Source: GENOMICS_ENGLAND

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: 23327
Gene Symbol: NEDD4L
NEDD4L 		NEDD4 like E3 ubiquitin protein ligase 0.573 0.731 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.300 limited 1.000 1 0 2013 2013
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 8021
Gene Symbol: NUP214
NUP214 		nucleoporin 214 0.638 0.385 5.5E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2 		aminoacyl tRNA synthetase complex interacting multifunctional protein 2 0.393 0.923 8.0E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 9863
Gene Symbol: MAGI2
MAGI2 		membrane associated guanylate kinase, WW and PDZ domain containing 2 0.579 0.654 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.300 limited 1.000 1 0 2017 2017