rs120074189, KCNQ1

N. diseases: 4
Disease: Long QT Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.720 GeneticVariation BEFREE The disruption of hERG trafficking caused by the KCNQ1-T587M mutation is likely the reason why some patients exhibit severe LQTS phenotypes. 30591322 2019
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.720 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405 2015
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.720 CausalMutation CLINVAR Long QT syndrome in South Africa: the results of comprehensive genetic screening. 24217263 2013
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.720 CausalMutation CLINVAR Trafficking-competent KCNQ1 variably influences the function of HERG long QT alleles. 20348026 2010
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.720 CausalMutation CLINVAR Fetal atrioventricular block and postpartum augmentative QT prolongation in a patient with long-QT syndrome with KCNQ1 mutation. 20487114 2010
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.720 GeneticVariation BEFREE The trafficking-deficient LQTS mutation KCNQ1-T587M fails to show the chaperoning function that enhances KCNH2 membrane localization with KCNQ1-WT. 19959132 2009
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.720 CausalMutation CLINVAR We hypothesized that failure of trafficking-deficient KCNQ1-T587M to enhance KCNH2 membrane expression could reduce KCNH2 current versus wild-type KCNQ1 (KCNQ1-WT), contributing to the LQTS phenotype of KCNQ1-T587M carriers. 19959132 2009
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.720 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300 2009
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.720 CausalMutation CLINVAR Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 18752142 2008
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.720 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
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.720 CausalMutation CLINVAR Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus. 11162126 2001
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.720 CausalMutation CLINVAR Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. 10024302 1999
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.720 CausalMutation CLINVAR Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. 9799083 1998