DISEASES

Disease-gene associations mined from literature

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Human genes for glycogen storage disease IV

Glycogen storage disease IV [DOID:2750]

A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.

Synonyms:  glycogen storage disease IV,  DOID:2750,  glycogen storage disease IVs,  Amylopectinosis,  brancher deficiency glycogenosis ...

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.