Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280781
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 4
ATRIOVENTRICULAR SEPTAL DEFECT 4
0.600 GeneticVariation disease UNIPROT Spectrum of heart disease associated with murine and human GATA4 mutation. 17643447 2007
CUI: C3280781
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 4
ATRIOVENTRICULAR SEPTAL DEFECT 4
0.600 GeneticVariation disease CLINVAR A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. 15235040 2004
CUI: C3280781
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 4
ATRIOVENTRICULAR SEPTAL DEFECT 4
0.600 GeneticVariation disease CLINVAR GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 12845333 2003
CUI: C3280781
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 4
ATRIOVENTRICULAR SEPTAL DEFECT 4
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3280781
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 4
ATRIOVENTRICULAR SEPTAL DEFECT 4
0.600 CausalMutation disease CLINVAR
CUI: C3280781
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 4
ATRIOVENTRICULAR SEPTAL DEFECT 4
0.600 Biomarker disease GENOMICS_ENGLAND