DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for developmental and epileptic encephalopathy 17

Developmental and epileptic encephalopathy 17 [DOID:0080450]

A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13.

Synonyms:  developmental and epileptic encephalopathy 17,  DOID:0080450,  DEE17,  early infantile epileptic encephalopathy 17

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.