DISEASES - autosomal recessive limb-girdle muscular dystrophy type 2S

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

Autosomal recessive limb-girdle muscular dystrophy type 2S [DOID:0110287]

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35.

Synonyms: autosomal recessive limb-girdle muscular dystrophy type 2S, autosomal recessive limbgirdle muscular dystrophy type 2S, DOID:0110287, LGMD2S, muscular dystrophy, limb-girdle, type 2S ...

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.