Gene: GATA6 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 GeneticVariation disease 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 		0.100 GeneticVariation disease BEFREE Heterozygous de novo mutations in GATA6 are the most frequent cause of pancreatic agenesis in humans. 30629940 2019
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 Biomarker disease BEFREE GATA4 and GATA6 play essential, but redundant, roles in pancreas formation in mice, and <i>GATA6</i> mutations cause pancreatic agenesis in humans. 29263149 2018
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 GeneticVariation disease BEFREE Induced pluripotent stem cells were created from a pancreas agenesis patient with a mutation in GATA6. 28196690 2017
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 GeneticVariation disease BEFREE Mutations in GATA6 should be strongly considered in cases of diabetes due to pancreatic hypoplasia or agenesis, and potentially affected family members should be tested regardless of phenotype. 28049534 2017
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 Biomarker disease BEFREE The combination of neonatal diabetes and pancreatic agenesis/hypoplasia should alert the clinician to the possibility of a GATA6 gene abnormality. 27098067 2016
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 GeneticVariation disease BEFREE The novel mutation described in this case extends the list of GATA6 mutations causing pancreatic agenesis and cardiac malformations. 24433315 2015
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 GeneticVariation disease BEFREE These results show how genetic mutations in GATA6 may lead to functional inactivity and pancreatic agenesis in humans. 25706805 2015
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 GeneticVariation disease BEFREE In humans, GATA6 haploinsufficiency can cause pancreatic agenesis and heart defects. 24696446 2014
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 GeneticVariation disease BEFREE Mutations in GATA6 have been previously associated with pancreatic agenesis and congenital heart disease. 24385578 2014
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 GeneticVariation disease BEFREE Mutations in PDX1, PTF1A, HNF1B, EIF2AK3, RFX6 and GATA6 genes have been shown to result in pancreatic agenesis or hypoplasia. 23639568 2013
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 GeneticVariation disease BEFREE GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. 23223019 2013
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 Biomarker disease BEFREE We sequenced GATA6 in 8 children with diabetes and inborn pancreas abnormalities, i.e. hypoplasia or aplasia in which other known candidate genes causing monogenic diabetes and pancreatic defects had been excluded. 23635550 2013