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: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect
0.320 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: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect
0.320 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: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect
0.320 Biomarker disease CTD_human