DISEASES

Disease-gene associations mined from literature

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Human genes for early infantile epileptic encephalopathy 50

Early infantile epileptic encephalopathy 50 [DOID:0080419]

An early infantile epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23.

Synonyms:  early infantile epileptic encephalopathy 50,  DOID:0080419,  CDG syndrome type Iz,  CDG-Iz,  Carbohydrate deficient glycoprotein syndrome type Iz ...

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.