DISEASES

Disease-gene associations mined from literature

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Human genes for biotin-responsive basal ganglia disease

Biotin-responsive basal ganglia disease [DOID:0050659]

A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia.

Synonyms:  biotin-responsive basal ganglia disease,  biotinresponsive basal ganglia disease,  biotin-responsive basal ganglia disorder,  biotin-responsive basal ganglia syndrome,  biotin-responsive basal ganglia diseases ...

Linkouts:  OMIM

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.