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: 6263
Gene Symbol: RYR3
RYR3
ryanodine receptor 3 0.666 0.462 0.71
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 limited 1.000 2 0 2014 2018
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
solute carrier family 1 member 2 0.511 0.731 0.71
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.410 moderate 1.000 1 0 2016 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.330 strong 1.000 1 0 2007 2016
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.310 strong 1.000 2 0 2006 2015
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.400 None 1.000 1 1 2012 2012