Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype. 23644778 2013
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome. 24047492 2013
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease BEFREE Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. 23867365 2013
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. 23595086 2013
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		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
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		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
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR Phenotype variability in patients carrying KCNJ2 mutations. 22589293 2012
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease BEFREE Here, we report the identification of a novel KCNJ2 mutation (G211T), resulting in the amino acid substitution D71Y, in a patient presenting with signs and symptoms of Andersen-Tawil syndrome. 22186697 2012
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 Biomarker disease BEFREE KCNJ2 is the only gene implicated in Andersen-Tawil syndrome. 21875779 2012
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome. 22002906 2012
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles. 22806368 2012
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		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
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome. 21493816 2011
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		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
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease BEFREE A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome. 21493816 2011
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue. 20382953 2010
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease BEFREE Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue. 20382953 2010
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease BEFREE In this report, we describe a heterozygous missense mutation (p.Thr192Ile) in the KCNJ2 gene, which segregates with the disease phenotype in an ATS family. 20111058 2010
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		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
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 Biomarker disease CTD_human Reported here is a novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome. 19931173 2009
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 Biomarker disease BEFREE KCNJ2 remains the only gene linked to Andersen's syndrome; this gene encodes for the alpha-subunit of the strong inward-rectifier K+ channel Kir2.1. 19570891 2009
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease BEFREE Unlike typical Andersen-Tawil syndrome-associated KCNJ2 mutations, which show dominant negative loss of function, Kir2.1WT+V227F coexpression yielded I(K1) indistinguishable from Kir2.1-WT under basal conditions. 19843922 2009
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 Biomarker disease LHGDN 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
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		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
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 18452873 2008