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: 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: 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: 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 1 1 2013 2019
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: 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