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: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.120 None 0.500 0 1 2013 2019
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 5
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1 		potassium voltage-gated channel subfamily B member 1 0.650 0.462 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.150 None 1.000 0 19 2014 2019
Entrez Id: 8099
Gene Symbol: CDK2AP1
CDK2AP1 		cyclin dependent kinase 2 associated protein 1 0.656 0.538 0.45
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 1
Entrez Id: 1468
Gene Symbol: SLC25A10
SLC25A10 		solute carrier family 25 member 10 0.666 0.500 5.9E-10
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.110 None 1.000 1 1 2018 2018
Entrez Id: 7358
Gene Symbol: UGDH
UGDH 		UDP-glucose 6-dehydrogenase 0.678 0.615 6.8E-04
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 1
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2 		adaptor related protein complex 3 subunit beta 2 0.691 0.346 0.77
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.110 None 1.000 0 2 2016 2016
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292 		zinc finger protein 292 0.695 0.423 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 1
Entrez Id: 7407
Gene Symbol: VARS1
VARS1 		valyl-tRNA synthetase 1 0.711 0.500 1.8E-08
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.110 None 1.000 0 2 2019 2019
Entrez Id: 10869
Gene Symbol: USP19
USP19 		ubiquitin specific peptidase 19 0.751 0.346 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 2
Entrez Id: 283692
Gene Symbol: CPEB1-AS1
CPEB1-AS1 		CPEB1 antisense RNA 1 0.931 0.038
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 2