Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
CUI: C4015119
Disease: 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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
CUI: C4015119
Disease: 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
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation 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
0.700 CausalMutation CLINVAR Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. 28806457 2017
Low CSF 5-methyltetrahydrofolate
CUI: C4022901
Disease: Low CSF 5-methyltetrahydrofolate
0.700 GeneticVariation CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation 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
0.700 GeneticVariation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397 2017
Low CSF 5-methyltetrahydrofolate
CUI: C4022901
Disease: Low CSF 5-methyltetrahydrofolate
0.700 GeneticVariation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397 2017
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.700 GeneticVariation CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636 2017
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.700 GeneticVariation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397 2017
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636 2017
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.700 CausalMutation CLINVAR