DISEASES - autosomal recessive spinocerebellar ataxia 16

Human genes for autosomal recessive spinocerebellar ataxia 16

Autosomal recessive spinocerebellar ataxia 16 [DOID:0080029]

An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.

Synonyms: autosomal recessive spinocerebellar ataxia 16, DOID:0080029

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.