Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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 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: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.040 GeneticVariation disease BEFREE Mutation screening of the KCNQ1, KCNE1, KCNE2, and KCNE3 genes was performed in 50 families with AF. 17276182 2007
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.040 AlteredExpression disease BEFREE For example, phospholamban, the beta-subunit MinK (KCNE1) and MIRP2 (KCNE3), and the 2-pore potassium channel TWIK-1 were upregulated in AF-VHD compared with SR-VHD, whereas the T-type calcium-channel Cav3.1 and the transient-outward potassium channel Kv4.3 were downregulated. 16027256 2005
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.040 Biomarker disease BEFREE We aimed to investigate if mutations in potassium-channel β-subunits KCNE2 and KCNE3 are associated with early-onset lone AF. 24796621 2014
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.040 GeneticVariation disease BEFREE We suggest abnormalities in the KCNE3 gene as a potential genetic risk factor for initiation and/or maintenance of AF. 18209471 2008
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.040 GeneticVariation disease BEFREE A missense mutation is identified in the gene for MiRP2 (KCNE3) in two families with periodic paralysis and found to segregate with the disease. 11207363 2001
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.040 GeneticVariation disease BEFREE These observations weaken the proposal that MiRP2-R83H causes periodic paralysis. 14504341 2003
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.040 GeneticVariation disease BEFREE Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. 15037716 2004
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.040 Biomarker disease BEFREE These findings identify a key regulatory domain in MiRP2 and suggest a mechanistic link between acidosis and episodes of periodic paralysis. 16449802 2006
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		0.040 GeneticVariation disease BEFREE A missense mutation is identified in the gene for MiRP2 (KCNE3) in two families with periodic paralysis and found to segregate with the disease. 11207363 2001
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		0.040 GeneticVariation disease BEFREE These observations weaken the proposal that MiRP2-R83H causes periodic paralysis. 14504341 2003
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		0.040 GeneticVariation disease BEFREE Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. 15037716 2004
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		0.040 Biomarker disease BEFREE These findings identify a key regulatory domain in MiRP2 and suggest a mechanistic link between acidosis and episodes of periodic paralysis. 16449802 2006
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.020 GeneticVariation phenotype BEFREE Inherited sequence variants in human KCNE1 and KCNE3 cause cardiac arrhythmias but by different mechanisms, and each is important for hearing in unique ways. 26410412 2016
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.020 Biomarker phenotype BEFREE Based on quantitative modeling of a transmural cardiac segment, we demonstrate that the degree of QT interval abbreviation observed results from electrotonic interactions in the face of limited transduction efficiency and that heterogeneous transduction of E3 may actually potentiate arrhythmias. 11956246 2002
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE The findings lend weight to the premise that specific channels, such as MiRP2-Kv3.4, could hold promise as future therapeutic targets in Alzheimer's disease and potentially other neurodegenerative disorders. 17595326 2007
CUI: C0025281
Disease: Meniere Disease
Meniere Disease 		0.010 Biomarker disease BEFREE Six additional SNPs in both KCNE1 and KCNE3 were genotyped and none was associated with MD. 20034061 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE Several ion-channels showed significantly increased expression in tumors (p < 0.0005); nine genes (namely, CACNA1D, FXYD3, FXYD5, HTR3A, KCNE3, KCNE4, KCNN4, CLIC1, TRPM3) showed such significant modification in at least half of datasets investigated for each cancer type. 27716384 2016
CUI: C0027849
Disease: Neuroleptic Malignant Syndrome
Neuroleptic Malignant Syndrome 		0.010 GeneticVariation disease BEFREE A KCNE3 T4A mutation was identified in a Japanese patient presenting Brugada-pattern ECG and NMS. 22987075 2012