Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 ×
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: 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: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		T 0.700 CausalMutation CLINVAR A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892 2016
dbSNP: rs1064794738
rs1064794738
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553181280
rs1553181280
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553181282
rs1553181282
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553181301
rs1553181301
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553181323
rs1553181323
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		A 0.700 GeneticVariation CLINVAR