GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		0.510 GeneticVariation phenotype BEFREE A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature. 31271559 2019
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		0.510 Biomarker phenotype RGD Downregulation of GATA4 and GATA6 in the heart of rats with nitrofen-induced diaphragmatic hernia. 18280291 2008
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		0.510 Biomarker phenotype CTD_human Downregulation of GATA4 and GATA6 in the heart of rats with nitrofen-induced diaphragmatic hernia. 18280291 2008
CUI: C3280939
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 5
ATRIOVENTRICULAR SEPTAL DEFECT 5 		0.500 GeneticVariation disease UNIPROT Identification of GATA6 sequence variants in patients with congenital heart defects. 20581743 2010
CUI: C3280939
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 5
ATRIOVENTRICULAR SEPTAL DEFECT 5 		0.500 Biomarker disease GENOMICS_ENGLAND A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719 2010
CUI: C3280939
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 5
ATRIOVENTRICULAR SEPTAL DEFECT 5 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.430 GeneticVariation disease BEFREE A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature. 31271559 2019
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.430 AlteredExpression disease BEFREE We hypothesized that diaphragmatic and pulmonary Gata-6 expression is decreased in the nitrofen-induced CDH model. 29196881 2018
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.430 GeneticVariation disease BEFREE To determine the frequency of GATA6 mutations in CDH, we sequenced the gene in 378 patients with CDH. 24385578 2014
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.430 SusceptibilityMutation disease ORPHANET To determine the frequency of GATA6 mutations in CDH, we sequenced the gene in 378 patients with CDH. 24385578 2014
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.430 CausalMutation disease CLINVAR To determine the frequency of GATA6 mutations in CDH, we sequenced the gene in 378 patients with CDH. 24385578 2014
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.430 Biomarker disease HPO
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.410 GeneticVariation disease BEFREE Overall, we found gain-of-function mutations in GATA6 in both a family with early-onset AF and atrioventricular septal defects as well as in a family with sporadic, early-onset AF. 27756709 2017
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.410 Biomarker disease HPO
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.410 Biomarker disease CTD_human
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		0.400 GermlineCausalMutation disease ORPHANET A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719 2010
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		0.400 Biomarker disease HPO
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		0.400 Biomarker disease HPO
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		0.400 Biomarker disease CTD_human
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.360 GeneticVariation disease BEFREE A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature. 31271559 2019
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.360 Biomarker disease GENOMICS_ENGLAND Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. 28049534 2017
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.360 GeneticVariation disease BEFREE Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. 28049534 2017
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.360 Biomarker disease BEFREE The combination of neonatal diabetes and pancreatic agenesis/hypoplasia should alert the clinician to the possibility of a GATA6 gene abnormality. 27098067 2016
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.360 GeneticVariation disease BEFREE We investigated the role of GATA6 mutations in 171 subjects with neonatal diabetes of unknown genetic etiology from a cohort of 795 patients with neonatal diabetes. 23223019 2013
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.360 GeneticVariation disease BEFREE A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report. 23639568 2013