DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for developmental and epileptic encephalopathy 11

Developmental and epileptic encephalopathy 11 [DOID:0080421]

A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24.

Synonyms:  developmental and epileptic encephalopathy 11,  DOID:0080421,  DEE11,  early infantile epileptic encephalopathy 11

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.