Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE Genetic model analysis shown that the minor allele T of GJA5 rs35594137 was associated with a decreased AF risk under the recessive model (OR = 0.40; 95% CI: 0.19-0.86; p = 0.018) and the minor allele G of KCNJ2 rs8079702 was associated with an increased AF risk in the recessive model (OR = 2.31; 95% CI: 1.20-4.42; p = 0.012). 31270966 2019
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE The results showed that there was significant difference in the expression of CVF-I (t=3.827, P<0.01), Cx40 (t=4.21, P<0.01), and groups of the ID that keeping the electrical transmission and atrial electrical coupling synchronization (t=15.116, P<0.001), but no significant difference was found in total IDs (t=0.611, P=0.543) between patients with AF and those with sinus rhythm. 31346988 2019
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 Biomarker disease BEFREE Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants. 29587382 2018
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 Biomarker disease BEFREE Various genes involved in Ca<sup>2+</sup> handling or gap junction formation ( Ryr2, Jph2, Gja5), potassium channels ( Kcnh2, Kcnk3), and genes implicated in atrial fibrillation ( Tbx5) were part of this ETV1-driven gene regulatory network. 29930145 2018
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE Distribution of the Cx40 promoter B polymorphism (-<i>26A</i> > <i>G</i>) was different in structural AF when compared to controls (<i>p</i> = 0.03). 29351227 2018
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE The A96S, G38D, and P88S Cx40 mutations slow conduction and increased the propensity for inducible AF. 28457700 2018
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 AlteredExpression disease BEFREE In addition, a positive correlation between the mRNA expression Cx40 and KCNA5 was observed in the atrial myocytes of patients with AF (P<0.05; r=0.42). 29201233 2017
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 Biomarker disease BEFREE The findings still suggested that miR-208a-3p may be involved in human chronic AF by mediating atrial Cx40 remolding, and may represent a potential therapeutic target for AF. 29285063 2017
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE Logistic regression analysis revealed that Cx40 genetic polymorphisms increase AF risk in Uyghur and Han residents of Xinjiang. 27813566 2016
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE In this study, the correlation between the Cx 40 polymorphism (rs35594137) and AF was investigated in patients with AF in the Xinjiang, Turpan, and Kashi regions and in controls. 26634538 2015
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE Three mutant forms of connexin40 (Cx40; A96S, M163V, and G38D), the primary component of the atrial gap junction channel, are associated with atrial fibrillation and retain the ability to form functional channels. 26503720 2015
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE Several Cx40 mutants have been identified in patients with atrial fibrillation (AF). 24973497 2014
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE Immunoblotting showed reductions of Cx40 protein (to 77% or 49% of control values in samples from patients with paroxysmal and chronic AF, respectively), but no significant changes of Cx43 protein levels in samples from AF patients. 25200600 2014
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 Biomarker disease BEFREE Gap junctions such as Cx40, Cx43 and Cx45 were proven to participate in both automaticity and conductivity of electrical impulses in SAN and atrial tissue, which was accepted as another link between SND and AF. 24825742 2014
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE A germline mutation in the GJA5 gene, which encodes Cx40, resulting in a truncated Cx40 (Q49X) was identified in a large Chinese family with lone (idiopathic) atrial fibrillation (AF). 24626989 2014
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 Biomarker disease BEFREE A gain-of-hemichannel function in these two atrial fibrillation-linked Cx40 mutants may provide a novel mechanism underlying the etiology of atrial fibrillation. 24733048 2014
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE Sequencing results of KCNQ1, KCNH2, SCN5A, KCNA5, KCND3, KCNE1, 2, 5, KCNJ2, SCN1-3B, NPPA, and GJA5 from 192 early-onset lone AF patients were compared with data from the National Heart, Lung, and Blood Institute Exome Variant Server consisting of 6503 persons from 18 different cohort studies. 24144883 2014
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE More recently germline autosomal dominantly inherited mutations in GJA5 have been found in early onset lone AF patients in several families over generations. 24656738 2014
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE Cx40 mutations are principally linked to atrial fibrillation. 24966059 2014
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 Biomarker disease BEFREE Remodeling in AF seems to be similar in men and women, with a tendency for women exhibiting somewhat stronger AF-induced changes in Cx40, which is probably a secondary effect because there is nothing known about hormone sensitivity of the Cx40 promoter, and a not significant tendency for higher Cx43 and collagen I. 23315605 2013
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE The entire coding region and splice sites of the GJA5 gene were initially sequenced in 310 unrelated AF patients. 23292621 2013
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.500 GeneticVariation disease BEFREE Different heterozygous mutations in the coding region for Cx40 were identified in patients with AF. 24060583 2013