DisGeNET - a database of gene-disease associations

KCNC3, potassium voltage-gated channel subfamily C member 3, 3748

N. diseases: 58; 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:

rs104894699

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.820

GeneticVariation

UNIPROT

Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.

25756792

2015

dbSNP:

rs104894699

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.820

GeneticVariation

UNIPROT

These results are specific to the KCNC3(R420H) allele and provide new insight into the molecular basis of disease manifestation in SCA13.

25152487

2014

dbSNP:

rs104894699

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.820

GeneticVariation

BEFREE

These results are specific to the KCNC3(R420H) allele and provide new insight into the molecular basis of disease manifestation in SCA13.

25152487

2014

dbSNP:

rs104894699

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.820

GeneticVariation

BEFREE

The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring.

23912307

2013

dbSNP:

rs104894699

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.820

GeneticVariation

UNIPROT

Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface.

23734863

2013

dbSNP:

rs104894699

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.820

GeneticVariation

UNIPROT

Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.

22289912

2012

dbSNP:

rs104894699

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.820

GeneticVariation

UNIPROT

Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).

21479265

2011

dbSNP:

rs104894699

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.820

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

20050888

2010

dbSNP:

rs104894699

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.820

GeneticVariation

UNIPROT

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.

19953606

2010

dbSNP:

rs104894699

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.820

GeneticVariation

UNIPROT

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.

16501573

2006

dbSNP:

rs104894699

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.820

CausalMutation

CLINVAR

dbSNP:

rs104894700

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.800

GeneticVariation

UNIPROT

Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.

25756792

2015

dbSNP:

rs104894700

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.800

GeneticVariation

UNIPROT

KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.

25152487

2014

dbSNP:

rs104894700

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.800

GeneticVariation

UNIPROT

Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface.

23734863

2013

dbSNP:

rs104894700

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.800

GeneticVariation

UNIPROT

Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.

22289912

2012

dbSNP:

rs104894700

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.800

GeneticVariation

UNIPROT

Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).

21479265

2011

dbSNP:

rs104894700

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.800

GeneticVariation

UNIPROT

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.

19953606

2010

dbSNP:

rs104894700

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.800

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

20050888

2010

dbSNP:

rs797044872

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.800

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

20050888

2010

dbSNP:

rs104894700

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.800

GeneticVariation

UNIPROT

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.

16501573

2006

dbSNP:

rs104894700

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.800

CausalMutation

CLINVAR

dbSNP:

rs797044872

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.800

CausalMutation

CLINVAR

dbSNP:

rs1460306526

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.700

GeneticVariation

UNIPROT

Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.

25756792

2015

dbSNP:

rs549394447

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.700

GeneticVariation

UNIPROT

Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.

25756792

2015

dbSNP:

rs778523009

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

CUI:	C1854488
Disease:

Spinocerebellar ataxia 13

0.700

GeneticVariation

UNIPROT

Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.

25756792

2015