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 CausalMutation group CLINVAR Congenital heart diseases and their association with the variant distribution features on susceptibility genes. 27426723 2017
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 Biomarker group BEFREE GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease. 31115957 2019
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 Biomarker group BEFREE NKX2-5 and GATA4 were the first congenital heart disease-causing genes identified by linkage analysis. 30834692 2019
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 Biomarker group BEFREE GATA4 is an important transcription factor involved in cardiac development and a well-known candidate gene associated with congenital heart disease (CHD). 30590232 2019
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 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 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 Biomarker group BEFREE Results showed that NKX2.5, GATA4, and FOG2 were susceptibility genes of congenital heart disease. 27118988 2016
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 GeneticVariation group BEFREE Familial ASDs and other forms of congenital heart disease may be seen with mutations in associated myocardial transcription factors NKX2.5, GATA4, TBX6, along with conduction disorders such as AV block. 30305954 2018
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 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 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 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 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
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 Search of Somatic Mutations of NKX2-5 and GATA4 Genes in Chinese Patients with Sporadic Congenital Heart Disease. 30121862 2019
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE Dominant GATA4 mutations cause congenital heart disease (CHD), specifically atrial and atrioventricular septal defects (ASDs and AVSDs). 28167794 2017
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 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 Identification of intronic-splice site mutations in GATA4 gene in Indian patients with congenital heart disease. 28843068 2017
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 GeneticVariation group BEFREE Identification of functional mutations in GATA4 in patients with congenital heart disease. 23626780 2013