Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.110 CausalMutation group CLINVAR Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 24385578 2014
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.110 GeneticVariation group BEFREE A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719 2010
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.110 Biomarker group HPO