GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280939
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 5
ATRIOVENTRICULAR SEPTAL DEFECT 5 		0.500 GeneticVariation disease UNIPROT Identification of GATA6 sequence variants in patients with congenital heart defects. 20581743 2010
CUI: C3280939
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 5
ATRIOVENTRICULAR SEPTAL DEFECT 5 		0.500 Biomarker disease GENOMICS_ENGLAND A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719 2010
CUI: C3280939
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 5
ATRIOVENTRICULAR SEPTAL DEFECT 5 		0.500 Biomarker disease GENOMICS_ENGLAND