SLC1A2, solute carrier family 1 member 2, 6506

N. diseases: 208; N. variants: 12
Disease: Amyotrophic Lateral Sclerosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796998590
rs796998590
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE The differential effects of astrocyte G85R versus G37R knockdown on MN death demonstrate SOD1 mutation-specific effects on ALS pathogenesis; these differences may be a result of the different dismutase activities of the two mutants. 20962037 2011
dbSNP: rs796998590
rs796998590
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE High levels of familial Amyotrophic Lateral Sclerosis (ALS)-linked SOD1 mutants G93A and G37R were previously shown to mediate disease in mice through an acquired toxic property. 9052802 1997