DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal recessive spinocerebellar ataxia 4

Autosomal recessive spinocerebellar ataxia 4 [DOID:0111611]

An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in VPS13D on chromosome 1p36.22-p36.21.

Synonyms:  autosomal recessive spinocerebellar ataxia 4,  DOID:0111611,  autosomal recessive cerebellar ataxia-saccadic intrusion syndrome,  SCA24,  SCAR4 ...

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.