DISEASES

Disease-gene associations mined from literature

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Human genes for generalized epilepsy with febrile seizures plus 2

Generalized epilepsy with febrile seizures plus 2 [DOID:0111294]

A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3.

Synonyms:  generalized epilepsy with febrile seizures plus 2,  DOID:0111294,  GEFS+2,  GEFSP2,  generalised epilepsy with febrile seizures plus 2 ...

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.