DISEASES

Disease-gene associations mined from literature

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Human genes for myofibrillar myopathy 1

Myofibrillar myopathy 1 [DOID:0080092]

A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.

Synonyms:  myofibrillar myopathy 1,  DOID:0080092,  autosomal recessive limb-girdle muscular dystrophy type 2R,  desminopathy,  autosomal recessive limbgirdle muscular dystrophy type 2R ...

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.