DISEASES

Disease-gene associations mined from literature

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Literature associating AGL and arthrogryposis, renal dysfunction, and cholestasis 1

AGL [ENSP00000294724]

Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase; Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4- alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6- glucosidase in glycogen degradation; Belongs to the glycogen debranching enzyme family.

Synonyms:  AGL,  G1UI17,  P35573,  G1UI17p,  hG1UI17 ...

Linkouts:  STRING  Pharos  UniProt  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.