DISEASES

Disease-gene associations mined from literature

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Human genes for intermediate spinal muscular atrophy

Intermediate spinal muscular atrophy [DOID:0050530]

A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.

Synonyms:  intermediate spinal muscular atrophy,  DOID:0050530,  intermediate spinal muscular atrophies,  MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM,  MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE ...

Linkouts:  OMIM

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.