DISEASES

Disease-gene associations mined from literature

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Human genes for mucopolysaccharidosis type IIIC

Mucopolysaccharidosis type IIIC [DOID:0111393]

A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in HGSNAT on chromosome 8p11.2-p11.1.

Synonyms:  mucopolysaccharidosis type IIIC,  DOID:0111393,  mucopolysaccharidosis type IIICs,  Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency,  Heparan-alpha-glucosaminide N-acetyltransferase deficiency ...

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.