DisGeNET - a database of gene-disease associations

KCNJ2, potassium inwardly rectifying channel subfamily J member 2, 3759

N. diseases: 117; N. variants: 33

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:

rs104894575

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

16571646

2006

dbSNP:

rs104894575

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

11371347

2001

dbSNP:

rs104894575

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

BEFREE

We determined that WT and D71V AS mutant K<sub>IR</sub>2.1 channels are localized to the sarcolemma and the transverse tubules (T-tubules) of skeletal muscle fibers, while the ∆314-315 AS K<sub>IR</sub>2.1 mutation prevents proper trafficking of the homo- or hetero-meric channel complexes.

29018970

2018

dbSNP:

rs104894575

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

17324964

2007

dbSNP:

rs104894575

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

12163457

2002

dbSNP:

rs104894575

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.

12148092

2002

dbSNP:

rs104894575

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

CausalMutation

CLINVAR

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

CausalMutation

CLINVAR

Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion.

12909315

2003

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

GeneticVariation

UNIPROT

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

11371347

2001

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

CausalMutation

CLINVAR

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

11371347

2001

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

CausalMutation

CLINVAR

Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities.

17119796

2006

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

CausalMutation

CLINVAR

Phenotype variability in patients carrying KCNJ2 mutations.

22589293

2012

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

CausalMutation

CLINVAR

A family with Andersen-Tawil syndrome and dilated cardiomyopathy.

17074642

2006

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

GeneticVariation

UNIPROT

KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.

12148092

2002

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

CausalMutation

CLINVAR

Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.

17211524

2007

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

CausalMutation

CLINVAR

Genetic testing revealed a de novo heterozygous mutation (R218W) in KCNJ2 associated with ATS.

25415519

2014

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

CausalMutation

CLINVAR

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

16217063

2005

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

CausalMutation

CLINVAR

Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.

17568571

2007

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

CausalMutation

CLINVAR

Andersen-Tawil syndrome: an ever-expanding phenotype?

17074643

2006

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

CausalMutation

CLINVAR

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

12796536

2003

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

GeneticVariation

UNIPROT

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

12163457

2002

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

GeneticVariation

UNIPROT

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

16571646

2006

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

CausalMutation

CLINVAR

Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.

17221872

2007

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

GeneticVariation

UNIPROT

Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

17324964

2007

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1865018
Disease:

Short QT Syndrome 3

0.700

CausalMutation

CLINVAR

Phenotype variability in patients carrying KCNJ2 mutations.

22589293

2012