DISEASES

Disease-gene associations mined from literature

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Human genes for adult-onset type II citrullinemia

Adult-onset type II citrullinemia [DOID:0070342]

A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.

Synonyms:  adult-onset type II citrullinemia,  adultonset type II citrullinemia,  adult-onset type II citrullinemias,  DOID:0070342,  citrin deficiency ...

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.