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 Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. 11140949

2000
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus. 11162126

2001
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. 11216980

2001
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. 11530100

2001
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. 11668638

2001
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. 12051962

2002
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. 12402336

2002
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR KCNQ1 gain-of-function mutation in familial atrial fibrillation. 12522251

2003
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death. 12702160

2003
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death. 12702160

2003
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR The second mutation, V254M in KCNQ1, co-segregated with higher QT intervals and symptoms in other family members, and was previously reported in another LQTS family. 12820704

2003
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome). 14510661

2003
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. 14678125

2003
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. 14678125

2003
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. 14998624

2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Eighteen symptomatic LQTS patients (12 families) were genetically diagnosed as having heterozygous KCNQ1 variants and received beta-blocker therapy. 15028050

2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Compound mutations: a common cause of severe long-QT syndrome. 15051636

2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. 15176425

2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan. 15234419

2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642

2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642

2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Impaired KCNQ1-KCNE1 and phosphatidylinositol-4,5-bisphosphate interaction underlies the long QT syndrome. 15746441

2005
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 CausalMutation CLINVAR Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1). 15935335

2005