Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 8120
Gene Symbol: AP3B2
AP3B2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.110 GeneticVariation CLINVAR

Entrez Id: 7407
Gene Symbol: VARS1
VARS1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.110 CausalMutation CLINVAR

Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.110 CausalMutation 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: 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: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 CausalMutation CLINVAR

Entrez Id: 7358
Gene Symbol: UGDH
UGDH
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 CausalMutation CLINVAR

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

Entrez Id: 10869
Gene Symbol: USP19
USP19
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 CausalMutation CLINVAR

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

Entrez Id: 8936
Gene Symbol: WASF1
WASF1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 CausalMutation CLINVAR

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 GeneticVariation CLINVAR

Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 GeneticVariation CLINVAR

Entrez Id: 283692
Gene Symbol: CPEB1-AS1
CPEB1-AS1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 GeneticVariation CLINVAR

Entrez Id: 6660
Gene Symbol: SOX5
SOX5
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 GeneticVariation CLINVAR

Entrez Id: 8099
Gene Symbol: CDK2AP1
CDK2AP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 GeneticVariation CLINVAR