SLC1A2, solute carrier family 1 member 2, 6506

N. diseases: 208; N. variants: 12
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 ×
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