Disease: Long QT Syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE Generation and characterization of twelve human induced pluripotent stem cell (iPSC) lines from four familial long QT syndrome type 1 (LQT1) patients carrying KCNQ1 c.1201dupC mutation. 31765965 2019
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE Coassembly of certain mutant KCNE1 monomers with wild-type KCNQ1 subunits results in RWS by a dominant negative mechanism. 30461122 2019
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE In this study, the non-integrational Sendai reprogramming method was used to express four Yamanaka factors and to generate induced pluripotent stem cell (iPSC) lines carrying the KCNQ1 c.1697C>A (p.S566Y) mutation from familial LQT1 patients. 31415974 2019
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 Biomarker disease GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308 2018
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE We generated hiPSCs from the peripheral blood mononuclear cells obtained from a patient with LQT1 carrying KCNQ1-A344Aspl. 29857160 2018
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE Sudden death in long-QT syndrome type 1 (LQT1), an inherited disease caused by loss-of-function mutations in KCNQ1, is triggered by early afterdepolarizations (EADs) that initiate polymorphic ventricular tachycardia (pVT). 29769222 2018
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease CLINVAR Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. 29033053 2018
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1. 28264985 2017
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 Biomarker disease BEFREE A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report. 28595573 2017
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 Biomarker disease BEFREE This was a retrospective review of 349 children with LQTS (mean age at diagnosis, 8.0 ± 5.7 years; mean corrected QT interval, 469 ± 51 ms; long QT syndrome type 1 [LQT1] in 46%, LQT2 in 31%, and LQT3 in 9%) evaluated from 2000 to 2013. 28416468 2017
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 Biomarker disease GENOMICS_ENGLAND Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis. 29097701 2017
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE In this prospective study, we report biallelic mutations in KCNQ1 in Indian patients with LQT1 syndrome. 27041150 2016
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE This genotype-phenotype correlation is analogous to that in KCNQ1 which causes autosomal dominant hereditary long QT syndrome 1 with milder phenotype and the autosomal recessive Jervell and Lange-Nielsen syndrome 1 with more severe phenotype due to deletion of the cytoplasmic C-terminus of the potassium channel. 26036578 2015
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease UNIPROT Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. 25705178 2015
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 Biomarker disease BEFREE From a LQT1 patient carrying a novel heterozygous exon7 deletion mutation of KCNQ1, we generated hiPSC-CMs that faithfully recapitulated the LQT1 phenotypes that are likely associated with haploinsufficiency and trafficking defect of KCNQ1/Kv7.1. 25889101 2015
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE We investigated mechanisms underlying how three LQT1 mutations in KCNQ1 C-terminus assembly domain (R555H/G589D/L619M) decrease IKs in heterologous cells and cardiomyocytes. 25344363 2014
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease UNIPROT A molecular mechanism for adrenergic-induced long QT syndrome. 24184248 2014
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE The study assesses complexity of the cardiac control directed to the sinus node and to ventricles in long QT syndrome type 1 (LQT1) patients with KCNQ1-A341V mutation. 24705789 2014
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease UNIPROT Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂. 25037568 2014
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease UNIPROT Mutations in KCNQ1, encoding for Kv7.1, the α-subunit of the IKs channel, cause long-QT syndrome type 1, potentially predisposing patients to ventricular tachyarrhythmias and sudden cardiac death, in particular, during elevated sympathetic tone. 25139741 2014
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease UNIPROT We identified a multigenerational LQT1 family whereby 79% of the patients genotype-positive for p.Ile235Asn-KCNQ1 (I235N-Kv7.1) have concealed LQT1. 24269949 2014
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE Novel KCNQ1 splicing mutation in patients with forme fruste LQT1 aggravated by hypokalemia. 24373870 2014
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease UNIPROT A590T mutation in KCNQ1 C-terminal helix D decreases IKs channel trafficking and function but not Yotiao interaction. 24713462 2014
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE We identified a multigenerational LQT1 family whereby 79% of the patients genotype-positive for p.Ile235Asn-KCNQ1 (I235N-Kv7.1) have concealed LQT1. 24269949 2014
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE Heterozygous mutations in KCNQ1 cause type 1 long QT syndrome (LQT1), a disease characterized by prolonged heart rate-corrected QT interval (QTc) and life-threatening arrhythmias. 22199116 2012