|Dataset||DISEASES Curated Gene-Disease Assocation Evidence Scores|
|Category||disease or phenotype associations|
|Description||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. (Human Disease Ontology, DOID_0060175)|
|Downloads & Tools|
1 genes involed in the disease succinic semialdehyde dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
|ALDH5A1||aldehyde dehydrogenase 5 family, member A1|