Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.460 Biomarker GENOMICS_ENGLAND

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
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: 2257
Gene Symbol: FGF12
FGF12
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker GENOMICS_ENGLAND

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker GENOMICS_ENGLAND

Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker GENOMICS_ENGLAND "Reply to ""a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype""." 29377213

2018
Entrez Id: 9863
Gene Symbol: MAGI2
MAGI2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker GENOMICS_ENGLAND MAGI2 Mutations Cause Congenital Nephrotic Syndrome. 27932480

2017
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker GENOMICS_ENGLAND GABBR2 is a genetic factor that determines RTT- or EE-like phenotype expression depending on the variant positions. 28856709

2017
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker GENOMICS_ENGLAND A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. 14988809

2004
Entrez Id: 51133
Gene Symbol: KCTD3
KCTD3
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 Biomarker GENOMICS_ENGLAND Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.330 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.320 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 10243
Gene Symbol: GPHN
GPHN
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 Biomarker GENOMICS_ENGLAND Autozygome and high throughput confirmation of disease genes candidacy. 30237576

2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.450 Biomarker GENOMICS_ENGLAND By whole-exome sequencing and subsequent mutation screening, we identified de novo heterozygous mutations in GNAO1, which encodes a Gαo subunit of heterotrimeric G proteins, in four individuals with epileptic encephalopathy. 23993195

2013
Entrez Id: 5602
Gene Symbol: MAPK10
MAPK10
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 Biomarker GENOMICS_ENGLAND Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients. 23329067

2013
Entrez Id: 23258
Gene Symbol: DENND5A
DENND5A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.400 Biomarker GENOMICS_ENGLAND Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 27431290

2017
Entrez Id: 2257
Gene Symbol: FGF12
FGF12
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker GENOMICS_ENGLAND De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899

2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.440 Biomarker GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.400 Biomarker GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111

2013