Disease: Short QT Syndrome 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. 16217063 2005
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. 23595086 2013
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 GeneticVariation disease BEFREE KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia. 23440193 2013
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype. 23644778 2013
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome. 21493816 2011
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity. 17582433 2007
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 18452873 2008
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Phenotype variability in patients carrying KCNJ2 mutations. 22589293 2012
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 GeneticVariation disease UNIPROT A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. 15761194 2005
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome. 22002906 2012
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities. 17119796 2006
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. 14522976 2003
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. 23867365 2013
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Andersen-Tawil syndrome with early fixed myopathy. 25415519 2014
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 GeneticVariation disease BEFREE A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. 15761194 2005
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. 12148092 2002
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 Biomarker disease BEFREE A few families have been identified with specific genotypes: 3 with mutations in potassium channels called SQT1 (Iks), SQT2 (Ikr) and SQT3 (Ik1). 23677719 2013
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 Biomarker disease CTD_human
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 Biomarker disease GENOMICS_ENGLAND Ion channelopathies in human induced pluripotent stem cell derived cardiomyocytes: a dynamic clamp study with virtual IK1. 25691870 2015
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles. 22806368 2012
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. 16818210 2006
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties. 17341397 2007
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 Biomarker disease GENOMICS_ENGLAND Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). 12163457 2002
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. 17221872 2007
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. 12086641 2002