DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

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

Autosomal recessive limb-girdle muscular dystrophy type 2L [DOID:0110284]

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.

Synonyms:  autosomal recessive limb-girdle muscular dystrophy type 2L,  autosomal recessive limbgirdle muscular dystrophy type 2L,  DOID:0110284,  LGMD2L,  muscular dystrophy, limb-girdle, type 2L ...

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.