Source: CLINVAR

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: 170302
Gene Symbol: ARX
ARX 		aristaless related homeobox 0.516 0.654 0.91
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease 0.700 definitive 1.000 18 14 2002 2018
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		G protein subunit alpha o1 0.523 0.808 0.99
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease 0.400 definitive 1.000 0 1 1997 2019
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease 0.100 None 1.000 4 6 2014 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease 0.100 None 1.000 1 1 2005 2005
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease 0.100 None 1.000 1 6 2014 2014
Entrez Id: 102800317
Gene Symbol: TPTEP2-CSNK1E
TPTEP2-CSNK1E 		TPTEP2-CSNK1E readthrough 0.678 0.500
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease 0.100 None 0 1
Entrez Id: 1454
Gene Symbol: CSNK1E
CSNK1E 		casein kinase 1 epsilon 0.619 0.615 1.00
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease 0.100 None 0 1
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease 0.100 None 0 1