Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 79944
Gene Symbol: L2HGDH
L2HGDH 		0.300 Biomarker disease CTD_human L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. 15385440 2004
Entrez Id: 5025
Gene Symbol: P2RX4
P2RX4 		0.300 Biomarker disease CTD_human Here we show that, in the seizure-sensitive (SS) gerbil hippocampus, a recognized genetic epilepsy model, the expressions of both P2X2 and P2X4 receptors are markedly decreased as compared with that in the seizure-resistant (SR) gerbil. 12941474 2003
Entrez Id: 22953
Gene Symbol: P2RX2
P2RX2 		0.300 Biomarker disease CTD_human Here we show that, in the seizure-sensitive (SS) gerbil hippocampus, a recognized genetic epilepsy model, the expressions of both P2X2 and P2X4 receptors are markedly decreased as compared with that in the seizure-resistant (SR) gerbil. 12941474 2003
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.300 Biomarker disease GENOMICS_ENGLAND FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. 8941379 1996
Entrez Id: 4985
Gene Symbol: OPRD1
OPRD1 		0.300 Biomarker disease CTD_human Mu- and delta-opioid receptor-mediated epileptoid responses in morphine-dependent and non-dependent rats. 2415332 1985
Entrez Id: 4988
Gene Symbol: OPRM1
OPRM1 		0.300 Biomarker disease CTD_human Mu- and delta-opioid receptor-mediated epileptoid responses in morphine-dependent and non-dependent rats. 2415332 1985
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12 		0.310 Biomarker disease GENOMICS_ENGLAND Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 30459466 2019
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: 5283
Gene Symbol: PIGH
PIGH 		0.310 Biomarker disease GENOMICS_ENGLAND Scanning exomes from 7,833 parent-child trios and 1,792 singletons from the DDD study for biallelic variants in this gene-set uncovered a rare PIGH variant in a boy with epilepsy, microcephaly, and behavioral difficulties. 29573052 2018
Entrez Id: 51114
Gene Symbol: ZDHHC9
ZDHHC9 		0.310 Biomarker disease GENOMICS_ENGLAND Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability. 29681091 2018
Entrez Id: 3751
Gene Symbol: KCND2
KCND2 		0.310 Biomarker disease GENOMICS_ENGLAND Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening. 29581270 2018
Entrez Id: 5813
Gene Symbol: PURA
PURA 		0.310 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.310 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.310 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		0.310 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3 		0.310 Biomarker disease GENOMICS_ENGLAND EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. 28055140 2017
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12 		0.310 Biomarker disease GENOMICS_ENGLAND Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. 27164683 2016
Entrez Id: 81562
Gene Symbol: LMAN2L
LMAN2L 		0.310 Biomarker disease GENOMICS_ENGLAND Whole exome sequencing (WES) of a trio, including a child with ID and epilepsy and its healthy parents that were part of this large family, revealed a homozygous missense variant p.R53Q in the lectin mannose-binding 2-like (LMAN2L) gene. 26566883 2016
Entrez Id: 27133
Gene Symbol: KCNH5
KCNH5 		0.310 Biomarker disease GENOMICS_ENGLAND In three children, the de novo variants were in genes with functional roles that are plausibly relevant to epilepsy (KCNH5, CLCN4, and ARHGEF15). 23647072 2013
Entrez Id: 10617
Gene Symbol: STAMBP
STAMBP 		0.310 Biomarker disease CTD_human Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. 23542699 2013
Entrez Id: 57038
Gene Symbol: RARS2
RARS2 		0.310 Biomarker disease GENOMICS_ENGLAND Pontocerebellar hypoplasia type 6: A British case with PEHO-like features. 20635367 2010
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B 		0.310 Biomarker disease CTD_human Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. 20159109 2010
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: 51294
Gene Symbol: PCDH12
PCDH12 		0.310 Biomarker disease GENOMICS_ENGLAND Protocadherin 12 deficiency alters morphogenesis and transcriptional profile of the placenta. 18477666 2008