DISEASES

Disease-gene associations mined from literature

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Human genes for mucosulfatidosis

Mucosulfatidosis [DOID:0050441]

Multiple sulfatase deficiency (also known as "Austin disease," and "Mucosulfatidosis") is a very rare autosomal recessive:561 lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes.:502 It is similar to mucopolysaccharidosis.

Synonyms:  mucosulfatidosis,  DOID:0050441,  Sulfatidosis, Juvenile, Austin Type,  multiple sulfatase deficiency disease,  Austin Type Sulfatidosis, Juvenile ...

The disease associations are derived via automatic text mining of the biomedical literature and have not been manually verified. The confidence of each association is signified by stars, where ★★★★☆ is the highest confidence and ★☆☆☆☆ is the lowest.

Each disease–gene association is based on a text-mining score, which is proportional to 1) the absolute number of comentionings and 2) the ratio of observed to expected comentionings (i.e. the enrichment). These scores are normalized to z-scores by comparing them to a random background. This is represented by stars, each star corresponding to two standard deviations above the mean of the background distribution.

Developed by Sune Frankild and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.