Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		0.100 Biomarker phenotype HPO
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.100 Biomarker phenotype HPO
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: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		0.300 Biomarker disease CTD_human Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 17438226 2007
CUI: C0752198
Disease: Adult-Onset Idiopathic Focal Dystonias
Adult-Onset Idiopathic Focal Dystonias 		0.300 Biomarker disease CTD_human Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 17438226 2007
CUI: C0752199
Disease: Adult-Onset Idiopathic Torsion Dystonias
Adult-Onset Idiopathic Torsion Dystonias 		0.300 Biomarker disease CTD_human Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 17438226 2007
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: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
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: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 Biomarker disease HPO
CUI: C0752200
Disease: Autosomal Dominant Familial Dystonia
Autosomal Dominant Familial Dystonia 		0.300 Biomarker disease CTD_human Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 17438226 2007
CUI: C0752201
Disease: Autosomal Recessive Familial Dystonia
Autosomal Recessive Familial Dystonia 		0.300 Biomarker disease CTD_human Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 17438226 2007
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: 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: 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: C0750968
Disease: Central Nervous System Metabolic Disorders
Central Nervous System Metabolic Disorders 		0.300 Biomarker disease CTD_human Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 17438226 2007
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias 		0.300 Biomarker disease CTD_human Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 17438226 2007
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
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: 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