Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 CausalMutation CLINVAR Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations. 29532034

2018
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 CausalMutation CLINVAR Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity. 29431731

2018
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 CausalMutation CLINVAR Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia. 28944242

2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation CLINVAR Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes. 27485560

2016
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 CausalMutation CLINVAR Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 27831900

2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation CLINVAR Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 27831900

2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 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
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 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
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation CLINVAR The enigmatic cytoplasmic regions of KCNH channels. 25158096

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation CLINVAR Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. 26546361

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 CausalMutation CLINVAR Long QT syndrome with mutations in three genes: A rare case. 25935074

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 CausalMutation CLINVAR Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome. 24666684

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation CLINVAR Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue. 25453094

2014
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 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
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation CLINVAR Congenital long QT syndrome with compound mutations in the KCNH2 gene. 24057343

2014
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 GeneticVariation CLINVAR Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. 24606995

2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.200 CausalMutation CLINVAR High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands. 24871449

2014