GATA6, GATA binding protein 6, 2627

N. diseases: 162; N. variants: 11
Disease: PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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