Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.900 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.650 GeneticVariation CLINVAR

Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.500 GeneticVariation GWASCAT Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. 30531953

2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.500 GeneticVariation GWASCAT Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. 25087078

2014
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.500 CausalMutation CLINVAR SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. 20956790

2010
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 GeneticVariation CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 GeneticVariation CLINVAR

Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.150 GeneticVariation CLINVAR

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.130 CausalMutation CLINVAR

Entrez Id: 4548
Gene Symbol: MTR
MTR
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.130 GeneticVariation CLINVAR

Entrez Id: 23271
Gene Symbol: CAMSAP2
CAMSAP2
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.120 GeneticVariation GWASCAT Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese. 22116939

2012
Entrez Id: 23271
Gene Symbol: CAMSAP2
CAMSAP2
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.120 GeneticVariation GWASDB Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese. 22116939

2012
Entrez Id: 57094
Gene Symbol: CPA6
CPA6
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.120 GeneticVariation CLINVAR

Entrez Id: 9734
Gene Symbol: HDAC9
HDAC9
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.110 GeneticVariation GWASCAT GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy. 26220383

2015
Entrez Id: 1131
Gene Symbol: CHRM3
CHRM3
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.110 GeneticVariation GWASCAT Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 22949513

2012
Entrez Id: 1131
Gene Symbol: CHRM3
CHRM3
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.110 GeneticVariation GWASDB Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 22949513

2012
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.110 CausalMutation CLINVAR

Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.110 GeneticVariation CLINVAR

Entrez Id: 22884
Gene Symbol: WDR37
WDR37
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.110 GeneticVariation CLINVAR

Entrez Id: 56944
Gene Symbol: OLFML3
OLFML3
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation GWASCAT A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine. 30868120

2019
Entrez Id: 83875
Gene Symbol: BCO2
BCO2
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation GWASCAT A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine. 30868120

2019
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation GWASCAT Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. 30531953

2018
Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation CLINVAR In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 28027978

2017
Entrez Id: 127833
Gene Symbol: SYT2
SYT2
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation GWASCAT GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy. 26220383

2015
Entrez Id: 100861552
Gene Symbol: LINC00558
LINC00558
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation GWASCAT GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy. 26220383

2015