SLC1A2, solute carrier family 1 member 2, 6506

N. diseases: 208; N. variants: 12
Disease: Epileptic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 GeneticVariation disease BEFREE Recurrent de novo SLC1A2 missense variants cause a severe, early onset developmental and epileptic encephalopathy via an unclear mechanism. 30937933 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker disease GENOMICS_ENGLAND De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker disease HPO