic encephalopathy 3 [DOID:0080440]

A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15.

Synonyms:  developmental and epileptic encephalopathy 3,  DOID:0080440,  early infantile epileptic encephalopathy 3

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.