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:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

The channelopathies: novel insights into molecular and genetic mechanisms of human disease.

16075038

2005

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

How does voltage open an ion channel?

16704338

2006

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Contribution of the S4 segment to gating charge in the Shaker K+ channel.

8663993

1996

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:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

The voltage-gated potassium channels and their relatives.

12214225

2002

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

The channelopathies: novel insights into molecular and genetic mechanisms of human disease.

16075038

2005

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:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Contrasting subcellular localization of the Kv1.2 K+ channel subunit in different neurons of rat brain.

8158277

1994

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Determination of the subunit stoichiometry of a voltage-activated potassium channel.

1706481

1991

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Contrasting subcellular localization of the Kv1.2 K+ channel subunit in different neurons of rat brain.

8158277

1994

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Histidine scanning mutagenesis of basic residues of the S4 segment of the shaker k+ channel.

11331357

2001

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

An essential 'set' of K+ channels conserved in flies, mice and humans.

1377421

1992

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:	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

How does voltage open an ion channel?

16704338

2006

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

A proton pore in a potassium channel voltage sensor reveals a focused electric field.

14765197

2004

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

De novo KCNA2 mutations cause hereditary spastic paraplegia.

28032718

2017

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:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

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

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Histidine scanning mutagenesis of basic residues of the S4 segment of the shaker k+ channel.

11331357

2001

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Determination of the subunit stoichiometry of a voltage-activated potassium channel.

1706481

1991

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Reply.

28019717

2017

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Reply.

28019717

2017

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:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Contributions of Kv1.2, Kv1.5 and Kv2.1 subunits to the native delayed rectifier K(+) current in rat mesenteric artery smooth muscle cells.

12127166

2002