Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		0.100 Biomarker disease HPO
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: 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 Biomarker disease LHGDN We suggest abnormalities in the KCNE3 gene as a potential genetic risk factor for initiation and/or maintenance of AF. 18209471 2008
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: C3715208
Disease: AV Block First Degree by ECG Finding
AV Block First Degree by ECG Finding 		0.100 Biomarker phenotype HPO
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: 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 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 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: 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 GENOMICS_ENGLAND Genetics of Brugada syndrome. 27761167 2016
CUI: C2751089
Disease: Brugada Syndrome 6
Brugada Syndrome 6 		0.600 Biomarker disease CTD_human
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: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 Biomarker disease HPO
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: C1720983
Disease: Channelopathies
Channelopathies 		0.010 Biomarker disease BEFREE Missense mutations in kcne1, kcne2, and kcne3 are linked to congenital and acquired channelopathies in Homo sapiens. 17491013 2007
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C4025572
Disease: Episodic flaccid weakness
Episodic flaccid weakness 		0.100 Biomarker phenotype HPO