DISEASES

Disease-gene associations mined from literature

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Human genes for mucopolysaccharidosis type IVB

Mucopolysaccharidosis type IVB [DOID:0111392]

A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in GLB1 on chromosome 3p22.3.

Synonyms:  mucopolysaccharidosis type IVB,  DOID:0111392,  mucopolysaccharidosis type IVBs,  beta-D-galactosidase deficiency,  Morquio disease type B ...

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.