DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for nemaline myopathy 3

Nemaline myopathy 3 [DOID:0110927]

A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.

Synonyms:  nemaline myopathy 3,  DOID:0110927,  NEM3,  nemaline myopathy 3, autosomal dominant or recessive,  autosomal dominant or recessive nemaline myopathy 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.