DISEASES

Disease-gene associations mined from literature

JensenLab
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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.