DISEASES

Disease-gene associations mined from literature

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Human genes for 3-methylglutaconic aciduria type 1

3-methylglutaconic aciduria type 1 [DOID:0110002]

A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22.

Synonyms:  3-methylglutaconic aciduria type 1,  3methylglutaconic aciduria type 1,  DOID:0110002,  3-methylglutaconic aciduria type I,  3-methylglutaconyl-CoA hydratase 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.