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 Comprehensive mutational analysis of the 5 LQTS-causing channel genes, KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), and KCNE2 (LQT6), along with KCNJ2 (Andersen-Tawil syndrome) and targeted analysis of 18 CPVT1-associated exons in RyR2, was performed with the use of denaturing high-performance liquid chromatography and direct DNA sequencing. 15466642 2004
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 Reported here is a novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome. 19931173 2009
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 Biomarker disease BEFREE LQT5 by invalidating the Kcne1 K+ channel beta-subunit and the Andersen syndrome by invalidation of the KCNJ2 gene encoding for a cardiac inward rectifier K+ channel. 15176421 2004
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 GeneticVariation disease BEFREE KCNJ2 mutations are an important cause of ATS in the UK. 16217063 2005
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Mutations of the KCNJ2 gene should be considered in genetic subclassification of LQTS patients, even in the absence of overt manifestations of AS. 15276028 2004
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 Aside from KCNJ2-based ATS, the genetic basis of this disease in nearly 40% of cases is unknown. 15176430 2004
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Do KCNJ2 mutations occur in patients lacking this triad and lacking a family history of ATS? 17341397 2007
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Mutational analyses of KCNJ2 were performed in 57 unrelated probands showing typical (≥2 ATS features) and atypical (only 1 of the ATS features or CPVT) ATS.We identified 24 mutation carriers. 22589293 2012
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K(+) channel Kir2.1. 12163457 2002
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE In one of the patients, the PRKAR1A gene responsible for Carney Complex and the KCNJ2 gene causal for Andersen syndrome are deleted. 22166941 2012
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry. 21148745 2011
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 GeneticVariation disease BEFREE Periodic paralysis, cardiac arrhythmia and bone features are the hallmark of Andersen's syndrome (AS), a rare disorder caused by mutations in the KCNJ2 gene that encodes for the inward rectifier K(+)-channel Kir2.1. 17324964 2007
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Many Andersen syndrome cases have been associated with loss-of-function mutations in the inward rectifier K(+) channel Kir2.1 encoded by KCNJ2. 18690034 2008
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 Mutations in KCNJ2, the gene encoding the inward-rectifying K+ channel Kir2.1, cause the cardiac, skeletal muscle, and developmental phenotypes of Andersen-Tawil syndrome (ATS; also known as Andersen syndrome). 12796536 2003
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2. 22286118 2011
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the KCNJ2 gene, which codes cardiac and skeletal inward rectifying K+ channels (Kir2.1), produce Andersen's syndrome, which is characterized by periodic paralysis, cardiac arrhythmia, and dysmorphic features. 12045162 2002
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue. 20382953 2010
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 A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome. 21493816 2011
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.800 GeneticVariation disease BEFREE The ECG features of Andersen-Tawil syndrome (ATS) patients with KCNJ2 mutations (ATS1) have not been systematically assessed. 15911703 2005