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: 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: 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: 2902
Gene Symbol: GRIN1
GRIN1
glutamate ionotropic receptor NMDA type subunit 1 0.561 0.692 0.98
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.440 strong 1.000 3 0 2013 2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
G protein subunit alpha o1 0.523 0.808 0.99
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.450 strong 1.000 1 1 2013 2017
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
potassium voltage-gated channel subfamily A member 2 0.612 0.577 0.91
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.460 strong 1.000 0 0 2015 2018