Disease: Familial Periodic Paralysis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.400 GeneticVariation disease BEFREE KCNJ2 mutations cause a variable phenotype, with dysmorphic features seen in all patients studied, a high penetrance of periodic paralysis in males and ventricular arrhythmia with a risk of sudden cardiac death. 24861851 2015
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.400 GeneticVariation disease BEFREE Loss-of-function mutations of the KCNJ2 gene encoding for the inward rectifier potassium channel subunit Kir2.1 cause Andersen-Tawil Syndrome (ATS), a rare genetic disorder characterised by periodic paralysis, ventricular arrhythmias, and dysmorphic features. 26103554 2015
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.400 GeneticVariation disease BEFREE Recently, two genomewide association studies have found a susceptibility locus on chromosome 17q24.3 near the KCNJ2 gene, which is responsible for another cause of periodic paralysis, the Andersen-Tawil syndrome (ATS). 24849934 2014
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.400 GeneticVariation disease BEFREE Mutations in KCNJ2, a gene encoding the inward rectifier K(+) channel Kir2.1, are associated with Andersen-Tawil syndrome (ATS), which is characterized by (1) ventricular tachyarrhythmias associated with QT (QU)-interval prolongation, (2) periodic paralysis, and (3) dysmorphic features. 21493816 2011
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.400 GeneticVariation disease BEFREE Taken together, our data suggest the inclusion of the KCNJ2 gene in the molecular screening of patients with periodic paralysis, even when the classical AS dysmorphic features are not present. 17324964 2007
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.400 GeneticVariation disease BEFREE Mutations of the KCNJ2 gene are a major underlying cause of Andersen-Tawil syndrome (ATS), a rare autosomal dominant inherited disorder that is characterized by periodic paralysis, cardiac arrhythmias, and developmental dysmorphic features. 17211524 2007
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.400 GeneticVariation disease BEFREE Loss-of-function mutations in the KCNJ2 cause approximately 50% of Andersen-Tawil Syndrome (ATS) characterized by a classic triad of periodic paralysis, ventricular arrhythmia, and dysmorphic features. 17341397 2007
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.400 GeneticVariation disease BEFREE Mutations in KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, have been identified in Andersen syndrome (or Andersen-Tawil syndrome), an inherited disorder characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. 16541386 2006
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.400 Biomarker disease GENOMICS_ENGLAND Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. 16217063 2005
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.400 Biomarker disease GENOMICS_ENGLAND Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. 16217063 2005
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.400 GeneticVariation disease BEFREE Evaluation of candidate loci culminated in the identification of a heterozygous missense mutation (R67W) in KCNJ2, the gene encoding the inward-rectifying potassium current, Kir2.1, in 41 members of a kindred in which ventricular arrhythmias (13 of 16 female members [81%]) and periodic paralysis (10 of 25 male members [40%]) segregated as autosomal dominant traits with sex-specific variable expressivity. 12148092 2002
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.400 GeneticVariation disease BEFREE Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. 12045162 2002
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.400 GeneticVariation disease LHGDN Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. 12045162 2002