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: 7337
Gene Symbol: UBE3A
UBE3A
ubiquitin protein ligase E3A 0.590 0.483 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 8 0 1990 2011
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
pyridoxamine 5'-phosphate oxidase 0.690 0.276 7.3E-09
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.320 strong 1.000 8 0 2005 2018
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
ectopic P-granules autophagy protein 5 homolog 0.624 0.690 2.4E-13
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 7 0 2013 2018
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
glutamate ionotropic receptor NMDA type subunit 1 0.630 0.448 0.99
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.310 strong 1.000 6 0 2011 2018
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
solute carrier family 1 member 2 0.572 0.517 0.62
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.400 strong 5 0 1997 2018
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.607 0.483 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 4 0 2011 2016
Entrez Id: 7532
Gene Symbol: YWHAG
YWHAG
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma 0.727 0.310 0.97
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 4 0 2014 2017
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
gamma-aminobutyric acid type B receptor subunit 2 0.701 0.379 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.310 strong 1.000 4 0 2017 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.403 0.759 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 4 0 2002 2017
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
3-hydroxy-3-methylglutaryl-CoA lyase 0.785 0.207 2.4E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 4 0 1996 2018
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
BSCL2, seipin lipid droplet biogenesis associated 0.565 0.586 1.0E-09
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 4 0 2004 2016
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
solute carrier family 6 member 19 0.690 0.379 3.3E-23
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 3 0 2009 2016
Entrez Id: 6821
Gene Symbol: SUOX
SUOX
sulfite oxidase 0.667 0.448 5.1E-07
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 3 0 2002 2016
Entrez Id: 51124
Gene Symbol: IER3IP1
IER3IP1
immediate early response 3 interacting protein 1 0.707 0.310 2.7E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.310 strong 1.000 3 0 2011 2015
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.399 0.793 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 3 0 2015 2016
Entrez Id: 23152
Gene Symbol: CIC
CIC
capicua transcriptional repressor 0.580 0.517 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 3 0 2010 2017
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
SZT2, KICSTOR complex subunit 0.799 0.069 1.1E-15
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.420 strong 1.000 2 0 2013 2018
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
spermatogenesis associated 5 0.735 0.310 6.3E-20
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 2 0 2015 2018
Entrez Id: 10159
Gene Symbol: ATP6AP2
ATP6AP2
ATPase H+ transporting accessory protein 2 0.596 0.586 0.89
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 2 0 2005 2015
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.636 0.448 0.66
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.420 strong 1.000 2 1 2014 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.463 0.690 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 2 0 2009 2017
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2
RAN binding protein 2 0.659 0.517 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 2 0 2009 2016
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
calcium voltage-gated channel subunit alpha1 D 0.594 0.483 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 2 0 2013 2018
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2, mitochondrial 0.469 0.655 0.87
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 2 0 2010 2014
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C
coiled-coil domain containing 88C 0.663 0.276 4.9E-08
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 limited 2 0 2010 2013