DISEASES

Disease-gene associations mined from literature

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Human genes for distal spinal muscular atrophy type 3

Distal spinal muscular atrophy type 3 [DOID:0111211]

An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3.

Synonyms:  distal spinal muscular atrophy type 3,  DOID:0111211,  autosomal recessive distal spinal muscular atrophy type 3,  dHMN3 and dHMN4,  distal hereditary motor neuropathy type 3 and type 4 ...

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.