DISEASES

Disease-gene associations mined from literature

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Human genes for developmental and epileptic encephalopathy 34

Developmental and epileptic encephalopathy 34 [DOID:0080460]

A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.

Synonyms:  developmental and epileptic encephalopathy 34,  DOID:0080460,  DEE34,  early infantile epileptic encephalopathy 34

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.