Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751089
Disease: Brugada Syndrome 6
Brugada Syndrome 6 		0.600 Biomarker disease GENOMICS_ENGLAND Genetics of Brugada syndrome. 27761167 2016
CUI: C2751089
Disease: Brugada Syndrome 6
Brugada Syndrome 6 		0.600 GeneticVariation disease CLINVAR KCNE3 T4A as the genetic basis of Brugada-pattern electrocardiogram. 22987075 2012
CUI: C2751089
Disease: Brugada Syndrome 6
Brugada Syndrome 6 		0.600 GeneticVariation disease CLINVAR Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome. 19306396 2009
CUI: C2751089
Disease: Brugada Syndrome 6
Brugada Syndrome 6 		0.600 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C2751089
Disease: Brugada Syndrome 6
Brugada Syndrome 6 		0.600 CausalMutation disease CLINVAR
CUI: C2751089
Disease: Brugada Syndrome 6
Brugada Syndrome 6 		0.600 Biomarker disease CTD_human
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.510 Biomarker disease CLINGEN Forty consecutive patients with Brugada-pattern electrocardiogram (ECG) underwent comprehensive genetic analysis of BrS-causing genes including SCN5A, SCN1B, SCN3B, CACNA1C, CACNB2, KCNE3 and KCNE5. 22987075 2012
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.510 Biomarker disease GENOMICS_ENGLAND Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome. 19306396 2009
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.510 Biomarker disease CLINGEN These results provide definitive evidence for a functional role of KCNE3 in the modulation of I(to) in the human heart and suggest that mutations in KCNE3 can underlie the development of BrS. 19122847 2008
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.510 GeneticVariation disease BEFREE These results provide definitive evidence for a functional role of KCNE3 in the modulation of I(to) in the human heart and suggest that mutations in KCNE3 can underlie the development of BrS. 19122847 2008
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.510 Biomarker disease CLINGEN Expression of multiple KCNE genes in human heart may enable variable modulation of I(Ks). 15698834 2005
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.330 GeneticVariation disease BEFREE Last, because hyperkalemic PP has been described to be associated with an R83H mutation of a MiRP2 potassium channel subunit, evidence refuting disease-causality in this case will be discussed. 17395131 2007
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.330 GeneticVariation disease ORPHANET Strict bed rest following lumbar puncture in children and adolescents is of no benefit. 15037713 2004
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.330 GeneticVariation disease ORPHANET Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis. 14504341 2003
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.330 GeneticVariation disease BEFREE Clinical and electrophysiological data have outlined a spectrum of similar yet distinct periodic paralyses, including potassium-sensitive (hyperkalemic periodic paralysis [HYPP]) and temperature-sensitive (paramyotonia congenita [PC]) forms. 8388676 1993
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.330 GeneticVariation disease BEFREE The observation of a distinct mutation that cosegregates with HYPP in two families and appears as a de novo mutation in a third establishes SCN4A as the HYPP gene. 1659948 1991
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.310 Biomarker disease GENOMICS_ENGLAND To investigate the association between KCNE3 and LQTS, we conducted a genetic screening of KCNE3 mutations and single nucleotide polymorphisms (SNPs) in 485 Japanese LQTS probands using DHPLC-WAVE system and direct sequencing. 19306396 2009
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.310 Biomarker disease BEFREE To investigate the association between KCNE3 and LQTS, we conducted a genetic screening of KCNE3 mutations and single nucleotide polymorphisms (SNPs) in 485 Japanese LQTS probands using DHPLC-WAVE system and direct sequencing. 19306396 2009
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.310 GeneticVariation disease ORPHANET Strict bed rest following lumbar puncture in children and adolescents is of no benefit. 15037713 2004
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.310 GeneticVariation disease ORPHANET Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis. 14504341 2003
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.310 GeneticVariation disease BEFREE A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis. 12414843 2002
CUI: C0039070
Disease: Syncope
Syncope 		0.110 GeneticVariation phenotype BEFREE Besides identifying 8 SCN5A mutations in the present cohort, a KCNE3 T4A mutation was found in a 55-year-old male patient who had experienced several episodes of syncope. 22987075 2012
CUI: C0039070
Disease: Syncope
Syncope 		0.110 Biomarker phenotype HPO
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012