Source: CURATED

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: 9568
Gene Symbol: GABBR2
GABBR2 		gamma-aminobutyric acid type B receptor subunit 2 0.650 0.538 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.410 None 1.000 3 0 2014 2018
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.310 strong 1.000 1 0 2019 2019
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: 23258
Gene Symbol: DENND5A
DENND5A 		DENN domain containing 5A 0.821 0.115 5.8E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.400 moderate 1.000 2 0 2016 2017
Entrez Id: 51133
Gene Symbol: KCTD3
KCTD3 		potassium channel tetramerization domain containing 3 0.931 0.115 0.10
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.310 strong 1.000 1 0 2015 2018