Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 79868
Gene Symbol: ALG13
ALG13
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.320 Biomarker GENOMICS_ENGLAND Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. 22492991

2012
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 Biomarker GENOMICS_ENGLAND X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071

2006
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: 9373
Gene Symbol: PLAA
PLAA
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 Biomarker GENOMICS_ENGLAND Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy. 28007986

2017
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: 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: 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: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 Biomarker GENOMICS_ENGLAND We report on the clinical and molecular characterization of a female patient with early-onset epileptic encephalopathy, who was found to carry a de novo novel splice site mutation in SMC1A. 26358754

2015
Entrez Id: 8021
Gene Symbol: NUP214
NUP214
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker GENOMICS_ENGLAND NUP214 deficiency causes severe encephalopathy and microcephaly in humans. 30758658

2019
Entrez Id: 6263
Gene Symbol: RYR3
RYR3
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker GENOMICS_ENGLAND De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014
Entrez Id: 23327
Gene Symbol: NEDD4L
NEDD4L
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111

2013
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: 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: 6263
Gene Symbol: RYR3
RYR3
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker GENOMICS_ENGLAND Novel West syndrome candidate genes in a Chinese cohort. 29667327

2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981

2017
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker GENOMICS_ENGLAND Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker GENOMICS_ENGLAND mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. 28892148

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