SLC1A2, solute carrier family 1 member 2, 6506

N. diseases: 208; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy. 28915517 2018
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.700 GeneticVariation disease CLINVAR De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. 28777935 2017
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.700 GeneticVariation disease UNIPROT De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. 28777935 2017
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.700 Biomarker disease GENOMICS_ENGLAND De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. 28777935 2017
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.700 GeneticVariation disease UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.700 GeneticVariation disease CLINVAR Mutating a conserved proline residue within the trimerization domain modifies Na+ binding to excitatory amino acid transporters and associated conformational changes. 24214974 2013
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.700 GeneticVariation disease CLINVAR A point mutation associated with episodic ataxia 6 increases glutamate transporter anion currents. 23107647 2012
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.700 Biomarker disease CTD_human
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.700 CausalMutation disease CLINVAR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 GeneticVariation disease BEFREE Recurrent de novo SLC1A2 missense variants cause a severe, early onset developmental and epileptic encephalopathy via an unclear mechanism. 30937933 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker disease GENOMICS_ENGLAND De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker disease HPO
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.400 Biomarker disease BEFREE AQP4 depolarization may lead to motor neuron degeneration in ALS via GLT-1. 30980198 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.400 Biomarker disease BEFREE Further, reduced membralin and EAAT2 levels correlated with disease progression in spinal cord from SOD1-mutant mouse models, and reductions in membralin/EAAT2 were observed in human ALS spinal cord. 31112137 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.400 Biomarker disease BEFREE GLT-1 dysregulation occurs in various neurological diseases including Huntington's disease (HD), Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), and epilepsy. 31338020 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 GeneticVariation disease GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 Biomarker disease CTD_human Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE Our study suggested that low hippocampal content of SLC1A2 is a potential biomarker of epilepsy and may affect the function of neurons through the glutamatergic synapse pathway.© 2018 IUBMB Life, 71(1):213-222, 2019. 30360015 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE GLT-1 dysregulation occurs in various neurological diseases including Huntington's disease (HD), Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), and epilepsy. 31338020 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE We used immunohistochemistry, synaptosomal fractionation and Western blot analysis at 1, 3, 7 and 30 days post-IHKA induced status epilepticus (SE) to examine changes in GLT-1 and GLAST immunoreactivity and synaptosomal expression during the development of epilepsy. 31158434 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE Recent studies in our laboratory suggested that a dysfunction in the activity of the mouse astrocytic glutamate transporter 1 (GLT-1) could contribute to epilepsy in LD. 31108086 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE Here we review the role of astrocytes in epilepsy development (a.k.a. epileptogenesis), particularly astrocyte pathologies related to: aquaporin 4, the inwardly rectifying potassium channel Kir4.1, monocarboxylate transporters MCT1 and MCT2, excitatory amino acid transporters EAAT1 and EAAT2, and glutamine synthetase. 30022509 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. 30937933 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.400 Biomarker disease BEFREE Study on ceramide modulates EAAT-2 participation in the immunoinflammatory response in schizophrenia. 30915775 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.400 GeneticVariation disease BEFREE Association study of the excitatory amino acid transporter 2 (EAAT2) and glycine transporter 1 (GlyT1) gene polymorphism with schizophrenia in a Polish population. 31118638 2019