DISEASES

Disease-gene associations mined from literature

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Human genes for developmental and epileptic encephalopathy 38

Developmental and epileptic encephalopathy 38 [DOID:0080417]

A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.

Synonyms:  developmental and epileptic encephalopathy 38,  DOID:0080417,  DEE38,  early infantile epileptic encephalopathy 38

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.