rs1805128, KCNE1

N. diseases: 10
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
0.750 GeneticVariation BEFREE Retrospective review was used to compare demographics, symptomatology, and QT parameters of individuals with p.Asp85Asn-KCNE1 in the absence of other rare/ultra-rare variants in LQTS-susceptibility genes and those who underwent comprehensive LQTS genetic testing. 29625280 2018
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.750 GeneticVariation BEFREE Instability of KCNE1-D85N that causes long QT syndrome: stabilization by verapamil. 24499369 2014
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.750 SusceptibilityMutation CLINVAR Verapamil may be of a therapeutic value in LQTS patients via preventing degradation of KCNE1-D85N. 24499369 2014
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.750 GeneticVariation BEFREE Screening of the genotype disclosed the KCNE1 D85N polymorphism, which is known as one of the typical disease-causing gene variants in long-QT syndrome (LQTS). 22999324 2013
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.750 GeneticVariation BEFREE Our data warrant additional studies on the role of KCNE1 D85N in other genetically homogeneous groups of LQTS patients. 21244686 2011
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.750 GeneticVariation BEFREE The KCNE1-D85N polymorphism was significantly more frequent in our LQTS probands. 19695459 2009
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.750 SusceptibilityMutation CLINVAR D85N, a KCNE1 polymorphism, is known to be a functional variant associated with drug-induced LQTS. 19695459 2009
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.750 SusceptibilityMutation CLINVAR Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. 14760488 2004
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.750 SusceptibilityMutation CLINVAR Compound mutations: a common cause of severe long-QT syndrome. 15051636 2004
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.750 SusceptibilityMutation CLINVAR Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. 14661677 2003
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.750 SusceptibilityMutation CLINVAR Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. 10807545 2000
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.750 GeneticVariation CLINVAR