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: 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: 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 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 SusceptibilityMutation disease ORPHANET 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 CausalMutation disease CLINVAR 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 Biomarker disease HPO