DISEASES

Disease-gene associations mined from literature

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Human genes for distal spinal muscular atrophy type 5

Distal spinal muscular atrophy type 5 [DOID:0111214]

A autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35.

Synonyms:  distal spinal muscular atrophy type 5,  DOID:0111214,  autosomal recessive distal spinal muscular atrophy type 5,  DSMA5,  young adult-onset dHMN ...

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.