| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
0.700 | GeneticVariation | CLINVAR | ||||||||
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
0.700 | GeneticVariation | CLINVAR | ||||||||
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. | 29129156 | 2017 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. | 29129156 | 2017 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. | 9425895 | 1998 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. | 9425895 | 1998 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | A potassium channel mutation in neonatal human epilepsy. | 9430594 | 1998 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | A potassium channel mutation in neonatal human epilepsy. | 9430594 | 1998 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. | 23621294 | 2013 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. | 23621294 | 2013 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. | 10781098 | 2000 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. | 10781098 | 2000 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior. | 15608631 | 2005 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior. | 15608631 | 2005 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. | 17675531 | 2007 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. | 17675531 | 2007 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. | 23849776 | 2013 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. | 23849776 | 2013 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. | 26795593 | 2016 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. | 26795593 | 2016 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. | 24318194 | 2014 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. | 24318194 | 2014 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. | 24107868 | 2013 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. | 24107868 | 2013 |