Dataset | DISEASES Curated Gene-Disease Assocation Evidence Scores |
Category | disease or phenotype associations |
Type | disease |
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) |
Similar Terms | |
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1 genes involed in the disease succinic semialdehyde dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
Symbol | Name |
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ALDH5A1 | aldehyde dehydrogenase 5 family, member A1 |