DISEASES

Disease-gene associations mined from literature

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Human genes for molybdenum cofactor deficiency

Molybdenum cofactor deficiency [DOID:0111165]

A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage.

Synonyms:  molybdenum cofactor deficiency,  DOID:0111165,  molybdenum cofactor deficiencies,  combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase,  MOCOD ...

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.