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: 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: 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: 23036
Gene Symbol: ZNF292
ZNF292 		zinc finger protein 292 0.695 0.423 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 1
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1 		folate receptor alpha 0.522 0.885 0.13
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 1
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: 25792
Gene Symbol: CIZ1
CIZ1 		CDKN1A interacting zinc finger protein 1 0.617 0.500 6.3E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 1
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 0 1 2013 2017
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B 		ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 1
Entrez Id: 54802
Gene Symbol: TRIT1
TRIT1 		tRNA isopentenyltransferase 1 0.621 0.692 4.1E-11
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 1
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: 6660
Gene Symbol: SOX5
SOX5 		SRY-box transcription factor 5 0.545 0.769 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 1
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.120 None 0.500 0 1 2013 2019