SLC1A3, solute carrier family 1 member 3, 6507

N. diseases: 109; N. variants: 7
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 GeneticVariation phenotype BEFREE In this study, we found a novel missense mutation, c.383T>G (p.Met128Arg) in SLC1A3, in an EA patient by whole-exome sequencing. 29208948 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 Biomarker phenotype BEFREE Dysregulation of EAAT1 contributes to the pathogenesis of multiple neurological disorders, such as Alzheimer's disease (AD), ataxia, traumatic brain injuries, and glaucoma. 28812276 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 Biomarker phenotype HPO