Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.450 Biomarker GENOMICS_ENGLAND

Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.450 Biomarker GENOMICS_ENGLAND

Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.440 Biomarker GENOMICS_ENGLAND

Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 Biomarker GENOMICS_ENGLAND

Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 Biomarker GENOMICS_ENGLAND

Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 Biomarker GENOMICS_ENGLAND

Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 Biomarker GENOMICS_ENGLAND

Entrez Id: 1106
Gene Symbol: CHD2
CHD2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 Biomarker GENOMICS_ENGLAND

Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 Biomarker GENOMICS_ENGLAND

Entrez Id: 23334
Gene Symbol: SZT2
SZT2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.420 Biomarker GENOMICS_ENGLAND Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum. 28893434

2018

Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.420 Biomarker GENOMICS_ENGLAND A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy. 27743886

2017

Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.420 Biomarker GENOMICS_ENGLAND De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. 24115232

2014

Entrez Id: 23334
Gene Symbol: SZT2
SZT2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.420 Biomarker GENOMICS_ENGLAND Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. 23932106

2013

Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 5277
Gene Symbol: PIGA
PIGA
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 16
Gene Symbol: AARS
AARS
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 348980
Gene Symbol: HCN1
HCN1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.410 Biomarker GENOMICS_ENGLAND