Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.390 GeneticVariation disease BEFREE SNX17 (Sorting Nexin 17) Mediates Atrial Fibrillation Onset Through Endocytic Trafficking of the Kv1.5 (Potassium Voltage-Gated Channel Subfamily A Member 5) Channel. 30939909 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.390 AlteredExpression disease BEFREE In addition, a positive correlation between the mRNA expression Cx40 and KCNA5 was observed in the atrial myocytes of patients with AF (P<0.05; r=0.42). 29201233 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.390 GeneticVariation disease BEFREE Indeed, genetic variations of the atrial specific KCNA5 gene have been identified in patients with early-onset lone AF. 29034891 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.390 AlteredExpression disease BEFREE However, neither Kv1.5 protein nor KCNA5 mRNA had significant differences in adult and aged groups, non-RHD and RHD group, and men and women group of AF. 25918274 2015
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.390 GeneticVariation disease BEFREE We hypothesized that early-onset lone AF is associated with high prevalence of genetic variants in KCNA5 and KCNAB2. 23264583 2013
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.390 GeneticVariation disease BEFREE Loss-of-function mutations in KCNA5 encoding the ultrarapid delayed rectifier potassium current I(Kur) have been identified in AF families. 20638934 2010
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.390 Biomarker disease CTD_human Recent studies, however, have shown that loss-of-function mutations in KCNA5, the gene that encodes K(V)1.5, the alpha subunit of the I(Kur) channel, is associated with the development of AF and that inhibition of I(Kur) can promote the induction of AF in experimental models. 19698954 2010
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.390 GeneticVariation disease BEFREE These findings expand the spectrum of mutations in KCNA5 linked to AF and provide new insight into the molecular mechanism involved in AF. 19343045 2009
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.390 GeneticVariation disease LHGDN A pilot study to estimate the feasibility of assessing the relationships between polymorphisms in hKv1.5 and atrial fibrillation in patients following coronary artery bypass graft surgery. 18209767 2008
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.390 GeneticVariation disease BEFREE This first report of Kv1.5 loss-of-function channelopathy establishes KCNA5 mutation as a novel risk factor for repolarization deficiency and atrial fibrillation. 16772329 2006