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: 2554
Gene Symbol: GABRA1
GABRA1 		gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.410 moderate 1.000 0 1 2013 2019
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		hyperpolarization activated cyclic nucleotide gated potassium channel 1 0.564 0.654 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.130 None 1.000 0 2 2014 2018
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: 1759
Gene Symbol: DNM1
DNM1 		dynamin 1 0.595 0.692 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.430 None 1.000 0 1 2014 2018
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.430 moderate 1.000 1 3 2015 2018
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.170 None 1.000 0 2 2015 2019
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1 		spectrin alpha, non-erythrocytic 1 0.601 0.615 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.130 None 1.000 0 1 2015 2018
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: 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: 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: 5530
Gene Symbol: PPP3CA
PPP3CA 		protein phosphatase 3 catalytic subunit alpha 0.568 0.769 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.110 None 1.000 0 1 2019 2019
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