Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C0270699
Disease: Neonatal maladjustment syndrome
Neonatal maladjustment syndrome
0.010 GeneticVariation disease BEFREE A KCNE3 T4A mutation was identified in a Japanese patient presenting Brugada-pattern ECG and NMS. 22987075 2012
CUI: C0040264
Disease: Tinnitus
Tinnitus
0.010 Biomarker phenotype BEFREE However, owing to a lack of power, our study can neither rule out effects of KCNE3 on the risk for developing chronic tinnitus, nor can it exclude a role in predicting the severity of tinnitus. 21899751 2011
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: C0340489
Disease: Lone atrial fibrillation
Lone atrial fibrillation
0.010 GeneticVariation disease BEFREE KCNE3 mutation V17M identified in a patient with lone atrial fibrillation. 18209471 2008
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: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma
0.010 GeneticVariation disease BEFREE No somatic mutation of TSH receptor was found in his thyroid adenoma and no known genetic mutations of ionic channel genes, such as calcium (CACN1S), sodium (SCN4A) and potassium (KCNE3), were found. 17917308 2007
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.010 Biomarker group 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: 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: C0268446
Disease: Thyrotoxic periodic paralysis
Thyrotoxic periodic paralysis
0.010 GeneticVariation disease BEFREE No pathogenic mutation in KCNE3 was found in the TPP patients. 15212652 2004
Hypokalemic periodic paralysis type 1
0.010 GeneticVariation disease BEFREE A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis. 12414843 2002
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder)
0.010 Biomarker 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: 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: 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: 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: 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 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: 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: 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: 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: 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