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: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 Biomarker group BEFREE The detection rate was 10/48 (20.8 per cent) in the presence of VSD, ASD2 or combined ASD2 + VSD, the detection rate was 29/39 (74.3 per cent) in the presence of other forms of congenital heart disease. 9742568 1998
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE We conclude that haploinsufficiency at the GATA4 locus is often seen in patients with del(8)(p23.1) and congenital heart disease. 10096597 1999
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE In support of this, mutations of gene for GATA-4 or for its cofactors have been associated with human congenital heart disease. 15249177 2004
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE Screening of 99 Danish patients with congenital heart disease for GATA4 mutations. 17253934 2006
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease. 17352393 2007
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE To gain insights into congenital heart disease (CHD), we have been analyzing cardiac-specific transcription factor genes, including GATA4, which encodes a zinc finger transcription factor. 17592645 2007
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE We then asked if GATA4 mutation occurs in humans with these forms of congenital heart disease (CHD). 17643447 2007
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE GATA4 sequence variants in patients with congenital heart disease. 18055909 2007
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE GATA4 mutations in 486 Chinese patients with congenital heart disease. 18672102 2009
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease. 19302747 2009
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease. 20592452 2010
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE Mutations in GATA4 have been related to human congenital heart diseases (CHDs) in several studies, whereas mutations in GATA6 have only recently been reported in patients with persistent truncus arteriosus. 20631719 2010
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. 21110066 2010
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE GATA4 specific nonsynonymous single-nucleotide polymorphisms in congenital heart disease patients of Mysore, India. 21631294 2011
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 Biomarker group BEFREE The human transcription factors (TFs) GATA4, NKX2.5 and TBX5 form part of the core network necessary to build a human heart and are involved in Congenital Heart Diseases (CHDs). 21990232 2012
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE Congenital heart disease-causing Gata4 mutation displays functional deficits in vivo. 22589735 2012
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 Biomarker group BEFREE Mutations in cardiac transcription factor genes, such as GATA-4, NKX2-5 and TBX5 genes, have been associated to the patients with familial and isolated congenital heart disease (CHD). 22885181 2012
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE These results suggest that genomic GATA4 and TFAP2B missense mutations may be associated with nonfamilial congenital heart disease with diverse clinical phenotypes in patients with congenital heart disease from southern China. 22959235 2013
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE Identification of functional mutations in GATA4 in patients with congenital heart disease. 23626780 2013
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE Genetic mutations in GATA4, a transcriptional factor, have been found to cause congenital heart diseases. 23745586 2013
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE The cardiac transcription factor GATA4 is essential for cardiac development, and mutations in this gene have been implicated in a wide variety of congenital heart diseases in both animal models and humans. 24041700 2013
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 Biomarker group BEFREE GATA4 transgenic mice as an in vivo model of congenital heart disease. 25873328 2015
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE c.620C>T mutation in GATA4 is associated with congenital heart disease in South India. 25928801 2015
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group 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: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE Common variants in 3'UTR of the GATA4 gene jointly interact, affecting the congenital heart disease susceptibility, probably by altering microRNA posttranscriptional regulation. 27118528 2016