DISEASES

Disease-gene associations mined from literature

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Human genes for scapuloperoneal spinal muscular atrophy

Scapuloperoneal spinal muscular atrophy [DOID:0111552]

A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.

Synonyms:  scapuloperoneal spinal muscular atrophy,  DOID:0111552,  scapuloperoneal spinal muscular atrophies,  neurogenic scapuloperoneal amyotrophy, New England type,  scapuloperoneal neuronopathy ...

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.