Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 CausalMutation CLINVAR Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. 28806457

2017
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 CausalMutation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397

2017
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 GeneticVariation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397

2017
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 GeneticVariation CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636

2017
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 CausalMutation CLINVAR De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. 26477325

2015
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 CausalMutation CLINVAR De novo KCNB1 mutations in epileptic encephalopathy. 25164438

2014
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 GeneticVariation CLINVAR De novo KCNB1 mutations in epileptic encephalopathy. 25164438

2014
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.150 CausalMutation CLINVAR

Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.150 GeneticVariation CLINVAR

Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636

2017
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397

2017
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 CausalMutation CLINVAR

Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397

2017
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636

2017
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.100 GeneticVariation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397

2017
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.100 GeneticVariation CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636

2017
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Novel KCNB1 mutation associated with non-syndromic intellectual disability. 27928161

2017
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C4022901
Disease: Low CSF 5-methyltetrahydrofolate
Low CSF 5-methyltetrahydrofolate 		0.100 GeneticVariation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397

2017
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C4022901
Disease: Low CSF 5-methyltetrahydrofolate
Low CSF 5-methyltetrahydrofolate 		0.100 GeneticVariation CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636

2017
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 27652284

2016
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. 26477325

2015
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De novo KCNB1 mutations in epileptic encephalopathy. 25164438

2014
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Kv2.1: a voltage-gated k+ channel critical to dynamic control of neuronal excitability. 15950285

2005