DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked spinal muscular atrophy 2

X-linked spinal muscular atrophy 2 [DOID:0111827]

A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in UBA1 on chromosome Xp11.3.

Synonyms:  X-linked spinal muscular atrophy 2,  DOID:0111827,  Xlinked spinal muscular atrophy 2,  infantile-onset X-linked spinal muscular atrophy,  SMAX2 ...

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.