Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
0.700 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
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
0.700 GeneticVariation disease UNIPROT GATA6 haploinsufficiency causes pancreatic agenesis in humans. 22158542 2011
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
0.700 Biomarker disease GENOMICS_ENGLAND A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719 2010
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
0.700 Biomarker disease GENOMICS_ENGLAND
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
0.700 Biomarker disease CTD_human
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
0.700 CausalMutation disease CLINVAR