DISEASES

Disease-gene associations mined from literature

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Human genes for spinal muscular atrophy with lower extremity predominant

Spinal muscular atrophy with lower extremity predominant [DOID:0070348]

A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles.

Synonyms:  spinal muscular atrophy with lower extremity predominant,  DOID:0070348,  spinal muscular atrophy with lower extremity predominants,  spinal muscular atrophy with lower extremity predominance,  spinal muscular atrophy with lower extremity predominances

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.