Disease: Long QT Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE Here we report a quantitative analysis by simulating cardiac action potentials of cultured human cardiomyocytes to match the experimental waveforms of both healthy control and LQT syndrome type 1 (LQT1) action potentials. 22745159 2012
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease CLINVAR Long QT and Brugada syndrome gene mutations in New Zealand. 17905336 2007
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE The 2 genes KCNQ1 (LQT1) and HERG (LQT2), encoding cardiac potassium channels, are the most common cause of the dominant long-QT syndrome (LQTS). 11222472 2001
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE To explain the presence of LQTS segregating with the t(11;17) translocation in this family, we hypothesize that the translocation that interrupts KCNQ1 allow translation of an abnormal short allele that interferes in a dominant negative way with the normal isoform 1 of KCNQ1 in the heart (where this allele is not subject to parental imprint). 23061425 2013
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE Data on the Jervell and Lange-Nielsen syndrome (J-LN), the long-QT syndrome (LQTS) variant associated with deafness and caused by homozygous or compound heterozygous mutations on the KCNQ1 or on the KCNE1 genes encoding the I(Ks) current, are still based largely on case reports. 16461811 2006
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE We previously identified a missense mutation F275S located within the S5 transmembrane domain of the KCNQ1 ion channel in a Chinese family with long QT syndrome. 19167356 2009
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE We previously mapped three LQT loci: LQT1 on chromosome 11p15.5, LQT2 on 7q35-36, and LQT3 on 3p21-24. 7889574 1995
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease CLINVAR The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes. 17227916 2007
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease CLINVAR Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. 9323054 1997
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease LHGDN Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. 16246960 2005
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE The Y111C/KCNQ1 mutation is a Swedish long QT syndrome founder mutation that was introduced in the northern population approximately 600 years ago. 21129503 2011
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, which contrasts with the dominant negative or loss-of-function effects of the KCNQ1 mutations previously identified in patients with long QT syndrome. 12522251 2003
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE Type 1 long-QT syndrome is associated with the genetic variants of KCNQ1 gene that encodes Kv7.1, the α-subunit of the voltage-gated potassium channel QKT subfamily member 1 that channels the slow component of the outwardly rectifying K<sup>+</sup> channel current in cardiac myocytes. 29058180 2018
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE The diagnoses of the congenital LQT syndrome and its most common types LQT1 and LQT2 are made difficult because of the limitations of the electrocardiogram as a diagnostic tool. 11897209 2002
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE Hundreds of nonsynonymous single nucleotide variants (nsSNVs) have been identified in the 2 most common long-QT syndrome-susceptibility genes (KCNQ1 and KCNH2).Unfortunately, an ≈3% 22949429 2012
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE For the first time, we linked common genetic variation at KCNQ1 with risk of long-QT syndrome. 25737393 2015
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE The functional variant is a disease-causing gene variant of LQTS phenotype that functions by interacting with KCNH2 and KCNQ1. 19695459 2009
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE A genetic screening of LQT-related genes revealed a previously reported heterozygous KCNQ1 mutation. 22354620 2013
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE The KVLQT1 L122P mutation is a rare novel mutation that probably arose spontaneously in this family, leading to long QT syndrome. 10874277 2000
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE To test the hypothesis that autonomic maneuvers can unmask long QT syndrome in genetically abnormal subjects with a normal phenotype (QTc < or =450 ms), we exposed 13 controls (33 +/- 9 years; 5 men), 5 patients with LQT1 (32 +/- 12 years; 3 men), and 5 patients with LQT2 (30 +/- 11 years; 5 men) to phenylephrine bolus, exercise, and epinephrine infusion. 16275192 2005
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE For example, in hereditary long QT syndrome due to mutations in KCNQ1 arrhythmic episodes are provoked by exercise and in particular swimming. 28223225 2017
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE The same conserved amino acid was also found to be mutated in the KCNQ1 gene in a family with Long QT Syndrome. 16691402 2006
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease BEFREE Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation. 28249770 2017
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 GeneticVariation disease CLINVAR Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. 26159999 2015