Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
0.310 Biomarker disease GENOMICS_ENGLAND Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. 28049534 2017
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
PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
0.310 Biomarker disease GENOMICS_ENGLAND A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. 25356219 2013
PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
0.310 Biomarker disease GENOMICS_ENGLAND GATA6 haploinsufficiency causes pancreatic agenesis in humans. 22158542 2011