DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked spinocerebellar ataxia 1

X-linked spinocerebellar ataxia 1 [DOID:0111829]

An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in ATP2B3 on chromosome Xq28.

Synonyms:  X-linked spinocerebellar ataxia 1,  DOID:0111829,  Xlinked spinocerebellar ataxia 1,  SCAX1,  X-linked progressive cerebellar ataxia ...

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.