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 Biomarker disease CTD_human
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. 11371347 2001
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 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 Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. 12086641 2002
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR 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 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 Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion. 12909315 2003
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. 12796536 2003
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 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 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 Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. 15911703 2005
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 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 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 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 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 Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families. 17211524 2007
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		0.740 CausalMutation disease CLINVAR Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome. 17568571 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 Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue. 20382953 2010
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 Phenotype variability in patients carrying KCNJ2 mutations. 22589293 2012
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