DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for hyperekplexia

Hyperekplexia [DOID:0060695]

A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.

Synonyms:  hyperekplexia,  DOID:0060695,  hyperekplexias,  congenital stiff man syndrome,  familial startle disease ...

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.