GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Ostium secundum atrial septal defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		0.410 GeneticVariation disease BEFREE In an initial study of Australian subjects, we observed a weak association between GATA4 S377G and PFO/Stroke relative to Caucasian controls in whom ASD and PFO had been excluded (OR = 2.16; p = 0.02). 21673957 2011
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		0.410 GermlineCausalMutation disease ORPHANET A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect. 20347099 2010
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		0.410 GermlineCausalMutation disease ORPHANET Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 15810002 2005
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		0.410 GermlineCausalMutation disease ORPHANET GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 12845333 2003
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		0.410 GeneticVariation disease CLINVAR