DISEASES

Disease-gene associations mined from literature

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Human genes for dentatorubral-pallidoluysian atrophy

Dentatorubral-pallidoluysian atrophy [DOID:0060162]

An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.

Synonyms:  dentatorubral-pallidoluysian atrophy,  dentatorubralpallidoluysian atrophy,  dentatorubral-pallidoluysian atrophies,  DOID:0060162,  DRPLA ...

Linkouts:  OMIM

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.