DISEASES

Disease-gene associations mined from literature

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Human genes for ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency [DOID:9271]

An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

Synonyms:  ornithine carbamoyltransferase deficiency,  DOID:9271,  ornithine carbamoyltransferase deficiencies,  deficiency of citrulline phosphorylase,  ornithine transcarbamylase 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.