DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for glycogen storage disease III

Glycogen storage disease III [DOID:2748]

A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.

Synonyms:  glycogen storage disease III,  DOID:2748,  glycogen storage disease IIIs,  amylo 1,6 glucosidase deficiency,  deficiency of debranching enzyme ...

Linkouts:  OMIM

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.