Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.400 Biomarker disease CTD_human Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. 22264704 2012
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: 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: 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: 93183
Gene Symbol: PIGM
PIGM 		0.400 Biomarker disease CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
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: 6529
Gene Symbol: SLC6A1
SLC6A1 		0.400 Biomarker disease CTD_human Increased expression of gamma-aminobutyric acid transporter-1 in the forebrain of infant rats with corticotropin-releasing hormone-induced seizures but not in those with hyperthermia-induced seizures. 11074187 2000
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: 7248
Gene Symbol: TSC1
TSC1 		0.300 Biomarker disease CTD_human Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.300 Biomarker disease CTD_human Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017
Entrez Id: 3418
Gene Symbol: IDH2
IDH2 		0.300 Biomarker disease CTD_human A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model. 27469509 2016
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		0.300 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: 43
Gene Symbol: ACHE
ACHE 		0.300 Therapeutic disease CTD_human HI-6 assisted catalytic scavenging of VX by acetylcholinesterase choline binding site mutants. 27083141 2016
Entrez Id: 5580
Gene Symbol: PRKCD
PRKCD 		0.300 Biomarker disease CTD_human Protein kinase Cδ mediates trimethyltin-induced neurotoxicity in mice in vivo via inhibition of glutathione defense mechanism. 25895139 2016
Entrez Id: 43
Gene Symbol: ACHE
ACHE 		0.300 Biomarker disease CTD_human HI-6 assisted catalytic scavenging of VX by acetylcholinesterase choline binding site mutants. 27083141 2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL 		0.300 Biomarker disease CTD_human Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation. 27466191 2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL 		0.300 Therapeutic disease CTD_human Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation. 27466191 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.300 Biomarker disease CTD_human KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407 2016
Entrez Id: 2166
Gene Symbol: FAAH
FAAH 		0.300 Therapeutic disease CTD_human Enhancement of endocannabinoid signaling protects against cocaine-induced neurotoxicity. 25933444 2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		0.300 Biomarker disease CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
Entrez Id: 54886
Gene Symbol: PLPPR1
PLPPR1 		0.300 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: 348
Gene Symbol: APOE
APOE 		0.300 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: 38
Gene Symbol: ACAT1
ACAT1 		0.300 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: 7779
Gene Symbol: SLC30A1
SLC30A1 		0.300 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: 4504
Gene Symbol: MT3
MT3 		0.300 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