DisGeNET - a database of gene-disease associations

KCNH2, potassium voltage-gated channel subfamily H member 2, 3757

N. diseases: 189; N. variants: 386

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:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

BEFREE

Confocal analyses of cells expressing the trafficking-deficient LQT2 channel G601S showed that the microtubule-dependent ER compartment is the transitional ER.

23864605

2013

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

21810866

2011

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

CausalMutation

CLINVAR

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

19841300

2009

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

19716085

2009

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

CausalMutation

CLINVAR

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

19716085

2009

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

CausalMutation

CLINVAR

Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.

18441445

2008

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

CausalMutation

CLINVAR

Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.

18752142

2008

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.

16361248

2006

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

16922724

2006

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

BEFREE

We found that the Y652C substitution, and to lesser extent the Y652S substitution, resulted in intragenic suppression of the class 2 LQT2 G601S phenotype; these substitutions increased Golgi processing of G601S channel proteins.

15851652

2005

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.

12621127

2003

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

BEFREE

Thapsigargin selectively rescues the trafficking defective LQT2 channels G601S and F805C.

12837749

2003

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.

12062363

2002

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

12442276

2002

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.

11170080

2001

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

10973849

2000

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

CausalMutation

CLINVAR

Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.

10862094

2000

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

The dominant negative LQT2 mutation A561V reduces wild-type HERG expression.

10753933

2000

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.

10735633

2000

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.

10187793

1999

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

GeneticVariation

UNIPROT

Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.

10517660

1999

dbSNP:

rs199472936

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C3150943
Disease:

Long Qt Syndrome 2

0.830

CausalMutation

CLINVAR

Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.

10483966

1999