rs786205232, KCNA2

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.800 CausalMutation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.800 CausalMutation CLINVAR Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.800 CausalMutation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.800 GeneticVariation UNIPROT
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. 27062609 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. 27062609 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Reply. 28019717 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Reply. 28019717 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum. 27117551 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum. 27117551 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152 2015
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152 2015
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Effect of sensor domain mutations on the properties of voltage-gated ion channels: molecular dynamics studies of the potassium channel Kv1.2. 21044565 2010
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Effect of sensor domain mutations on the properties of voltage-gated ion channels: molecular dynamics studies of the potassium channel Kv1.2. 21044565 2010
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR A new Kv1.2 channelopathy underlying cerebellar ataxia. 20696761 2010