rs104894584, KCNJ2

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Short QT Syndrome 3
CUI: C1865018
Disease: Short QT Syndrome 3
0.820 GeneticVariation BEFREE A gain-of-function <i>KCNJ2</i> D172N mutation in KCNJ2-encoded Kir2.1 channels underlies one form of short QT syndrome (SQT3), which is associated with increased susceptibility to arrhythmias and sudden death. 29290967 2017
Short QT Syndrome 3
CUI: C1865018
Disease: Short QT Syndrome 3
0.820 GeneticVariation BEFREE One form of the short QT syndrome (SQT3) has been linked to the D172N gain-in-function mutation to Kir2.1, which preferentially increases outward current through channels responsible for inward rectifier K(+) current (I(K1)). 22308236 2012
Short QT Syndrome 3
CUI: C1865018
Disease: Short QT Syndrome 3
0.820 GeneticVariation UNIPROT Although we were unable to test for inducibility of arrhythmia susceptibility due to lack of patients' consent, our computer simulations predict a steeper steady-state restitution curve for the D172N and WT/D172N mutation, compared with WT or to HERG or KvLQT1 mutations, which may predispose SQT3 patients to a greater risk of reentrant arrhythmias. 15761194 2005
Short QT Syndrome 3
CUI: C1865018
Disease: Short QT Syndrome 3
0.820 CausalMutation CLINVAR
Short Qt Syndrome
CUI: C2348199
Disease: Short Qt Syndrome
0.040 GeneticVariation BEFREE SQT3 variant (linked to the inward rectifier potassium current I <sub>K1</sub>) of SQTS, results from a gain-of-function mutation (Kir2.1 D172N) in the KCNJ2-encoded channels, which is associated with ventricular fibrillation (VF). 28812984 2017
Short Qt Syndrome
CUI: C2348199
Disease: Short Qt Syndrome
0.040 GeneticVariation BEFREE The SQTS variant 3 is linked to D172N mutation to the KCNJ2 gene that causes a gain-of-function to the inward rectifier potassium channel current (I <sub>K1</sub>), which shortens the ventricular action potential duration (APD) and effective refractory period (ERP). 28592292 2017
Short Qt Syndrome
CUI: C2348199
Disease: Short Qt Syndrome
0.040 GeneticVariation BEFREE A gain-of-function <i>KCNJ2</i> D172N mutation in KCNJ2-encoded Kir2.1 channels underlies one form of short QT syndrome (SQT3), which is associated with increased susceptibility to arrhythmias and sudden death. 29290967 2017
Short Qt Syndrome
CUI: C2348199
Disease: Short Qt Syndrome
0.040 GeneticVariation BEFREE One form of the short QT syndrome (SQT3) has been linked to the D172N gain-in-function mutation to Kir2.1, which preferentially increases outward current through channels responsible for inward rectifier K(+) current (I(K1)). 22308236 2012
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.030 GeneticVariation BEFREE A gain-of-function <i>KCNJ2</i> D172N mutation in KCNJ2-encoded Kir2.1 channels underlies one form of short QT syndrome (SQT3), which is associated with increased susceptibility to arrhythmias and sudden death. 29290967 2017
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.030 GeneticVariation BEFREE Increased I(K1) due to the Kir2.1 D172N mutation increases arrhythmia risk due to increased tissue vulnerability, shortened ERP, and altered excitability, which in combination facilitate initiation and maintenance of re-entrant circuits. 22308236 2012
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.030 GeneticVariation BEFREE Although we were unable to test for inducibility of arrhythmia susceptibility due to lack of patients' consent, our computer simulations predict a steeper steady-state restitution curve for the D172N and WT/D172N mutation, compared with WT or to HERG or KvLQT1 mutations, which may predispose SQT3 patients to a greater risk of reentrant arrhythmias. 15761194 2005
Ventricular Fibrillation
CUI: C0042510
Disease: Ventricular Fibrillation
0.010 GeneticVariation BEFREE SQT3 variant (linked to the inward rectifier potassium current I <sub>K1</sub>) of SQTS, results from a gain-of-function mutation (Kir2.1 D172N) in the KCNJ2-encoded channels, which is associated with ventricular fibrillation (VF). 28812984 2017
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
0.010 GeneticVariation BEFREE This study investigated mechanisms by which the Kir2.1 D172N mutation facilitates and perpetuates ventricular arrhythmias. 22308236 2012