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 CausalMutation disease CLINVAR Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 24385578 2014
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.730 GeneticVariation disease BEFREE This is the first report on the link of somatic GATA6 mutation to TOF, providing novel insight into the molecular mechanism involved in TOF. 23175051 2013
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.730 GeneticVariation disease BEFREE Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot. 23020118 2012
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.730 GeneticVariation disease BEFREE A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719 2010
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: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.730 SusceptibilityMutation disease ORPHANET Identification of GATA6 sequence variants in patients with congenital heart defects. 20581743 2010
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.730 Biomarker disease CTD_human
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: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.730 Biomarker disease HPO
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
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
0.700 GeneticVariation disease UNIPROT GATA6 haploinsufficiency causes pancreatic agenesis in humans. 22158542 2011
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
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
0.700 Biomarker disease GENOMICS_ENGLAND
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
0.700 Biomarker disease CTD_human
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
0.700 CausalMutation disease CLINVAR
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: 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: 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
CONOTRUNCAL HEART MALFORMATIONS (disorder)
0.600 GeneticVariation disease UNIPROT GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. 19666519 2009
CONOTRUNCAL HEART MALFORMATIONS (disorder)
0.600 Biomarker disease GENOMICS_ENGLAND
CONOTRUNCAL HEART MALFORMATIONS (disorder)
0.600 Biomarker disease CTD_human
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 CTD_human