Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group CTD_human A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. 23825041 2013
CUI: C0006112
Disease: Brain Diseases, Metabolic
Brain Diseases, Metabolic 		0.300 Biomarker group CTD_human Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 17438226 2007
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.300 Biomarker group CTD_human Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder. 29031482 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.300 Biomarker group CTD_human Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 17438226 2007
CUI: C0422837
Disease: Neurological observations
Neurological observations 		0.300 Biomarker group CTD_human Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder. 29031482 2018
CUI: C0521654
Disease: Neurologic Deficits
Neurologic Deficits 		0.300 Biomarker group CTD_human Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder. 29031482 2018
CUI: C0751744
Disease: Brain Diseases, Metabolic, Acquired
Brain Diseases, Metabolic, Acquired 		0.300 Biomarker group CTD_human Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 17438226 2007
CUI: C1135773
Disease: Acquired Metabolic Diseases, Nervous System
Acquired Metabolic Diseases, Nervous System 		0.300 Biomarker group CTD_human Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 17438226 2007
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. 19172412 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. 26268900 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. 27268762 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. 12743223 2003
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR 4-Hydroxybutyric aciduria. 7726383 1994
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Inherited disorders of neurotransmitters in children and adults. 16298354 2005
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.100 Biomarker group HPO
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. 23825041 2013
CUI: C0027854
Disease: Neurologic Manifestations
Neurologic Manifestations 		0.300 Biomarker phenotype CTD_human Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder. 29031482 2018
CUI: C0746857
Disease: Focal Neurologic Deficits
Focal Neurologic Deficits 		0.300 Biomarker phenotype CTD_human Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder. 29031482 2018
CUI: C0751377
Disease: Neurologic Dysfunction
Neurologic Dysfunction 		0.300 Biomarker phenotype CTD_human Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder. 29031482 2018
CUI: C0751378
Disease: Neurologic Signs
Neurologic Signs 		0.300 Biomarker phenotype CTD_human Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder. 29031482 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.110 GeneticVariation phenotype BEFREE Succinic semialdehyde dehydrogenase deficiency, resulting from mutations of ALDH5A1, causes a variety of neural and behavioral abnormalities, including strabismus. 24327614 2014
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.110 Biomarker phenotype HPO
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.110 AlteredExpression phenotype BEFREE We speculate that the duplication (6)(p22.2) and corresponding hyperactive level of SSADH activity may have negative consequences for GABA metabolism and the role of SSADH in other metabolic sequences. 21438145 2011
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.110 Biomarker phenotype HPO