Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 GeneticVariation disease BEFREE The proband was compound heterozygous for pathogenic ALDH5A1 mutations (p.(Asn418IlefsTer39); maternal; p.(Gly409Asp); paternal) and a de novo RTT nonsense mutation in MECP2 (p.Arg255*). 30829465 2019
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: C0743101
Disease: developmentally delayed
developmentally delayed 		0.010 Biomarker phenotype BEFREE Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. 30829465 2019
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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 AlteredExpression disease BEFREE In addition, high Ctranscription activity of ALDH5A1 was correlated with better overall survival in SOC patients expressing mutatedTP53, but not in those expressing wild-type TP53. 28346042 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 AlteredExpression disease BEFREE In addition, high Ctranscription activity of ALDH5A1 was correlated with better overall survival in SOC patients expressing mutatedTP53, but not in those expressing wild-type TP53. 28346042 2017
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 AlteredExpression disease BEFREE In addition, high Ctranscription activity of ALDH5A1 was correlated with better overall survival in SOC patients expressing mutatedTP53, but not in those expressing wild-type TP53. 28346042 2017
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: C0038379
Disease: Strabismus
Strabismus 		0.010 GeneticVariation disease BEFREE Variation in ALDH5A1 is likely to contribute to degree of horizontal phoria. 24327614 2014
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 Biomarker disease BEFREE This ligand-to-targetto DNA sequence variant-to disease approach provided guidance on rational design of preclinical studies and identified associations between: 1) valproic acid and advanced AMD-associated genes with the capacity to alter GABA-succinate signaling (ALDH5A1, CACNA1C, SUCLA2, and GABBR2) and chromatin remodeling (HDAC9); and 2) Ropinirole and a geographic atrophy-associated gene (DRD3) with the capacity to alter systems involved in cAMP-PKA signaling. 25109799 2014
CUI: C0423063
Disease: Comitant heterophoria
Comitant heterophoria 		0.010 GeneticVariation disease BEFREE Variation in ALDH5A1 is likely to contribute to degree of horizontal phoria. 24327614 2014
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.010 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: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		0.010 AlteredExpression disease BEFREE Aldehyde dehydrogenase 5A1 (ALDH5A1) which is an enzyme that is involved in mitochondrial glutamate metabolism, was over-expressed in all three DCIS models at both the mRNA and protein levels. 23236365 2012
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.010 GeneticVariation disease BEFREE Allelic associations with generalized epilepsies have been reported for single nucleotide polymorphisms rs1883415 (ALDH5A1; succinic semialdehyde dehydrogenase) and rs4906902 (GABRB3; GABAA β3), both of which are present in the 5' regulatory region of genes involved in γ-aminobutyric acid (GABA) homeostasis. 22082659 2011
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 AlteredExpression phenotype BEFREE Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity. 21438145 2011
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		0.010 Biomarker phenotype BEFREE Aldh5a1-/-) mouse model suffers from epileptic seizures and succumbs to early lethality. 17457693 2007
CUI: C0036572
Disease: Seizures
Seizures 		0.010 Biomarker phenotype BEFREE The SSADH(-/-) mouse model represents a powerful investigative tool for understanding the pathophysiology of the seizures associated with human SSADH deficiency. 16240371 2006
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.010 GeneticVariation disease BEFREE The present results do not provide evidence that any ALDH5A1 missense variant itself contributes a common and substantial susceptibility effect (RR>2) to IGE syndromes or an increased liability to visually-induced cortical synchronization. 16406321 2006
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		0.010 GeneticVariation disease BEFREE The gene encoding SSADH (gene symbol: ALDH5A1) maps in proximity to susceptibility loci for juvenile myoclonic epilepsy (JME) and photosensitivity on chromosome 6p22. 16406321 2006
CUI: C1301721
Disease: Neurological morbidity
Neurological morbidity 		0.010 Biomarker disease BEFREE Elucidation of the precise fundamental mechanisms of the perturbation of the GABA(A)R-mediated function in SSADH(-/-) mice could lead to the development of novel treatment modalities designed to reduce the neurological morbidity in children with SSADH deficiency. 16240371 2006
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		0.010 Biomarker disease BEFREE Succinate-semialdehyde dehydrogenase (SSADH) deficiency is a rare cause of learning disability. 14981524 2004
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 GeneticVariation disease GWASCAT The Unsolved Link of Genetic Markers and Crohn's Disease Progression: A North American Cohort Experience. 30801121 2019
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. 27268762 2016