DISEASES

Disease-gene associations mined from literature

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Human genes for cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis [DOID:4810]

A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.

Synonyms:  cerebrotendinous xanthomatosis,  cerebrotendinous xanthomatosises,  DOID:4810,  Cholestanol storage disease,  Cholestanol storage disorder ...

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.