DISEASES

Disease-gene associations mined from literature

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Human genes for cerebellar ataxia type 48

Cerebellar ataxia type 48 [DOID:0111746]

An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in STUB1 on chromosome 16p13.3.

Synonyms:  cerebellar ataxia type 48,  DOID:0111746,  SCA48

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.