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: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE Functional analysis of rare variants of GATA4 identified in Chinese patients with congenital heart defect. 31513339 2019
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE Our previous study reported a heterozygous GATA4 c.1306C>T (p.H436Y) mutation in four Chinese infants with congenital heart defects. 31322241 2019
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 Biomarker group BEFREE Many of the identified risk variants fall near genes where more deleterious mutations have been reported to cause serious heart defects in humans (GATA4, MYH6, NKX2-5, PITX2, TBX5)<sup>1</sup>, or near genes important for striated muscle function and integrity (for example, CFL2, MYH7, PKP2, RBM20, SGCG, SSPN). 30061737 2018
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE The mutations in GATA4 gene induce inherited atrial and ventricular septation defects, which is the most frequent forms of congenital heart defects (CHDs) constituting about half of all cases. 29377543 2018
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE Various GATA4 mutations are reported in familial as well as sporadic cases of congenital heart defects (CHDs). 30152191 2018
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE In accordance with previous findings on GATA4 mutation screening and in vitro experiments, this study confirms that GATA4 M310V mutation may lead to the development of the congenital heart defect, ASD. 25873328 2015
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE Congenital heart defects also are common in patients with GATA4 mutations and deletions, but the role of GATA4 in the developing human pancreas is unproven. 24696446 2014
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE Mice deficient for one copy of the Gata4 gene have been described with CDH and heart defects suggesting mutations in Gata4 can cause the phenotype in mice. 23696316 2013
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 Biomarker group RGD This study was designed to test the hypothesis that GATA-4 gene methylation would lead to congenital heart defects in vitamin A-deficient offspring. 23333085 2013
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE These findings suggest that C-terminus of GATA4 is critical to maintain DNA binding, and genetic mutations in this region may affect genes important for myocyte apoptosis and differentiation associated with congenital heart defects. 23745586 2013
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE In summary, the Gata4 G295S mutation functions as a hypomorph in vivo and leads to defects in cardiomyocyte proliferation during embryogenesis, which may contribute to the development of congenital heart defects in humans. 22589735 2012
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE Mutations in GATA4 are thought to be responsible for the congenital heart defects reported in association with this chromosomal deletion, and several familial point mutations leading to amino acid substitutions have also been identified. 21834050 2011
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects. 21276881 2011
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 Biomarker group BEFREE Haploinsufficiency of GATA4 is strongly associated with congenital heart defects (CHD). 21933911 2011
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 Biomarker group BEFREE In addition, GATA4 is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. 20592452 2010
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 Biomarker group BEFREE Congenital heart defects are among the most common developmental anomalies, affecting 1% of newborns, and the GATA4 gene is less frequently involved in these disorders. 20854389 2010
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE GATA4 mutations in 357 unrelated patients with congenital heart malformation. 20874241 2010
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE This study suggests that GATA4 and NKX2.5 missense mutations may be associated with congenital heart defects in pediatric Chinese patients. 21110066 2010
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 Biomarker group BEFREE The responsible gene for the heart defects in this syndrome has been identified as GATA4 on 8p23.1. 18393291 2008
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE Duplication of the GATA-binding protein 4 gene (GATA4) in this patient and others with and without heart defects, suggests it is a dosage-sensitive gene with variable penetrance. 16077733 2005
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.300 GeneticVariation group BEFREE GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 12845333 2003