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: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
T 0.800 CausalMutation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563 2016
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
T 0.800 CausalMutation CLINVAR Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152 2015
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
T 0.800 CausalMutation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
dbSNP: rs876657389
rs876657389
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
A 0.800 CausalMutation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
dbSNP: rs876657389
rs876657389
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.800 GeneticVariation UNIPROT De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
dbSNP: rs876657389
rs876657389
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.800 GeneticVariation UNIPROT Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152 2015
dbSNP: rs876657390
rs876657390
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.800 GeneticVariation UNIPROT De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
dbSNP: rs876657390
rs876657390
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.800 GeneticVariation UNIPROT Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152 2015
dbSNP: rs786205231
rs786205231
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
G 0.800 CausalMutation CLINVAR
dbSNP: rs786205231
rs786205231
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.800 GeneticVariation UNIPROT
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.800 GeneticVariation UNIPROT
dbSNP: rs876657390
rs876657390
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
A 0.800 CausalMutation CLINVAR
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