Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		0.500 Biomarker phenotype CTD_human Imbalance of NFATc2 and KV1.5 Expression in Rat Pulmonary Vasculature of Nitrofen-Induced Congenital Diaphragmatic Hernia. 27522126 2017
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		0.500 Biomarker phenotype RGD KMUP-1 ameliorates monocrotaline-induced pulmonary arterial hypertension through the modulation of Ca2+ sensitization and K+-channel. 20303989 2010
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.400 Biomarker disease CTD_human Atrial-selective sodium channel block as a novel strategy for the management of atrial fibrillation. 19698954 2010
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.400 Biomarker disease HPO
CUI: C2677106
Disease: Atrial Fibrillation, Familial, 7
Atrial Fibrillation, Familial, 7 		0.400 CausalMutation disease CLINVAR
CUI: C2677106
Disease: Atrial Fibrillation, Familial, 7
Atrial Fibrillation, Familial, 7 		0.400 Biomarker disease CTD_human
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
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.360 GeneticVariation disease BEFREE 5-HTT, BMPR2, EDN1, ENG, KCNA5 gene polymorphisms and susceptibility to pulmonary arterial hypertension: A meta-analysis. 30218748 2019
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.360 Biomarker disease BEFREE Decreased expression and inhibited activity of voltage-gated potassium channels, particularly KCNA5 (Kv1.5), are also seen in PAH, regardless of the cause, and facilitation of pulmonary arterial contraction and vascular remodeling has been shown. 27826710 2017
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.360 Biomarker disease GENOMICS_ENGLAND Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension? 26167679 2015
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.360 Biomarker disease BEFREE The aim of this study was to analyze the Bone Morphogenetic Protein Receptor 2 (BMPR2), Activin A type II receptor like kinase 1 (ALK1/ACVRL1) and potassium voltage-gated channel, shakerrelated subfamily, member 5 (KCNA5) genes in patients with idiopathic and associated PAH. 24936649 2014
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.360 Biomarker disease BEFREE Our data do not support an important role of KCNA5 as an SSc-susceptibility factor or as a PAH-development genetic marker for SSc patients. 23270786 2012
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.360 GeneticVariation disease BEFREE We undertook this study to determine whether KCNA5 polymorphisms confer susceptibility to SSc and its vascular phenotype, including PAH. 20556823 2010
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.360 GeneticVariation disease BEFREE Function of Kv1.5 channels and genetic variations of KCNA5 in patients with idiopathic pulmonary arterial hypertension. 17267549 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 AlteredExpression disease BEFREE Furthermore, following caveolin-1 knockdown, the expression of KCNA5 was decreased in MDA-MB-231 human breast cancer and MCF-10A-neoT non-tumorigenic epithelial cell lines. 30250548 2018
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.310 Biomarker disease GENOMICS_ENGLAND Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension? 26167679 2015