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

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

27733563

2016

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

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

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel.

8663992

1996

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain.

8046438

1994

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

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:	C0026650
Disease:

Movement Disorders

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:	C0026650
Disease:

Movement Disorders

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:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

The structure of the potassium channel: molecular basis of K+ conduction and selectivity.

9525859

1998

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

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

Crystal structure of a mammalian voltage-dependent Shaker family K+ channel.

16002581

2005

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:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Voltage sensor of Kv1.2: structural basis of electromechanical coupling.

16002579

2005

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:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain.

8046438

1994

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

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:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

De novo KCNA2 mutations cause hereditary spastic paraplegia.

28032718

2017

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

The voltage-gated potassium channels and their relatives.

12214225

2002

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Crystal structure of a mammalian voltage-dependent Shaker family K+ channel.

16002581

2005

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel.

8663992

1996

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:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores.

15694325

2005

dbSNP:

rs786205232

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

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

8663993

1996