Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2 		solute carrier family 1 member 2 0.511 0.731 0.71
CUI: C4310717
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 		disease 0.700 strong 1.000 2 0 2012 2018
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2 		solute carrier family 1 member 2 0.511 0.731 0.71
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.410 moderate 1.000 1 0 2016 2019
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2 		solute carrier family 1 member 2 0.511 0.731 0.71
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 strong 1.000 1 0 2017 2017