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: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
0.460 GeneticVariation disease 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: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
0.460 GeneticVariation disease BEFREE In summary, GATA4 is implicated in both familial and sporadic CDH, and our data suggests that WES may be a powerful tool to discover rare variants for CDH. 23138528 2013
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
0.460 Biomarker disease CTD_human We hypothesized that diaphragmatic GATA4 expression is downregulated in the nitrofen CDH model. 23426975 2013
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
0.460 Biomarker disease BEFREE Anterior CDH is also seen in Gata4(+/-) mice and has been described in association with 8p23.1 deletions in humans. 22723016 2012
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
0.460 GeneticVariation disease BEFREE Our family-based strategy uncovers new chromosomal regions possibly associated with disease, and suggests that non-coding variants of GATA4 and NR2F2 may contribute to the development of isolated CDH. 23165927 2012
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
0.460 Biomarker disease BEFREE The aim of this study was to examine the pulmonary gene expression of COUP-TFII, FOG2, and GATA4 in the nitrofen model of CDH. 19853750 2009
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
0.460 Biomarker disease BEFREE Here we focused on genes from 15q26, the best-characterized CDH-critical region, as well as FOG2 and GATA4, genes singled out from CDH-critical regions at 8q22-8q23 and 8p23.1, respectively. 18263670 2008
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
0.460 Biomarker disease HPO