DISEASES

Disease-gene associations mined from literature

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Human genes for sphingolipidosis

Sphingolipidosis [DOID:1927]

A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.

Synonyms:  sphingolipidosis,  DOID:1927,  sphingolipidosises,  sphingolipidoses,  sphingolipidoseses

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.