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 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 Mutations of NKX2.5 and GATA4 genes in the development of congenital heart disease. 27154817 2016
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.200 GeneticVariation group BEFREE A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease. 27391137 2016
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 GeneticVariation group BEFREE Using induced pluripotent stem cells, Ang et al. elucidate how a mutation in the transcription factor GATA4 causes congenital heart disease. 27984717 2016
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 Three GATA4 gene mutations, 99 G>T, 487 C>T, and 354 A>C, have been reported in congenital heart disease (CHD). 28471988 2017
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 Functional mutant GATA4 identification and potential application in preimplantation diagnosis of congenital heart diseases. 29111206 2018
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 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 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 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 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 GeneticVariation group BEFREE Functional analysis of the congenital heart disease‑associated GATA4 H436Y mutation in vitro. 31322241 2019