Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.460 GeneticVariation disease BEFREE An homozygous mutation in KCNK3 is associated with an aggressive form of hereditary pulmonary arterial hypertension. 27649371 2017
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.460 Biomarker disease BEFREE We have demonstrated that KCNK3 dysfunction is common to heritable and nonheritable pulmonary arterial hypertension and to experimental pulmonary hypertension (PH). 31347976 2019
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.460 Biomarker disease BEFREE While there is compelling evidence that TASK-1 is involved in the pathogenesis of pulmonary arterial hypertension in humans, the mouse does not appear to serve as a suitable model to study the underlying molecular mechanisms. 28301582 2017
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.460 GeneticVariation disease BEFREE Characterization and regulation of wild-type and mutant TASK-1 two pore domain potassium channels indicated in pulmonary arterial hypertension. 30365877 2019
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.460 Biomarker disease BEFREE Potassium Channel Subfamily K Member 3 (KCNK3) Contributes to the Development of Pulmonary Arterial Hypertension. 26912814 2016
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.320 GeneticVariation disease BEFREE Furthermore, mutations in KCNK3 have been identified as a rare cause of both familial and idiopathic pulmonary arterial hypertension. 29122916 2017
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		0.320 GeneticVariation disease BEFREE Five additional heterozygous missense variants in KCNK3 were independently identified in 92 unrelated patients with familial pulmonary arterial hypertension and 230 patients with idiopathic pulmonary arterial hypertension. 23883380 2013
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.320 GeneticVariation disease BEFREE Five additional heterozygous missense variants in KCNK3 were independently identified in 92 unrelated patients with familial pulmonary arterial hypertension and 230 patients with idiopathic pulmonary arterial hypertension. 23883380 2013
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.320 GeneticVariation disease BEFREE A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension. 28388887 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.190 Biomarker group BEFREE Loss of KCNK3 is a hallmark of RV hypertrophy/dysfunction associated with pulmonary hypertension. 29360952 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.190 GeneticVariation group BEFREE Hemodynamic and Pathologic Characterization of the TASK-1<sup>-/-</sup> Mouse Does Not Demonstrate Pulmonary Hypertension. 29109948 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.190 Biomarker group BEFREE Previously, we reported that global genetic deletion of 2 pore-domain TWIK-relative acid-sensitive potassium channels, TASK-1 and TASK-3, from mice produces striking aldosterone excess, low renin, and hypertension. 30580687 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.190 GeneticVariation group BEFREE We discovered additional KCNK3 SNP associations with systolic BP, mean arterial pressure, and hypertension. 27296998 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.190 GeneticVariation group BEFREE Intergenic polymorphism rs10792367 between OAT1 and OAT3 is not associated with hypertension, but appears to be involved in between-individual variations in antihypertensive responses to HCTZ. 21164499 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.190 Biomarker group BEFREE KCNK3: new gene target for pulmonary hypertension? 24742047 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.190 GeneticVariation group BEFREE In 2013, KCNK3 (TASK1), which encodes a type of two-pore domain potassium channel, was shown to be a predisposing gene for PAH by genetic mutation, and it was added to the PAH classification at the Fifth World Symposium on Pulmonary Hypertension (Nice International Conference). 27826710 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.190 Biomarker group BEFREE Potassium channel subfamily K member 3 (KCNK3) has been reported to play important roles in membrane potential conduction, pulmonary hypertension and thermogenesis regulation in mammals. 31121162 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.190 GeneticVariation group BEFREE A trend toward positive association (P = .05) was also found between AP and a single nucleotide polymorphism in KCNK3, a gene known to be involved in increased susceptibility to hypertension. 30661725 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.090 AlteredExpression disease BEFREE Western blot analysis showed that total TASK-1 protein levels either did not change or increased slightly in AF, despite the absence of current. 25437921 2015
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.090 Biomarker disease BEFREE Two-pore-domain potassium (K<sub>2P</sub>) channels modulate cellular excitability, and TASK-1 (K<sub>2P</sub>3.1) currents were recently shown to alter atrial action potential duration in AF and heart failure (HF). 29881975 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.090 Biomarker disease BEFREE We next performed genetic screening of KCNK3 in two independent AF cohorts (373 subjects) and identified three novel KCNK3 variants. 24374141 2014
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.090 Biomarker disease BEFREE The present preclinical study used a porcine AF model to evaluate the antiarrhythmic efficacy of TASK-1 inhibition by adeno-associated viral anti-TASK-1-siRNA (small interfering RNA) gene transfer. 31514528 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.090 Biomarker disease BEFREE Various genes involved in Ca<sup>2+</sup> handling or gap junction formation ( Ryr2, Jph2, Gja5), potassium channels ( Kcnh2, Kcnk3), and genes implicated in atrial fibrillation ( Tbx5) were part of this ETV1-driven gene regulatory network. 29930145 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.090 Biomarker disease BEFREE Due to the lack of ventricular expression and the ability to alter human atrial action potential duration, TASK-1 might be a drug target for the treatment of atrial fibrillation. 22178873 2011
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.090 Biomarker disease BEFREE It has therefore been postulated that K2P3.1 (KCNK3), together with K2P9.1 (KCNK9), could represent novel drug targets for the treatment of atrial fibrillation (AF). 26729267 2016