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 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 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: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		0.510 GeneticVariation phenotype BEFREE A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature. 31271559 2019
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.430 GeneticVariation disease BEFREE To determine the frequency of GATA6 mutations in CDH, we sequenced the gene in 378 patients with CDH. 24385578 2014
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.430 AlteredExpression disease BEFREE We hypothesized that diaphragmatic and pulmonary Gata-6 expression is decreased in the nitrofen-induced CDH model. 29196881 2018
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.430 GeneticVariation disease BEFREE A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature. 31271559 2019
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.410 GeneticVariation disease BEFREE Overall, we found gain-of-function mutations in GATA6 in both a family with early-onset AF and atrioventricular septal defects as well as in a family with sporadic, early-onset AF. 27756709 2017
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.360 GeneticVariation disease BEFREE GATA6 haploinsufficiency has recently been reported as the most frequent cause of neonatal diabetes with pancreatic agenesis. 22962692 2012
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.360 GeneticVariation disease BEFREE A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature. 31271559 2019
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.360 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
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.360 GeneticVariation disease BEFREE We investigated the role of GATA6 mutations in 171 subjects with neonatal diabetes of unknown genetic etiology from a cohort of 795 patients with neonatal diabetes. 23223019 2013
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.360 GeneticVariation disease BEFREE Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. 28049534 2017
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.360 GeneticVariation disease BEFREE A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report. 23639568 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.340 Biomarker disease BEFREE miR-196b promotes lung cancer cell migration and invasion through the targeting of GATA6. 29928408 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.340 GeneticVariation disease BEFREE Up to now, overexpression of the GATA6 gene has been shown to play an important role in several cancers, including lung cancer, digestive system tumors, breast cancer, and ovarian cancer. 31437305 2020
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.340 Biomarker disease BEFREE Gene expression and methylation status of GATA-4, GATA-5, and GATA-6 were analyzed with cell lines and primary human lung cancers. 15585625 2004
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.340 AlteredExpression disease BEFREE GATA6 expression in epithelial tumours other than lung cancer was also evaluated. 29469192 2018
CUI: C3888085
Disease: PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS 		0.310 GeneticVariation disease BEFREE A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay. 24310933 2014
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.310 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
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.150 GeneticVariation group BEFREE Further screenings of GATA6 mutations in patients with various forms of diabetes and/or congenital heart disease with other visceral malformation may reveal the impact of GATA6 mutations on diabetes and congenital malformation. 24310933 2014
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.150 GeneticVariation group 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
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.150 GeneticVariation group BEFREE These observations further broaden the clinical spectrum of diabetes associated with GATA6 haploinsufficiency. 22962692 2012
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.150 GeneticVariation group BEFREE In agreement with an increasing number of published cases, the wide phenotypic spectrum of GATA6 diabetes syndrome should draw the attention of both pediatric endocrinologists and geneticists. 23635550 2013
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.150 GeneticVariation group BEFREE Four parents with heterozygous GATA6 mutations were diagnosed with diabetes outside the neonatal period (12-46 years). 23223019 2013