GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Tetralogy of Fallot ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 Biomarker disease BEFREE This review focuses on the well-characterized genes gata4, nkx2.5, jag1, foxc2, tbx5, and tbx1, which have been previously implicated in TOF. 29045289 2018
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease BEFREE Among the available genomic studies, the key findings in Africa were variants in GATA4 (P193H), MTHFR 677TT, and MTHFR 1298CC that were associated with atrial septal defect, ventricular septal defect (VSD), Tetralogy of Fallot (TOF), and patent ductus arteriosus phenotypes and 22q.11 deletion, which is associated with TOF. 29762087 2018
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease BEFREE Functionally significant, novel GATA4 variants are frequently associated with Tetralogy of Fallot. 30152191 2018
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 Biomarker disease BEFREE Furthermore, the mutation reduced the synergistic activation between TBX20 and NKX2.5 as well as GATA4, two other transcriptional factors previously associated with various CHD, encompassing TOF. 28553164 2017
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 AlteredExpression disease BEFREE Furthermore, the mutation significantly decreased the synergistic activation of a downstream target gene between HAND1 and GATA4, another cardiac core transcription factor associated with TOF. 27942761 2017
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease BEFREE Variants in the GATA4 gene have been implicated in several congenital heart diseases (CHD), such as the tetralogy of Fallot (ToF), atrial septal defect (ASD), ventricular septal defect (VSD), atrioventricular septal defect (AVSD), and dilated cardiomyopathy (DCM). 26376067 2016
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease BEFREE The TBX5 variation p.Pro108Thr, located in the T-box domain, was identified in a patient with tricuspid atresia, an exon-intron boundary variation of GATA4 (IVS4+5G>A) was detected in a Tetralogy of Fallot patient and an 8p23 microdeletion was detected in one patient with atrioventricular septal defect and psychomotor delay. 26490186 2016
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 AlteredExpression disease BEFREE We used primary cells derived from the RV of infants with TOF to show a direct link between scaRNA levels and splice isoforms of several genes that regulate heart development (e.g., GATA4, NOTCH2, DAAM1, DICER1, MBNL1 and MBNL2). 25916634 2015
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 AlteredExpression disease BEFREE In the developing heart, overexpression of HEY2 is predicted to cause decreased expression of the cardiac transcription factor GATA4 which, in turn, has been shown to cause tetralogy of Fallot. 25832314 2015
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease BEFREE The present study found that GATA4 genetic variations are associated with ASD, TOF and VSD in South Indian patients. 25928801 2015
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GermlineCausalMutation disease ORPHANET GATA4 loss-of-function mutations underlie familial tetralogy of fallot. 24000169 2013
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 PosttranslationalModification disease BEFREE NKX2-5, GATA4 and HAND1 are essential for heart development, however, little is known regarding their epigenetic regulation in the pathogenesis of tetralogy of fallot (TOF). 24182332 2013
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 Biomarker disease BEFREE This finding suggests that BVES as a novel TOF gene may provide further insight into the molecular mechanisms involved in TOF. 23403794 2013
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease UNIPROT GATA4 loss-of-function mutations underlie familial tetralogy of fallot. 24000169 2013
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease BEFREE To our knowledge, this report associates GATA4 loss-of-function mutations with familial TOF for the first time, providing novel insight into the molecular mechanism involved in TOF and suggesting potential implications for the early prophylaxis and allele-specific therapy of TOF. 24000169 2013
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease BEFREE Although limited by sample size, our study suggests that somatic mutations in NKX2–5 and GATA4 are not a common cause of isolated TOF or HLH. 22043484 2011
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease BEFREE Our study shows no evidence of somatic NKX2-5, GATA4 and HAND1 mutations playing a role in the pathogenesis of TOF. 21519287 2011
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease BEFREE GATA4 mutations are found in patients with different isolated congenital heart defects (CHDs), mostly cardiac septal defects and tetralogy of Fallot. 20592452 2010
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease UNIPROT Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. 21110066 2010
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease BEFREE Two novel mutations in the coding region of GATA4 were identified, namely, 487C >T (Pro163Ser) in exon 1 in a child with tetralogy of Fallot and 1220C >A (Pro407Gln) in exon 6 in a pediatric patient with outlet membranous ventricular septal defect. 21110066 2010
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease UNIPROT GATA4 mutations in 486 Chinese patients with congenital heart disease. 18672102 2009
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 Biomarker disease BEFREE In the present review, we hypothesize that mutations in the GATA binding protein 4 (GATA-4)/friend of GATA-2 transcriptional complex and NKX2.5 gene may play a role in the abnormal migration and behavior of precardiac cells during heart development in patients with ToF. 19818949 2009
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease BEFREE Two heterozygous missense mutations of c.1220C > A and c.1273G > A in GATA4 gene, which cause the amino acid residue changes of P407Q and D425N in GATA4, were found in a patient with tetralogy of Fallot and a patient with ventricular septal defect, respectively. 19302747 2009
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease BEFREE A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot. 16470721 2006
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation disease LHGDN A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot. 16470721 2006