Tetralogy of Fallot
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
|
24385578 |
2014 |
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 |
Tetralogy of Fallot
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot.
|
23020118 |
2012 |
Tetralogy of Fallot
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.
|
20631719 |
2010 |
Tetralogy of Fallot
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Identification of GATA6 sequence variants in patients with congenital heart defects.
|
20581743 |
2010 |
Tetralogy of Fallot
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.
|
20631719 |
2010 |
Tetralogy of Fallot
|
0.730 |
SusceptibilityMutation
|
disease |
ORPHANET |
Identification of GATA6 sequence variants in patients with congenital heart defects.
|
20581743 |
2010 |
Tetralogy of Fallot
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
Tetralogy of Fallot
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Tetralogy of Fallot
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
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 |
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 |
|
|
|
ATRIAL SEPTAL DEFECT 9
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
ATRIAL SEPTAL DEFECT 9
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|