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: C0338656
Disease: Impaired cognition
Impaired cognition
0.040 Biomarker disease BEFREE Neuronal EAAT2 deletion leads to dysregulation of the kynurenine pathway, and astrocytic EAAT2 deficiency results in dysfunction of innate and adaptive immune pathways, which correlate with cognitive decline. 31591195 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.040 Biomarker disease BEFREE Furthermore, inhibition of GLT-1 uptake activity by dihydrokainic acid, an inhibitor of GLT-1, blocked the Cef-induced improvement on the cognitive deficits, GS activity, and SN1 expression. 30452416 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.040 Biomarker disease BEFREE In keeping with this, we have reported that partial GLT-1 loss (GLT-1+/-) causes early-occurring cognitive deficits in mice harboring familial AD AβPPswe/PS1ΔE9 mutations. 25589729 2015
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.040 GeneticVariation disease BEFREE Cognitive dysfunction and glutamate reuptake: effect of EAAT2 polymorphism in schizophrenia. 22728822 2012