Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
0.060 GeneticVariation group BEFREE However, interpreting the phenotype of Cx43<sup>-/-</sup> mice was complicated by the fact that global deletion of Cx43 causes perinatal death due to heart defects during embryogenesis. 27899284 2017
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
0.060 AlteredExpression group BEFREE The present study investigated the cardiac mRNA levels of Cx43 and ZO1, using forensic autopsy materials consisting of 41 control cases without any disease or structural abnormality of the heart (group 1), 32 deaths due to acute ischemic heart disease related to coronary atherosclerosis without apparent myocardial necrosis (group 2), and 29 traumatic deaths with coronary atherosclerosis (group 3). 26972693 2016
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
0.060 GeneticVariation group BEFREE Conversely, those patients with type III syndactyly and congenital heart defect should be screened for GJA1 mutations. 24115525 2013
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
0.060 GeneticVariation group BEFREE Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in man. 19297036 2010
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
0.060 Biomarker group BEFREE Individual mutations of Cx46, Cx50 and Cx43 have been found in cataract or heart malformations. 10767631 2000
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
0.060 GeneticVariation group BEFREE Previous studies have identified different mutations in the cytoplasmic tail of the connexin 43 (cx 43) gene in six patients from a series of six sporadic cases with defects of laterality and severe heart malformations. 9201627 1997