DISEASES

Disease-gene associations mined from literature

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Human genes for juvenile spinal muscular atrophy

Juvenile spinal muscular atrophy [DOID:12376]

A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk.

Synonyms:  juvenile spinal muscular atrophy,  DOID:12376,  juvenile spinal muscular atrophies,  Kugelberg-Welander disease,  SMA3 ...

Linkouts:  OMIM #1 #2 #3

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.