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: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.700 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: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.700 Biomarker disease GENOMICS_ENGLAND A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719 2010
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.600 Biomarker disease GENOMICS_ENGLAND Role of GATA-6 and Bone Morphogenetic Protein-2 in Dexamethasone-Induced Cleft Palate Formation in Institute of Cancer Research Mice. 27391658 2016
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3280943
Disease: ATRIAL SEPTAL DEFECT 9
ATRIAL SEPTAL DEFECT 9 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3280943
Disease: ATRIAL SEPTAL DEFECT 9
ATRIAL SEPTAL DEFECT 9 		0.600 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: 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: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.360 Biomarker disease GENOMICS_ENGLAND
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: C3888085
Disease: PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS 		0.310 Biomarker disease GENOMICS_ENGLAND A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. 25356219 2013
CUI: C3888085
Disease: PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS 		0.310 Biomarker disease GENOMICS_ENGLAND GATA6 haploinsufficiency causes pancreatic agenesis in humans. 22158542 2011
CUI: C3888085
Disease: PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS 		0.310 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: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.730 GeneticVariation disease UNIPROT Identification of GATA6 sequence variants in patients with congenital heart defects. 20581743 2010
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.730 GeneticVariation disease UNIPROT A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719 2010
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.700 GeneticVariation disease UNIPROT GATA6 haploinsufficiency causes pancreatic agenesis in humans. 22158542 2011
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.600 GeneticVariation disease UNIPROT GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. 19666519 2009
CUI: C3280943
Disease: ATRIAL SEPTAL DEFECT 9
ATRIAL SEPTAL DEFECT 9 		0.600 GeneticVariation disease UNIPROT 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 GeneticVariation disease UNIPROT Identification of GATA6 sequence variants in patients with congenital heart defects. 20581743 2010
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: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		0.200 Biomarker phenotype RGD These results indicate that the development and progression of pulmonary hypertension is prevented by simvastatin by up-regulating GATA-6 expression in the lung tissue. 19842842 2009