Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.070 GeneticVariation group BEFREE GATA6 gene variants come along with possible features such as pancreas agenesis/hypoplasia, neonatal diabetes and congenital heart defect. 31271559 2019
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.070 GeneticVariation group BEFREE Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations. 25706805 2015
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.070 GeneticVariation group BEFREE In humans, GATA6 haploinsufficiency can cause pancreatic agenesis and heart defects. 24696446 2014
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.070 Biomarker group BEFREE Given the well-established biological role of GATA6 in cardiac development, a deletion of GATA6 is very likely responsible for our patient's complex congenital heart defects. 23696469 2013
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.070 GeneticVariation group BEFREE A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report. 23639568 2013
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.070 GeneticVariation group BEFREE Here, we report that compound Gata4/Gata5 and Gata5/Gata6 mutants die embryonically or perinatally due to severe congenital heart defects. 21839733 2011
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.070 AlteredExpression group BEFREE GATA6 encodes for a cardiac transcription factor, which is broadly expressed in the developing heart and is critical for normal cardiac morphogenesis, making it a candidate gene for congenital heart defects in humans. 20581743 2010