GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 GeneticVariation group BEFREE We have performed High resolution melting (HRM) mutation scanning of GATA4 coding exons of nonsyndrome 100 patients as a case group including 39 atrial septal defects (ASD), 57 ventricular septal defects (VSD) and four patients with both above defects and 50 healthy individuals as a control group. 29377543 2018
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 AlteredExpression group BEFREE Furthermore, the mutation disrupted the synergistic activation between NKX2.5 and GATA binding protein 4, another cardiac core transcription factor associated with ASD. 28259982 2017
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 PosttranslationalModification group BEFREE Our study broadens the mutation spectrum of the GATA4 gene and reveals for the first time a mutation at the methylation position of GATA4 associated with ASD. 26376067 2016
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 GeneticVariation group BEFREE The present study found that GATA4 genetic variations are associated with ASD, TOF and VSD in South Indian patients. 25928801 2015
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 GeneticVariation group BEFREE Our previous study indicated that 8 patients from a family with a history of congenital heart disease had simple atrial septal defect (ASD) and carried the same mutation at codon 310 in the GATA4 gene. 25873328 2015
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 GeneticVariation group BEFREE NKX2.5, GATA4, and TBX5 contribute to congenital ASD. 24498650 2014
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 Biomarker group BEFREE NEXN inhibits GATA4 and leads to atrial septal defects in mice and humans. 24866383 2014
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 GeneticVariation group BEFREE In conclusion, we identified a mutation in the GATA4 Kozak sequence that likely contributes to the pathogenesis of ASD. 25099673 2014
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 Biomarker group MGD Congenital heart disease-causing Gata4 mutation displays functional deficits in vivo. 22589735 2012
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 GeneticVariation group BEFREE Mutations in multiple members of the evolutionarily conserved cardiac transcription factor network, including GATA4, cause or predispose to ASDII and PFO. 21673957 2011
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 GeneticVariation group BEFREE In this study, the entire coding region of GATA4, a gene encoding a zinc-finger transcription factor crucial to embryogenesis, was initially sequenced in 120 unrelated patients with ASD. 21373748 2011
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 GeneticVariation group BEFREE In addition, we did not identify any mutations in GATA4 in three familial atrial septal defects and two familial ventricular septal defects. 19915893 2010
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 GeneticVariation group BEFREE A novel non-synonymous variant, c.839C>T (T280M) in GATA4, was identified and segregated with all the ASD patients within this Chinese family. 20659440 2010
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 GeneticVariation group BEFREE Here, we examine a Chinese family with isolated ASD to find out whether there is any mutation in NKX2.5 or GATA4 accounting for the etiology. 20347099 2010
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 GeneticVariation group BEFREE Finally, useful information is yet available with regard to genes causing isolated CHDs in individuals who do not have a genetic syndrome (an example is the mutation of NKX2.5 and GATA4 genes causing atrial septal defect). 17255809 2007
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 GeneticVariation group BEFREE Five mutations, including two GATA4 and three NKX2.5 mutations, were identified in 31.3% of the probands with ASD, and three of them were novel. 15810002 2005
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 GeneticVariation group LHGDN A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. 15235040 2004
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 GeneticVariation group BEFREE The cardiac transcription factor GATA4 has not previously been implicated in a human disorder but a recent paper by Garg et al. provides evidence of mutations in GATA4 that cause atrial septal defects. 14557051 2003
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.400 Biomarker group HPO