Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long Qt Syndrome 6
CUI: C3150953
Disease: Long Qt Syndrome 6
0.800 GeneticVariation UNIPROT Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
Long Qt Syndrome 6
CUI: C3150953
Disease: Long Qt Syndrome 6
0.800 GeneticVariation UNIPROT Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724 2006
Long Qt Syndrome 6
CUI: C3150953
Disease: Long Qt Syndrome 6
0.800 GeneticVariation UNIPROT Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics. 12185453 2002
Long Qt Syndrome 6
CUI: C3150953
Disease: Long Qt Syndrome 6
0.800 GeneticVariation UNIPROT MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. 10219239 1999
Long Qt Syndrome 6
CUI: C3150953
Disease: Long Qt Syndrome 6
0.800 CausalMutation CLINVAR
Long Qt Syndrome 6
CUI: C3150953
Disease: Long Qt Syndrome 6
0.800 SusceptibilityMutation CLINVAR
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.700 GeneticVariation CLINVAR
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.010 GeneticVariation BEFREE An LQTS registry search identified a 55-year male with M54T MiRP1 mutation, history of sinus bradycardia (39-56 bpm), and prolonged QTc. 23631727 2013