Source: ALL
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
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone. 6965523 1980
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 GeneticVariation CLINVAR Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone. 6965523 1980
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 GeneticVariation CLINVAR Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 8327138 1993
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 8327138 1993
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 GeneticVariation CLINVAR A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. 9425895 1998
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR A potassium channel mutation in neonatal human epilepsy. 9430594 1998
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 GeneticVariation CLINVAR A potassium channel mutation in neonatal human epilepsy. 9430594 1998
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. 9425895 1998
Movement Disorders
CUI: C0026650
Disease: 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
CUI: C0026827
Disease: 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
CUI: C0026650
Disease: 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
CUI: C0026827
Disease: 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
CUI: C0026827
Disease: 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
CUI: C0026650
Disease: 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
CUI: C0026650
Disease: 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
CUI: C0026827
Disease: 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
CUI: C0026650
Disease: 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
CUI: C0026827
Disease: 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
CUI: C0026650
Disease: 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
CUI: C0026827
Disease: 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
CUI: C0026827
Disease: 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
CUI: C0026650
Disease: Movement Disorders
0.700 GeneticVariation CLINVAR Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. 16829045 2006