DISEASES

Disease-gene associations mined from literature

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Human genes for spinocerebellar ataxia type 15

Spinocerebellar ataxia type 15 [DOID:0050965]

An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene.

Synonyms:  spinocerebellar ataxia type 15,  DOID:0050965,  spinocerebellar ataxia type 16

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.