Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.450 GeneticVariation CLINVAR

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation CLINVAR

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation CLINVAR

Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 CausalMutation CLINVAR

Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.400 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.400 GeneticVariation CLINVAR

Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.200 CausalMutation CLINVAR

Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.200 GeneticVariation CLINVAR

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.200 GeneticVariation CLINVAR

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.200 CausalMutation CLINVAR

Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.200 CausalMutation CLINVAR

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.200 GeneticVariation CLINVAR

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.200 CausalMutation CLINVAR

Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.200 CausalMutation CLINVAR

Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.200 GeneticVariation CLINVAR

Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.200 GeneticVariation CLINVAR

Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.180 GeneticVariation CLINVAR

Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.180 CausalMutation CLINVAR

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.170 GeneticVariation CLINVAR

Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.150 CausalMutation CLINVAR

Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.150 GeneticVariation CLINVAR

Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.150 GeneticVariation CLINVAR

Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.140 GeneticVariation CLINVAR

Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 CausalMutation CLINVAR