Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370521183
rs370521183
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs397515402
rs397515402
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		C 0.800 CausalMutation CLINVAR A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 29186148 2017
dbSNP: rs587777264
rs587777264
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs370521183
rs370521183
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs397515402
rs397515402
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. 26740507 2016
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 27652284 2016
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs397515407
rs397515407
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.800 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
dbSNP: rs587777264
rs587777264
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs587777264
rs587777264
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy. 26597493 2016
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313 2015
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR Mutations in KCNT1 cause a spectrum of focal epilepsies. 26122718 2015
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313 2015
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		C 0.800 CausalMutation CLINVAR Regional Specificity of GABAergic Regulation of Cross-Modal Plasticity in Mouse Visual Cortex after Unilateral Enucleation. 26269628 2015
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		C 0.800 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		C 0.800 CausalMutation CLINVAR Quinidine in the treatment of KCNT1-positive epilepsies. 26369628 2015
dbSNP: rs397515407
rs397515407
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.800 CausalMutation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313 2015
dbSNP: rs397515407
rs397515407
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.800 CausalMutation CLINVAR Mutations in KCNT1 cause a spectrum of focal epilepsies. 26122718 2015
dbSNP: rs587777264
rs587777264
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313 2015