SLC1A2, solute carrier family 1 member 2, 6506

N. diseases: 208; N. variants: 12
Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 GeneticVariation group BEFREE De novo variants were found only in SLC1A2 (aka EAAT2 or GLT1) (c.244G>A [p.Gly82Arg]) and YWHAG (aka 14-3-3γ) (c.394C>T [p.Arg132Cys]), highlighting the potential cause of EE in 5% (2/42) of subjects. 28777935 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 AlteredExpression group BEFREE Decreased expression of GLT-1 in brain in acute liver failure results in increased extracellular brain glutamate concentrations which correlates with arterial ammonia concentrations and with the appearance of severe encephalopathy and brain edema in these animals. 10555780 1999
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 Biomarker group HPO