Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0276289
Disease: Zika Virus Infection
Zika Virus Infection 		0.010 AlteredExpression disease BEFREE Interestingly, the ZIKV infection signature revealed the downregulation of ALDH5A1 and CHML, genes implicated in neurological (cognitive impairment, expressive language deficit, and mild ataxia) and ophthalmic (choroideremia) disorders, respectively. 30046058 2018
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp 		0.300 Biomarker disease CTD_human Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 17438226 2007
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 GeneticVariation phenotype BEFREE The accumulation of HBA metabolites caused by HGSOC was also associated with reduced expression of succinic semialdehyde dehydrogenase (encoded by ALDH5A1), and with the presence of an epithelial-to-mesenchymal transition gene signature, implying a role for these metabolic alterations in cancer cell migration and invasion. 26685161 2016
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 AlteredExpression disease BEFREE In samples of 23 patients undergoing intensive phase TB therapy for 4 weeks, we identified drug-induced host-metabolome variations before and at repeated time intervals post-treatment: (1) an overall reduction in the oxidative stress levels over the course of TB treatment; (2) a time-dependent induction and inhibition of several enzymes in response to the drugs (CYP2E1, CYP3A4, alcohol dehydrogenase, and aminocarboxymuconate-semialdehyde decarboxylase), and altered oxidative stress levels (aconitase, formylglycine-generating enzyme, α-ketoglutarate dehydrogenase, and succinate-semialdehyde dehydrogenase); (3) an upregulated urea cycle; and (4) altered insulin production. 31613685 2019
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.110 Biomarker disease BEFREE Murine succinate semialdehyde dehydrogenase (SSADH) deficiency (OMIM 271980; EC 1.2.1.24), a model of the corresponding human disorder, displays 100% mortality at weeks 3-4 of life, associated with lethal tonic-clonic seizures. 15093183 2004
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.110 Biomarker disease HPO
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 Biomarker disease BEFREE Deficiency in ALDH5A1 causes 4-hydroxybutyric aciduria. 10971205 2000
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation disease CLINVAR
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 CausalMutation disease CLINVAR Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 11243727 2001
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation disease BEFREE Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype. 25122112 2015
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation disease BEFREE Our study expands the mutation spectrum of ALDH5A1 and highlights the importance of molecular genetic evaluation in patients with SSADH deficiency. 31117962 2019
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 CausalMutation disease CLINVAR Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. 14635103 2003
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation disease BEFREE Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disorder of γ-aminobutyric acid (GABA) catabolism caused by mutations in the gene coding for succinic semialdehyde dehydrogenase (ALDH5A1). 31267348 2019
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 Biomarker disease 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: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 Biomarker disease BEFREE Inherited deficiency of SSADH results in accumulation of the neuromodulator γ-hydroxybutyrate (GHB), which likely contributes to some aspects of the neurological phenotype of SSADH deficiency (MIM #271980). 21438145 2011
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 Biomarker disease CTD_human Discovery of a series of aromatic lactones as ALDH1/2-directed inhibitors. 25641190 2015
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation disease UNIPROT Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. 14635103 2003
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 CausalMutation disease CLINVAR SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site. 28664505 2017
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation disease BEFREE A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. 23825041 2013
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation disease BEFREE Numerous metabolic perturbations unmasked in SSADHD include alterations in oxidative stress parameters, dysregulation of autophagy and mitophagy, dysregulation of both inhibitory and excitatory neurotransmitters and gene expression, and unique subsets of SNP alterations of the SSADH gene (so-called ALDH5A1, or aldehyde dehydrogenase 5A1 gene) on the 6p22 chromosomal arm. 27311541 2016
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 Biomarker disease BEFREE We present a patient with Rett syndrome (RTT; MECP2) and autosomal-recessive succinic semialdehyde dehydrogenase deficiency (SSADHD; ALDH5A1 (aldehyde dehydrogenase 5a1 = SSADH), in whom the current phenotype exhibits features of SSADHD (hypotonia, global developmental delay) and RTT (hand stereotypies, gait anomalies). 30829465 2019
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation disease BEFREE A study in 2003 described 35 mutations of ALDH5A1 in 54 unrelated families, and the current study and systematic literature review identified nine additional novel mutations in eight unrelated families bringing the total number of unique mutations of ALDH5A1 resulting in SSADH deficiency to 44, and the 44 mutations occur from exon 1 to exon 10. 25431891 2016
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 Biomarker disease CTD_human A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. 23825041 2013
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation disease BEFREE Diagnosis of SSADH deficiency in our patient was established by demonstration of absent enzyme activity in isolated leucocytes, and was associated with a novel missense mutation (c.587G>A; p.Gly196Asp) in the SSADH coding sequence. 16545979 2006