rs104894585, KCNJ2

N. diseases: 5
Disease: Andersen Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
0.810 CausalMutation CLINVAR Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. 24861851 2015
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
0.810 CausalMutation CLINVAR Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 18452873 2008
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
0.810 GeneticVariation UNIPROT Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. 17324964 2007
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
0.810 CausalMutation CLINVAR In this study, we characterized the KCNJ2 channels with an ATS mutation (T75M) which is associated with cardiac phenotypes of bi-directional ventricular tachycardia, syncope, and QT(c) prolongation. 17582433 2007
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
0.810 GeneticVariation BEFREE T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity. 17582433 2007
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
0.810 CausalMutation CLINVAR KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties. 17341397 2007
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
0.810 GeneticVariation UNIPROT Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. 16571646 2006
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
0.810 CausalMutation CLINVAR Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. 15911703 2005
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
0.810 CausalMutation CLINVAR Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. 16217063 2005
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
0.810 GeneticVariation UNIPROT Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). 12163457 2002
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
0.810 GeneticVariation UNIPROT KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. 12148092 2002
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
0.810 GeneticVariation UNIPROT Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. 11371347 2001
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
0.810 CausalMutation CLINVAR