DISEASES

Disease-gene associations mined from literature

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Human genes for mucopolysaccharidosis type IIIB

Mucopolysaccharidosis type IIIB [DOID:0111394]

A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.

Synonyms:  mucopolysaccharidosis type IIIB,  DOID:0111394,  mucopolysaccharidosis type IIIBs,  MPS3B,  MPSIIIB ...

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.