GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Cardiac defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		0.070 Biomarker group BEFREE GATA4, a protein related to osteoblast differentiation and mineralization, whose acetylation is essential for cardiac defects. 29590644 2018
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		0.070 GeneticVariation group BEFREE Within this region, point mutations of the GATA4 gene have been shown to cause cardiac defects. 23696316 2013
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		0.070 Biomarker group BEFREE Although GATA4-deficient mice have both CDH and cardiac defects, no humans with cardiac defects attributed to GATA4 mutations have been reported to have CDH. 22723016 2012
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		0.070 GeneticVariation group BEFREE Cardiac defects are infrequent findings in individuals with 8p23.1 genomic duplications containing GATA4. 21933911 2011
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		0.070 GeneticVariation group BEFREE We describe the first report of pancretic agenesis with an associated cardiac defect and a mutation in the GATA4 gene. 20854389 2010
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		0.070 GeneticVariation group BEFREE Previously, we described a point mutation in GATA4 that segregated with cardiac defects in a family with autosomal dominant disease. 19084512 2009
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		0.070 GeneticVariation group BEFREE The absence of cardiac defects in the cousins confirms the more proximal location of gene(s) causing these abnormalities in other reported cases with microscopically visible 8pter deletions and supports involvement of the GATA4 gene. 11251999 2001