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 | ||||||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone. | 6965523 | 1980 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone. | 6965523 | 1980 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | Seizure characteristics in chromosome 20 benign familial neonatal convulsions. | 8327138 | 1993 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | Seizure characteristics in chromosome 20 benign familial neonatal convulsions. | 8327138 | 1993 | |||||
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 | Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. | 10323247 | 1999 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. | 10323247 | 1999 | |||||
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 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. | 11572947 | 2001 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. | 11572947 | 2001 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. | 12742592 | 2003 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. | 12742592 | 2003 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. | 14985406 | 2004 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. | 14985406 | 2004 | |||||
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 | Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. | 16829045 | 2006 | |||||
Movement Disorders
|
0.700 | GeneticVariation | CLINVAR | Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. | 16829045 | 2006 |