DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for X-linked spinocerebellar ataxia 3

X-linked spinocerebellar ataxia 3 [DOID:0111831]

An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance.

Synonyms:  X-linked spinocerebellar ataxia 3,  DOID:0111831,  Xlinked spinocerebellar ataxia 3,  SCAX3,  X-linked ataxia-deafness syndrome ...

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.