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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.410 moderate 1.000 1 0 2016 2019
Entrez Id: 6263
Gene Symbol: RYR3
RYR3 		ryanodine receptor 3 0.666 0.462 0.71
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.300 limited 1.000 2 0 2014 2018
Entrez Id: 23327
Gene Symbol: NEDD4L
NEDD4L 		NEDD4 like E3 ubiquitin protein ligase 0.573 0.731 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.300 limited 1.000 1 0 2013 2013
Entrez Id: 5602
Gene Symbol: MAPK10
MAPK10 		mitogen-activated protein kinase 10 0.606 0.692 0.28
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.310 limited 1.000 1 0 2006 2013
Entrez Id: 9863
Gene Symbol: MAGI2
MAGI2 		membrane associated guanylate kinase, WW and PDZ domain containing 2 0.579 0.654 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.300 limited 1.000 1 0 2017 2017