DISEASES

Disease-gene associations mined from literature

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Human genes for ataxia with oculomotor apraxia type 3

Ataxia with oculomotor apraxia type 3 [DOID:0060557]

An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13.

Synonyms:  ataxia with oculomotor apraxia type 3,  DOID:0060557,  ataxia-oculomotor apraxia 3,  ataxiaoculomotor apraxia 3

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.