DISEASES

Disease-gene associations mined from literature

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Human genes for spinocerebellar ataxia type 1 with axonal neuropathy

Spinocerebellar ataxia type 1 with axonal neuropathy [DOID:0090115]

A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11.

Synonyms:  spinocerebellar ataxia type 1 with axonal neuropathy,  DOID:0090115,  autosomal recessive spinocerebellar ataxia with axonal neuropathy,  SCAN1,  autosomal recessive spinocerebellar ataxia with axonal neuropathies

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.