DISEASES

Disease-gene associations mined from literature

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Human genes for mucopolysaccharidosis type IIIA

Mucopolysaccharidosis type IIIA [DOID:0111395]

A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in SGSH on chromosome 17q25.3.

Synonyms:  mucopolysaccharidosis type IIIA,  DOID:0111395,  mucopolysaccharidosis type IIIAs,  MPS3A,  MPSIIIA ...

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.