Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6821
Gene Symbol: SUOX
SUOX
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5020
Gene Symbol: OXT
OXT
0.300 Biomarker phenotype CTD_human "Oxytocin, ""salting out,"" and water intoxication." 5067144 1972
Entrez Id: 18
Gene Symbol: ABAT
ABAT
0.300 Biomarker phenotype CTD_human 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. 10407778 1999
Entrez Id: 4842
Gene Symbol: NOS1
NOS1
0.300 Biomarker phenotype CTD_human 7-Nitro indazole, an inhibitor of neuronal nitric oxide synthase, attenuates pilocarpine-induced seizures. 8749039 1995
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
0.100 Biomarker phenotype BEFREE PKC and a related disorder in which infantile convulsions are associated (ICCA syndrome) have recently been linked to the pericentromic region of chromososme 16 in the vicinity of some ion channel genes. 11346027 2001
Entrez Id: 5578
Gene Symbol: PRKCA
PRKCA
0.010 Biomarker phenotype BEFREE PKC and a related disorder in which infantile convulsions are associated (ICCA syndrome) have recently been linked to the pericentromic region of chromososme 16 in the vicinity of some ion channel genes. 11346027 2001
Entrez Id: 5579
Gene Symbol: PRKCB
PRKCB
0.010 Biomarker phenotype BEFREE PKC and a related disorder in which infantile convulsions are associated (ICCA syndrome) have recently been linked to the pericentromic region of chromososme 16 in the vicinity of some ion channel genes. 11346027 2001
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
0.010 Biomarker phenotype BEFREE Dihydropyrimidine dehydrogenase (DPD) deficiency is an infrequently described autosomal recessive disorder of the pyrimidine degradation pathway and can lead to mental and motor retardation and convulsions. 19296131 2009
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
0.010 Biomarker phenotype BEFREE SCN1B is not related to benign partial epilepsy in infancy or convulsions with gastroenteritis. 21882141 2011
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
0.100 GeneticVariation phenotype BEFREE PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 22243967 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
0.100 Biomarker phenotype BEFREE PRRT2 is the gene recently associated with paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, and choreoathetosis infantile convulsions. 22845787 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
0.100 GeneticVariation phenotype BEFREE PRRT2 mutations have recently been shown to cause various childhood-onset episodic syndromes including paroxysmal kinesigenic dyskinesia, infantile convulsions with choreoathetosis syndrome, and benign familial infantile epilepsy. 23077016 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
0.100 Biomarker phenotype BEFREE PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. 23077017 2012
Entrez Id: 114327
Gene Symbol: EFHC1
EFHC1
0.010 GeneticVariation phenotype BEFREE EFHC1 variants are the most common mutations in inherited myoclonic and grand mal clonic-tonic-clonic (CTC) convulsions of juvenile myoclonic epilepsy (JME). 27467453 2017
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
0.010 AlteredExpression phenotype BEFREE Col6a3 expression correlated with handling-induced convulsions in mice. 28226201 2017
Entrez Id: 952
Gene Symbol: CD38
CD38
0.010 AlteredExpression phenotype BEFREE CD38 and cADPR levels increased significantly following ropivacaine-induced convulsion (P = 0.031 and 0.020, respectively, compared with the sham group). 28937043 2017
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
0.100 GeneticVariation phenotype BEFREE PRRT2 gene mutations cause paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions, hemiplegic migraine, and episodic ataxia. 30501978 2019
Entrez Id: 79412
Gene Symbol: KREMEN2
KREMEN2
0.010 Biomarker phenotype BEFREE KRM-II-81 suppressed convulsions in corneal kindled mice. 31694876 2020
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
0.010 Biomarker phenotype BEFREE Platelet-derived growth factor B-chain homodimer suppressing a convulsion of epilepsy model mouse El. 8660379 1996
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
0.300 Biomarker phenotype CTD_human A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. 18627055 2008
Entrez Id: 3786
Gene Symbol: KCNQ3
KCNQ3
0.010 Biomarker phenotype BEFREE A gene that might play a role in the convulsions of our patients is KCNQ3. 19464398 2009
Entrez Id: 5020
Gene Symbol: OXT
OXT
0.300 Biomarker phenotype CTD_human A generalized epileptiform convulsion after intra-amniotic prostaglandin with intravenous oxytocin infusion: a case report. 644406 1978
Entrez Id: 1571
Gene Symbol: CYP2E1
CYP2E1
0.020 AlteredExpression phenotype BEFREE A higher incidence of convulsions and loss of the righting reflex, and decreased rates of survival, as well as elevated CYP2E1 activity, were observed in diabetic rats treated with AN when compared to those in non-diabetic rats, suggesting that diabetes confers susceptibility to the acute toxicity of AN. 31258002 2019
Entrez Id: 5580
Gene Symbol: PRKCD
PRKCD
0.310 Biomarker phenotype BEFREE A prospective study of all 93 eclamptic women admitted to a general hospital in Somali regional state, Ethiopia was conducted between May 1, 2014 and April 30, 2015 using a structured questionnaire which included socio-demographic data, antenatal visit status, distance of nearest maternal health facility, timing of convulsions, questions related to symptoms preceding seizures; health care seeking for the symptoms and time interval from prodromal symptoms to the diagnosis of eclampsia. 28288576 2017
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.300 Biomarker phenotype CTD_human A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model. 27469509 2016