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: 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: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.400 GeneticVariation 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: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 GeneticVariation 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: 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 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: 348980
Gene Symbol: HCN1
HCN1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.130 GeneticVariation CLINVAR

Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.120 GeneticVariation CLINVAR

Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.110 GeneticVariation CLINVAR

Entrez Id: 1468
Gene Symbol: SLC25A10
SLC25A10
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.110 GeneticVariation CLINVAR SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 29211846

2018

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 GeneticVariation CLINVAR

Entrez Id: 54802
Gene Symbol: TRIT1
TRIT1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 GeneticVariation CLINVAR

Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 GeneticVariation CLINVAR

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 GeneticVariation CLINVAR

Entrez Id: 7358
Gene Symbol: UGDH
UGDH
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 GeneticVariation CLINVAR Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. 32001716

2020

Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 GeneticVariation CLINVAR

Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 GeneticVariation CLINVAR