DISEASES

Disease-gene associations mined from literature

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Human genes for isolated sulfite oxidase deficiency

Isolated sulfite oxidase deficiency [DOID:0111270]

An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2.

Synonyms:  isolated sulfite oxidase deficiency,  DOID:0111270,  isolated sulfite oxidase deficiencies,  sulfocysteinuria,  sulfocysteinurias

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.