Disease: Long Qt Syndrome 6 ×
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