Dataset | CTD Gene-Disease Associations |
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) |
External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:C535803 |
Similar Terms | |
Downloads & Tools |
1 genes/proteins associated with the disease succinic semialdehyde dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.
Symbol | Name | Standardized Value |
---|---|---|
ALDH5A1 | aldehyde dehydrogenase 5 family, member A1 | 2.88009 |