DISEASES

Disease-gene associations mined from literature

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

Autosomal recessive limb-girdle muscular dystrophy type 2U [DOID:0110295]

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.

Synonyms:  autosomal recessive limb-girdle muscular dystrophy type 2U,  autosomal recessive limbgirdle muscular dystrophy type 2U,  DOID:0110295,  autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency,  LGMD2U ...

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.