DisGeNET - a database of gene-disease associations

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

N. diseases: 111; N. variants: 11

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:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

26648591

2016

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

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

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

26648591

2016

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

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

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

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

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

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

dbSNP:

rs886041761

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

27543892

2016

dbSNP:

rs886041761

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C4225350
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32

0.700

CausalMutation

CLINVAR

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

27543892

2016

dbSNP:

rs886041761

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

26648591

2016

dbSNP:

rs886041761

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.

27117551

2016

dbSNP:

rs886041761

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

27733563

2016

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

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

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

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:	C0026827
Disease:

Muscle hypotonia

0.700

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:	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

dbSNP:

rs886041761

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

25477152

2015

dbSNP:

rs886041761

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

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:	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

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

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

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

A new Kv1.2 channelopathy underlying cerebellar ataxia.

20696761

2010

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

A new Kv1.2 channelopathy underlying cerebellar ataxia.

20696761

2010

dbSNP:

rs886041761

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

A new Kv1.2 channelopathy underlying cerebellar ataxia.

20696761

2010

dbSNP:

rs886041761

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

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

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Seizures and reduced life span in mice lacking the potassium channel subunit Kv1.2, but hypoexcitability and enlarged Kv1 currents in auditory neurons.

17634333

2007

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Seizures and reduced life span in mice lacking the potassium channel subunit Kv1.2, but hypoexcitability and enlarged Kv1 currents in auditory neurons.

17634333

2007