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: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. 29033053

2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Low extracellular potassium prolongs repolarization and evokes early afterdepolarization in human induced pluripotent stem cell-derived cardiomyocytes. 28619993

2017
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes. 27485560

2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Probability of diagnosing long QT syndrome in children and adolescents according to the criteria of the HRS/EHRA/APHRS expert consensus statement. 27026747

2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity? 27041096

2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation 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: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Molecular pathogenesis of long QT syndrome type 1. 27761162

2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1. 26318259

2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 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: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity? 27041096

2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. 26159999

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR PIP₂-dependent coupling is prominent in Kv7.1 due to weakened interactions between S4-S5 and S6. 25559286

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation 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: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome. 26675252

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. 25705178

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2. 26346102

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia. 24372464

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Genetic analysis, in silico prediction, and family segregation in long QT syndrome. 24667783

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 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: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. 25705178

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome. 26675252

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015