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: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		0.900 GeneticVariation disease UNIPROT Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis. 27984724 2016
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		0.900 Biomarker disease MGD Congenital heart disease-causing Gata4 mutation displays functional deficits in vivo. 22589735 2012
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		0.900 GeneticVariation disease UNIPROT A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect. 20347099 2010
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		0.900 GeneticVariation disease UNIPROT A novel mutation of GATA4 in a familial atrial septal defect. 20659440 2010
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		0.900 Biomarker disease GENOMICS_ENGLAND GATA4 sequence variants in patients with congenital heart disease. 18055909 2007
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		0.900 GeneticVariation disease UNIPROT GATA4 sequence variants in patients with congenital heart disease. 18055909 2007
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		0.900 GeneticVariation disease UNIPROT Spectrum of heart disease associated with murine and human GATA4 mutation. 17643447 2007
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		0.900 GeneticVariation disease UNIPROT Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 15810002 2005
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		0.900 GeneticVariation disease UNIPROT GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 12845333 2003
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		0.900 GeneticVariation disease CLINVAR
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		0.900 CausalMutation disease CLINVAR
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		0.900 Biomarker disease CTD_human
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