Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0040822
Disease:
Tremor 		0.010 GeneticVariation BEFREE KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln) in a girl with EE, ataxia, and tremor. 27733563 2016
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0543888
Disease:
Epileptic encephalopathy 		0.010 GeneticVariation BEFREE KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln) in a girl with EE, ataxia, and tremor. 27733563 2016
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0007758
Disease:
Cerebellar Ataxia 		0.010 GeneticVariation BEFREE Follow-up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID. 27543892 2016
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0034152
Disease:
Henoch-Schoenlein Purpura 		0.010 GeneticVariation BEFREE We identified a recurrent mutation in KCNA2 (c.881G>A, p.R294H), encoding the voltage-gated K(+) -channel, KV 1.2, in two unrelated families with HSP, intellectual disability (ID), and ataxia. 27543892 2016
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0004134
Disease:
Ataxia 		0.010 GeneticVariation BEFREE Follow-up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID. 27543892 2016
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Follow-up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID. 27543892 2016
dbSNP: rs763353895
rs763353895
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		A 0.700 CausalMutation CLINVAR Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. 27457812 2017
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 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
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718 2017
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718 2017
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
Muscle hypotonia 		T 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
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Reply. 28019717 2017
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Reply. 28019717 2017
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. 27062609 2017
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Reply. 28019717 2017
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		T 0.700 CausalMutation CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718 2017
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718 2017
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563 2016
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563 2016
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892 2016
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 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
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
Muscle hypotonia 		T 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
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892 2016