Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation 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
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation 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
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 Biomarker 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
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation 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
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation 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
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 Biomarker 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
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation 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
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation 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
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation BEFREE In humans, GATA6 haploinsufficiency can cause pancreatic agenesis and heart defects. 24696446

2014
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation BEFREE Mutations in GATA6 have been previously associated with pancreatic agenesis and congenital heart disease. 24385578

2014
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation 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
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 GeneticVariation 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
CUI: C0000846
Disease: Agenesis
Agenesis 		0.100 Biomarker 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