DISEASES

Disease-gene associations mined from literature

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Human genes for glycogen storage disease IXd

Glycogen storage disease IXd [DOID:0111040]

A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13.

Synonyms:  glycogen storage disease IXd,  DOID:0111040,  glycogen storage disease IXds,  glycogenosis due to muscle phosphorylase kinase deficiency,  glycogenosis type 9D ...

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.