DISEASES

Disease-gene associations mined from literature

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Human genes for neonatal-onset type II citrullinemia

Neonatal-onset type II citrullinemia [DOID:0070341]

A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene.

Synonyms:  neonatal-onset type II citrullinemia,  DOID:0070341,  neonatalonset type II citrullinemia,  neonatal-onset type II citrullinemias,  neonatal-onset type 2 citrullinemia ...

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.