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: 8936
Gene Symbol: WASF1
WASF1 		WASP family member 1 0.547 0.808 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 1
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 1
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: 10869
Gene Symbol: USP19
USP19 		ubiquitin specific peptidase 19 0.751 0.346 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 2
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: 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: 26227
Gene Symbol: PHGDH
PHGDH 		phosphoglycerate dehydrogenase 0.484 0.885 1.3E-04
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 2
Entrez Id: 283692
Gene Symbol: CPEB1-AS1
CPEB1-AS1 		CPEB1 antisense RNA 1 0.931 0.038
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 2
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: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 5