SLC1A3, solute carrier family 1 member 3, 6507

N. diseases: 12; N. variants: 2
Disease: EPISODIC ATAXIA, TYPE 6 (disorder) ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675211
Disease: EPISODIC ATAXIA, TYPE 6 (disorder)
EPISODIC ATAXIA, TYPE 6 (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND Our data expand the mutation spectrum of SLC1A3 and the clinical phenotype of EA6. 27829685 2017
CUI: C2675211
Disease: EPISODIC ATAXIA, TYPE 6 (disorder)
EPISODIC ATAXIA, TYPE 6 (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. 19139306 2009
CUI: C2675211
Disease: EPISODIC ATAXIA, TYPE 6 (disorder)
EPISODIC ATAXIA, TYPE 6 (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. 19139306 2009
CUI: C2675211
Disease: EPISODIC ATAXIA, TYPE 6 (disorder)
EPISODIC ATAXIA, TYPE 6 (disorder) 		0.720 GermlineCausalMutation disease ORPHANET Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. 19139306 2009
CUI: C2675211
Disease: EPISODIC ATAXIA, TYPE 6 (disorder)
EPISODIC ATAXIA, TYPE 6 (disorder) 		0.720 GeneticVariation disease UNIPROT Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. 16116111 2005
CUI: C2675211
Disease: EPISODIC ATAXIA, TYPE 6 (disorder)
EPISODIC ATAXIA, TYPE 6 (disorder) 		0.720 Biomarker disease CTD_human