DISEASES

Disease-gene associations mined from literature

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Human genes for aspartylglucosaminuria

Aspartylglucosaminuria [DOID:0050461]

A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.

Synonyms:  aspartylglucosaminuria,  aspartylglucosaminurias,  DOID:0050461,  aspartylglucosaminidase deficiency,  aspartylglycosaminuria ...

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.