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
CUI: C1862394
Disease: Atrial Fibrillation, Familial, 4
Atrial Fibrillation, Familial, 4 		0.700 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C1862394
Disease: Atrial Fibrillation, Familial, 4
Atrial Fibrillation, Familial, 4 		0.700 GeneticVariation disease UNIPROT Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. 15368194 2004
CUI: C1862394
Disease: Atrial Fibrillation, Familial, 4
Atrial Fibrillation, Familial, 4 		0.700 GeneticVariation disease CLINVAR Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. 15368194 2004
CUI: C1862394
Disease: Atrial Fibrillation, Familial, 4
Atrial Fibrillation, Familial, 4 		0.700 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: C1862394
Disease: Atrial Fibrillation, Familial, 4
Atrial Fibrillation, Familial, 4 		0.700 CausalMutation disease CLINVAR
CUI: C1862394
Disease: Atrial Fibrillation, Familial, 4
Atrial Fibrillation, Familial, 4 		0.700 Biomarker disease CTD_human
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		0.410 Biomarker disease CTD_human MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. 10219239 1999
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		0.410 GeneticVariation disease BEFREE Three missense mutations associated with long QT syndrome and ventricular fibrillation are identified in the gene for MiRP1. 10219239 1999
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		0.410 Biomarker disease HPO
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.400 Biomarker disease BEFREE The identification of FLNC as a novel KCNE2 ligand not only enhances current understanding of ion channel function and regulation, but also provides valuable information about possible pathways likely to be involved in LQTS pathogenesis. 26956495 2016
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.400 GeneticVariation disease BEFREE We have developed a model for the long QT syndrome type-5 in rabbits (LQT5 ) with cardiac-specific overexpression of a mutant (G52R) KCNE1 β-subunit of the channel that carries the slow delayed-rectifier K(+) -current (IKs ). 27076034 2016
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.400 GeneticVariation disease BEFREE We applied recently designed prioritization strategies (VAAST/pedigree VAAST) coupled with an ontology-based algorithm (Phevor) that reduced the number of potentially damaging variants to 10: a variant in KCNE2 previously associated with Long QT syndrome was also identified. 26284702 2015
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.400 Biomarker disease BEFREE KCNE2 has been widely studied since we first discovered one of its roles in the heart and its association with inherited and acquired human Long QT syndrome. 26123744 2015
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.400 GeneticVariation disease 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