Disease: Long Qt Syndrome 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6 		0.710 GeneticVariation disease 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
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6 		0.710 GeneticVariation disease UNIPROT Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724 2006
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6 		0.710 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6 		0.710 GeneticVariation disease CLINVAR Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. 15368194 2004
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6 		0.710 AlteredExpression disease BEFREE Mutations in KCNE2 have been linked to long-QT syndrome (LQT6), yet KCNE2 protein expression in the ventricle and its functional role in native channels are not clear. 15066947 2004
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6 		0.710 GeneticVariation disease UNIPROT Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics. 12185453 2002
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6 		0.710 Biomarker disease GENOMICS_ENGLAND Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. 11468227 2001
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6 		0.710 GeneticVariation disease UNIPROT MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. 10219239 1999
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6 		0.710 SusceptibilityMutation disease CLINVAR
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6 		0.710 Biomarker disease CTD_human
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6 		0.710 CausalMutation disease CLINVAR