Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 CausalMutation disease CLINVAR Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. 28806457 2017
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 CausalMutation disease CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397 2017
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 GeneticVariation disease CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397 2017
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 GeneticVariation disease CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636 2017
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 CausalMutation disease CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 GeneticVariation disease UNIPROT De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. 26477325 2015
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 CausalMutation disease CLINVAR De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. 26477325 2015
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 GeneticVariation disease UNIPROT A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization. 26503721 2015
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 CausalMutation disease CLINVAR De novo KCNB1 mutations in epileptic encephalopathy. 25164438 2014
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 Biomarker disease GENOMICS_ENGLAND De novo KCNB1 mutations in epileptic encephalopathy. 25164438 2014
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 GeneticVariation disease CLINVAR De novo KCNB1 mutations in epileptic encephalopathy. 25164438 2014
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 GeneticVariation disease UNIPROT De novo KCNB1 mutations in epileptic encephalopathy. 25164438 2014
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 Biomarker disease CTD_human
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease CTD_human Our study demonstrates the involvement of AMIGO-Kv2.1 channel complex in schizophrenia-related behavioral domains in mice and identifies KV2.1 (KCNB1) as a strong susceptibility gene for schizophrenia spectrum disorders in humans. 26240432 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease BEFREE Our study demonstrates the involvement of AMIGO-Kv2.1 channel complex in schizophrenia-related behavioral domains in mice and identifies KV2.1 (KCNB1) as a strong susceptibility gene for schizophrenia spectrum disorders in humans. 26240432 2016
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		0.300 Biomarker phenotype CTD_human Decreased expression of voltage-gated K+ channels in pulmonary artery smooth muscles cells in nitrofen-induced congenital diaphragmatic hernia in rats. 15088113 2004
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.150 GeneticVariation disease BEFREE Five KCNB1 mutants (L211P, R312H G379R, G381R, and F416L) linked to severe infancy or early-onset epileptic encephalopathy exhibited markedly defective conduction. 31682765 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.150 GeneticVariation disease BEFREE Despite the lack of prenatally described cases, we hypothesized that maldevelopment of lateral brain ventriculomegaly could be very early sonographic sign of disturbed ADNP expression causing Helsmoortel-Van der Aa syndrome, but in some extent also of KCNB1 related early-onset epileptic encephalopathy. 28807863 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.150 GeneticVariation disease BEFREE Recently, de novo heterozygous missense KCNB1 mutations have been identified in three patients with epileptic encephalopathy and a patient with neurodevelopmental disorder. 26477325 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.150 GeneticVariation disease BEFREE A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization. 26503721 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.150 GeneticVariation disease BEFREE Our genetic and functional evidence demonstrate that KCNB1 mutation can result in early onset epileptic encephalopathy. 25164438 2014
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.150 CausalMutation disease CLINVAR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.150 GeneticVariation disease CLINVAR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.150 Biomarker disease HPO