DISEASES

Disease-gene associations mined from literature

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Human genes for succinic semialdehyde dehydrogenase deficiency

Succinic semialdehyde dehydrogenase deficiency [DOID:0060175]

A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.

Synonyms:  succinic semialdehyde dehydrogenase deficiency,  DOID:0060175,  succinic semialdehyde dehydrogenase deficiencies,  4-hydroxybutyric aciduria,  gamma-hydroxybutyric aciduria ...

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.