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: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
0.040 Biomarker disease BEFREE AQP4 depolarization may lead to motor neuron degeneration in ALS via GLT-1. 30980198 2019
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
0.040 Biomarker disease BEFREE However, it remains unknown whether the reduction in GLT1 has a primary role in the induction of motor neuron degeneration in ALS. 29458024 2018
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
0.040 AlteredExpression disease BEFREE We focused on transcriptional regulation of glutamate transporter EAAT2, whose reduced expression may contribute to motor neuron degeneration in ALS. 28732762 2017
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
0.040 GeneticVariation disease BEFREE However, the qualitative presence of these "abnormal" EAAT2 splice variants does not appear to be sufficient to explain motor neuron degeneration in ALS. 11071482 2000