DisGeNET - a database of gene-disease associations

KCNA2, potassium voltage-gated channel subfamily A member 2, 3737

N. diseases: 111; N. variants: 11

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 ×

Variant: rs786205232 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C4225350
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32

0.800

CausalMutation

CLINVAR

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

27733563

2016

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

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

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

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

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C4225350
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32

0.800

GeneticVariation

UNIPROT