DisGeNET - a database of gene-disease associations

Congenital long QT syndrome, C1141890

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs199472990

KCNH2

0.700

CausalMutation

CLINVAR

Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.

29431731

2018

dbSNP:

rs199473394

KCNQ1

0.700

CausalMutation

CLINVAR

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

29532034

2018

dbSNP:

rs199472910

KCNH2

0.700

GeneticVariation

CLINVAR

Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.

27816319

2017

dbSNP:

rs199472990

KCNH2

0.700

CausalMutation

CLINVAR

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

28349240

2017

dbSNP:

rs199473394

KCNQ1

0.700

CausalMutation

CLINVAR

Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.

28944242

2017

dbSNP:

rs12720458

KCNQ1

0.700

GeneticVariation

CLINVAR

Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

27831900

2016

dbSNP:

rs199472910

KCNH2

0.700

GeneticVariation

CLINVAR

Impact of Updated Diagnostic Criteria for Long QT Syndrome on Clinical Detection of Diseased Patients: Results From a Study of Patients Carrying Gene Mutations.

29766885

2016

dbSNP:

rs199472990

KCNH2

0.700

CausalMutation

CLINVAR

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

26669661

2016

dbSNP:

rs199473394

KCNQ1

0.700

CausalMutation

CLINVAR

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

27041150

2016

dbSNP:

rs199473394

KCNQ1

0.700

CausalMutation

CLINVAR

Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

27831900

2016

dbSNP:

rs199473538

KCNH2

0.700

GeneticVariation

CLINVAR

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

26669661

2016

dbSNP:

rs794728568

KCNQ1

0.700

GeneticVariation

CLINVAR

Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

27485560

2016

dbSNP:

rs794728568

KCNQ1

0.700

GeneticVariation

CLINVAR

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

26669661

2016

dbSNP:

rs794728568

KCNQ1

0.700

GeneticVariation

CLINVAR

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

27041150

2016

dbSNP:

rs12720458

KCNQ1

0.700

GeneticVariation

CLINVAR

Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.

26546361

2015

dbSNP:

rs151344631

KCNQ1

0.700

CausalMutation

CLINVAR

Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1.

25444851

2015

dbSNP:

rs199473394

KCNQ1

0.700

CausalMutation

CLINVAR

Long QT syndrome with mutations in three genes: A rare case.

25935074

2015

dbSNP:

rs199473428

KCNH2

0.700

GeneticVariation

CLINVAR

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

26187847

2015

dbSNP:

rs199473538

KCNH2

0.700

GeneticVariation

CLINVAR

The enigmatic cytoplasmic regions of KCNH channels.

25158096

2015

dbSNP:

rs397508118

KCNQ1

0.700

CausalMutation

CLINVAR

Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome.

24666684

2015

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

26187847

2015

dbSNP:

rs137854601

SCN5A

0.700

CausalMutation

CLINVAR

High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.

24871449

2014

dbSNP:

rs151344631

KCNQ1

0.700

CausalMutation

CLINVAR

LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function.

23844633

2014

dbSNP:

rs199472815

KCNQ1

0.700

GeneticVariation

CLINVAR

Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.

25453094

2014

dbSNP:

rs199472910

KCNH2

0.700

GeneticVariation

CLINVAR

Congenital long QT syndrome with compound mutations in the KCNH2 gene.

24057343

2014