Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
0.800 CausalMutation CLINVAR Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. 28806457 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
0.800 CausalMutation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
0.800 GeneticVariation UNIPROT De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. 26477325 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
0.800 CausalMutation CLINVAR De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. 26477325 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
0.800 GeneticVariation UNIPROT A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization. 26503721 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
0.800 GeneticVariation UNIPROT De novo KCNB1 mutations in epileptic encephalopathy. 25164438 2014
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.700 CausalMutation CLINVAR
Myoclonic absences
CUI: C4023512
Disease: Myoclonic absences
0.700 GeneticVariation CLINVAR