Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.420 Biomarker disease CTD_human KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407 2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.410 Biomarker disease CTD_human Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. 22264704 2012
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		0.400 Biomarker disease CTD_human Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. 27666370 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.400 Biomarker disease CTD_human Mitochondrial DNA damage and the involvement of antioxidant defense and repair system in hippocampi of rats with chronic seizures. 20446108 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.400 Biomarker disease CTD_human POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. 20138553 2010
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.400 Biomarker disease CTD_human Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5 		0.400 Biomarker disease CTD_human A thallium transport FLIPR-based assay for the identification of KCC2-positive modulators. 20086212 2010
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.400 Biomarker disease CTD_human Increased seizure severity and seizure-related death in mice lacking HCN1 channels. 20384728 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 Biomarker disease CTD_human Novel variants identified in methyl-CpG-binding domain genes in autistic individuals. 19921286 2010
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.400 Biomarker disease CTD_human The pattern of ATP-sensitive K+ channel subunits, Kir6.2 and SUR1 mRNA expressions in DG region is different from those in CA1-3 regions of chronic epilepsy induced by picrotoxin in rats. 18021373 2007
Entrez Id: 2593
Gene Symbol: GAMT
GAMT 		0.400 Biomarker disease CTD_human Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. 15651030 2005
Entrez Id: 3630
Gene Symbol: INS
INS 		0.400 Biomarker disease CTD_human Trimethoprim-sulfamethoxazole induced prolonged hypoglycemia in an infant with MHC class II deficiency: diazoxide as a treatment option. 14714756 2003
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.400 Biomarker disease CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.400 Biomarker disease CTD_human Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.400 Biomarker disease CTD_human GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998
Entrez Id: 3630
Gene Symbol: INS
INS 		0.400 Biomarker disease CTD_human Drug-induced convulsions. Report from Boston Collaborative Drug Surveillance Program. 4115818 1972
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		0.310 Biomarker disease CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.310 Biomarker disease CTD_human Expression profiles of hippocampal regenerative sprouting-related genes and their regulation by E-64d in a developmental rat model of penicillin-induced recurrent epilepticus. 23266720 2013
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4 		0.310 Biomarker disease CTD_human Novel seizure phenotype and sleep disruptions in knock-in mice with hypersensitive alpha 4* nicotinic receptors. 16339034 2005
Entrez Id: 3569
Gene Symbol: IL6
IL6 		0.310 Biomarker disease CTD_human Low doses of kainic acid (5 mg/kg) that produced little or no behavioral or electroencephalogram (EEG) alterations in wild type or glial fibrillary acidic protein (GFAP)-TNF animals induced severe tonic-clonic seizures and death in GFAP-IL6 transgenic mice of 2 or 6 months of age. 12836160 2003
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4 		0.310 Biomarker disease CTD_human Genetic and pharmacological strategies identify a behavioral function of neuronal nicotinic receptors. 10942032 2000
Entrez Id: 2891
Gene Symbol: GRIA2
GRIA2 		0.300 Biomarker disease GENOMICS_ENGLAND AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. 31300657 2019
Entrez Id: 116
Gene Symbol: ADCYAP1
ADCYAP1 		0.300 Biomarker disease CTD_human IL-6 knockout mice are protected from cocaine-induced kindling behaviors; possible involvement of JAK2/STAT3 and PACAP signalings. 29673861 2018
Entrez Id: 23209
Gene Symbol: MLC1
MLC1 		0.300 Biomarker disease GENOMICS_ENGLAND Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts. 29466841 2018
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		0.300 Biomarker disease CTD_human Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017