DISEASES

Disease-gene associations mined from literature

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

Autosomal recessive limb-girdle muscular dystrophy type 2X [DOID:0110290]

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21.

Synonyms:  autosomal recessive limb-girdle muscular dystrophy type 2X,  autosomal recessive limbgirdle muscular dystrophy type 2X,  DOID:0110290,  LGMD2X,  muscular dystrophy, limb-girdle, type 2X ...

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.