Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12 		0.310 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 57038
Gene Symbol: RARS2
RARS2 		0.310 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6505
Gene Symbol: SLC1A1
SLC1A1 		0.350 Biomarker disease CTD_human EAAC1 may participate in normal GABA neurosynthesis and limbic hyperexcitability, whereas epilepsy can result from a disruption of the interaction between EAAC1 and GABA metabolism. 12151515 2002
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.600 Biomarker disease CTD_human PCDH19 is expressed in developing brains of human and mouse and is the first member of the cadherin superfamily to be directly implicated in epilepsy or mental retardation. 18469813 2008
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.350 Therapeutic disease CTD_human ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized. 20708863 2011
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		0.400 Biomarker disease CTD_human Cntnap2(-/-) mice show deficits in the three core ASD behavioral domains, as well as hyperactivity and epileptic seizures, as have been reported in humans with CNTNAP2 mutations. 21962519 2011
Entrez Id: 4852
Gene Symbol: NPY
NPY 		0.400 Therapeutic disease CTD_human NPY in a dose of 2 mg (470 pmol), but not 1 mg, inhibited some excitatory effects of picrotoxin, but did not change the epileptic symptoms. 8868293 1996
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4 		0.320 Biomarker disease CLINGEN A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit. 9442082 1998
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4 		0.320 Biomarker disease CLINGEN A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. 18755274 2008
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12 		0.310 Biomarker disease GENOMICS_ENGLAND A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy. 29556033 2018
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		0.360 Biomarker disease CLINGEN A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 19763161 2009
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2 		0.400 Biomarker disease CTD_human Abnormal expressions of glutamate transporters and metabotropic glutamate receptor 1 in the spontaneously epileptic rat hippocampus. 19853022 2010
Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3 		0.320 Biomarker disease CTD_human Abnormal expressions of glutamate transporters and metabotropic glutamate receptor 1 in the spontaneously epileptic rat hippocampus. 19853022 2010
Entrez Id: 1129
Gene Symbol: CHRM2
CHRM2 		0.310 Biomarker disease CTD_human Acetylcholine-induced seizure-like activity and modified cholinergic gene expression in chronically epileptic rats. 18333967 2008
Entrez Id: 1128
Gene Symbol: CHRM1
CHRM1 		0.300 Biomarker disease CTD_human Acetylcholine-induced seizure-like activity and modified cholinergic gene expression in chronically epileptic rats. 18333967 2008
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		0.360 Therapeutic disease CTD_human Akt pathway activation and increased neuropeptide Y mRNA expression in the rat hippocampus: implications for seizure blockade. 20064661 2010
Entrez Id: 150
Gene Symbol: ADRA2A
ADRA2A 		0.300 Therapeutic disease CTD_human Alpha2A adrenergic receptor activation inhibits epileptiform activity in the rat hippocampal CA3 region. 17341653 2007
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		0.360 Biomarker disease CLINGEN Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder. 27504264 2016
Entrez Id: 392636
Gene Symbol: AGMO
AGMO 		0.300 Biomarker disease GENOMICS_ENGLAND Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. 31555905 2019
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		0.500 Biomarker disease GENOMICS_ENGLAND Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene. 15331424 2004
Entrez Id: 2876
Gene Symbol: GPX1
GPX1 		0.310 Biomarker disease CTD_human Changes in the expression of selenoproteins in mesial temporal lobe epilepsy patients. 19499324 2009
Entrez Id: 6415
Gene Symbol: SELENOW
SELENOW 		0.300 Biomarker disease CTD_human Changes in the expression of selenoproteins in mesial temporal lobe epilepsy patients. 19499324 2009
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1 		0.300 Biomarker disease CTD_human Changes in the expression of selenoproteins in mesial temporal lobe epilepsy patients. 19499324 2009
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.340 Biomarker disease GENOMICS_ENGLAND Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients. 30746764 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.400 Biomarker disease CTD_human Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma. 18716558 2008