DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for Farber lipogranulomatosis

Farber lipogranulomatosis [DOID:0050464]

A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.

Synonyms:  Farber lipogranulomatosis,  DOID:0050464,  Farber lipogranulomatosises,  Farber disease,  N-laurylsphingosine deacylase deficiency ...

Linkouts:  OMIM

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.