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