SLC1A2, solute carrier family 1 member 2, 6506

N. diseases: 208; N. variants: 12
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037942
rs886037942
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C4310717
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.800 GeneticVariation UNIPROT De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. 28777935 2017
dbSNP: rs886037943
rs886037943
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C4310717
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.800 GeneticVariation UNIPROT De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. 28777935 2017
dbSNP: rs886037942
rs886037942
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C4310717
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.800 GeneticVariation UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
dbSNP: rs886037943
rs886037943
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C4310717
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		0.800 GeneticVariation UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
dbSNP: rs886037942
rs886037942
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C4310717
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		G 0.800 CausalMutation CLINVAR
dbSNP: rs886037942
rs886037942
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C4310717
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		T 0.800 CausalMutation CLINVAR
dbSNP: rs886037943
rs886037943
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C4310717
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		G 0.800 CausalMutation CLINVAR
dbSNP: rs781379291
rs781379291
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C4310717
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		C 0.700 GeneticVariation CLINVAR De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. 28777935 2017
dbSNP: rs781379291
rs781379291
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C4310717
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		C 0.700 GeneticVariation CLINVAR Mutating a conserved proline residue within the trimerization domain modifies Na+ binding to excitatory amino acid transporters and associated conformational changes. 24214974 2013
dbSNP: rs781379291
rs781379291
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C4310717
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		C 0.700 GeneticVariation CLINVAR A point mutation associated with episodic ataxia 6 increases glutamate transporter anion currents. 23107647 2012
dbSNP: rs781379291
rs781379291
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C4310717
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		C 0.700 CausalMutation CLINVAR