DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal recessive limb-girdle muscular dystrophy type 2A

Autosomal recessive limb-girdle muscular dystrophy type 2A [DOID:0110275]

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15.

Synonyms:  autosomal recessive limb-girdle muscular dystrophy type 2A,  autosomal recessive limbgirdle muscular dystrophy type 2A,  DOID:0110275,  Leyden-Moebius muscular dystrophy,  LGMD2A ...

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.