GJA5, gap junction protein alpha 5, 2702

N. diseases: 97; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.050 AlteredExpression phenotype BEFREE The potential mechanism of arrhythmia may be due in part to the disturbed expression of ANP and CX40. 26762269 2016
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.050 Biomarker phenotype BEFREE Recent studies have reported an association between nucleotide substitutions in the connexin40 (Cx40) and connexin43 (Cx43) genes (GJA5 and GJA1, respectively) and cardiac arrhythmias. 22382502 2012
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.050 GeneticVariation phenotype BEFREE Most recently, genetic studies of Cx43 and Cx40 indicate that genetic variations in these genes may predispose to arrhythmia vulnerability in humans. 16601450 2006
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.050 GeneticVariation phenotype LHGDN Coinheritance of Cx40 polymorphisms is a possible genetic factor that modifies the clinical manifestation of this inherited arrhythmia. 16188595 2005
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.050 GeneticVariation phenotype BEFREE Coinheritance of Cx40 polymorphisms is a possible genetic factor that modifies the clinical manifestation of this inherited arrhythmia. 16188595 2005
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.050 GeneticVariation phenotype BEFREE The present study examined whether these Cx40 polymorphisms were associated with increased atrial vulnerability in vivo and arrhythmia susceptibility. 15297374 2004