GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Congenital hypoplasia of pancreas ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas 		0.140 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
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas 		0.140 Biomarker disease BEFREE The lack of suppression of PDX1, PTF1A, GATA4, and GATA6 indicates that MODY5-mediated pancreatic hypoplasia is mechanistically independent. 26876668 2016
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas 		0.140 GeneticVariation disease BEFREE His diabetes resulted from a de novo mutation of the GATA6 gene resulting in pancreatic hypoplasia. 27098067 2016
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas 		0.140 GeneticVariation disease BEFREE GATA6 mutations in carriers exhibited hypoplastic pancreas with absent head in 1 patient and with increased echogenicity and decreasing exocrine function in the other patient. 23635550 2013
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas 		0.140 Biomarker disease HPO