DISEASES

Disease-gene associations mined from literature

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Human genes for Niemann-Pick disease

Niemann-Pick disease [DOID:14504]

A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.

Synonyms:  Niemann-Pick disease,  DOID:14504,  NiemannPick disease,  Niemann-Pick disorder,  Niemann-Pick syndrome ...

Linkouts:  OMIM #1 #2 #3 #4

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.