DISEASES

Disease-gene associations mined from literature

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Human genes for GABA aminotransferase deficiency

GABA aminotransferase deficiency [DOID:0060174]

A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.

Synonyms:  GABA aminotransferase deficiency,  DOID:0060174,  GABA aminotransferase deficiencies,  gamma-aminobutyric acid transaminase deficiency,  Gamma-amino butyric acid transaminase deficiency ...

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.