Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 Biomarker disease BEFREE The KCNJ2 gene has been identified as the causative gene of ATS. 31669729 2019
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Multivariate analysis of TU wave complex on electrocardiogram in Andersen-Tawil syndrome with KCNJ2 mutations. 31724784 2019
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Four different CACNA1S missense mutations were detected in hypokalemic periodic paralysis and five KCNJ2 missense mutations in Andersen-Tawil syndrome. 29606556 2018
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 CausalMutation disease CLINVAR Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families. 28003625 2017
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 Biomarker disease BEFREE TRPM4 enlarges the subgroup of LQT genes (KCNJ2 in Andersen syndrome and CACNA1C in Timothy syndrome) known to increase the QT interval through a more complex pleiotropic effect than merely action potential alteration. 28315637 2017
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Andersen-Tawil syndrome (ATS) is rare channelopathy caused by KCNJ2 mutation and probably KCNJ5. 28336205 2017
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients. 29017447 2017
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Current topics in catecholaminergic polymorphic ventricular tachycardia. 27761157 2016
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 Biomarker disease BEFREE Direct sequencing of KCNJ2 was performed in 12 subjects from mainland China with suspected ATS. 27145478 2016
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Andersen-Tawil Syndrome (ATS) is a channelopathy caused by mutations in KCNJ2 gene. 26109178 2016
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Andersen-Tawil syndrome (ATS) is caused by mutations in KCNJ2 (Kir2.1). 27789106 2016
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE In this study, we describe the identification and functional analysis of a novel KCNJ2 mutation, Val302del, identified in a patient with ATS. 26103554 2015
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 Biomarker disease BEFREE We performed genetic analysis of KCNJ2 in 32 ATS probands and their family members and identified KCNJ2 mutations in 25 probands, 20 families who underwent extensive genetic testing. 24635491 2015
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Ion channelopathies in human induced pluripotent stem cell derived cardiomyocytes: a dynamic clamp study with virtual IK1. 25691870 2015
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 CausalMutation disease CLINVAR Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. 24861851 2015
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE We evaluated the efficacy and safety of flecainide for VAs in patients with ATS with KCNJ2 mutations. 25496985 2015
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Andersen-Tawil syndrome is caused in a majority of cases by mutations in KCNJ2, which encodes the Kir2.1 subunit of the inwardly rectifying potassium channel. 24574546 2014
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE We report the first patient diagnosed with ATS with a de novo c.G899C mutation in the KCNJ2 gene in 2010 who developed an autoimmune hyperthyroidism and TPP in 2013. 24849934 2014
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 CausalMutation disease CLINVAR Andersen-Tawil syndrome with early fixed myopathy. 25415519 2014
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Our aim was to describe the clinical course of ATS in a family, in which the proband survived aborted cardiac arrest (ACA) and genetic screening revealed a previously unknown mutation (c.271_282del12[p.Ala91_Leu94del]) in the KCNJ2 gene. 24047492 2013
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE The loss-of-function mutations in KCNJ2 in ATS1 affect the excitability of both skeletal and cardiac muscle, which underlies the cardiac arrhythmias and periodic paralysis associated with ATS. 24383070 2013
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 CausalMutation disease CLINVAR Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. 23867365 2013
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype. 23644778 2013
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE In the whole sample (665 patients), 15 out of 104 different CLCN1 mutations accounted for 60% of all patients with myotonia congenita, 11 out of 22 SCN4A mutations for 86% of paramyotonia congenita/sodium channel myotonia pedigrees, and 3 out of 17 KCNJ2 mutations for 42% of ATS pedigrees. 23516313 2013
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Loss of function mutations of KCNJ2 encoding Kir2.1 result in Andersen-Tawil syndrome, a disorder characterized by periodic paralysis, cardiac arrhythmia, and dysmorphic features. 23188060 2013