B3GAT3, beta-1,3-glucuronyltransferase 3, 26229

N. diseases: 75; N. variants: 5
Disease: Bicuspid aortic valve ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.110 AlteredExpression disease BEFREE The study shows that reduced GlcAT-I activity impairs skeletal as well as heart development and results in variable combinations of heart malformations, including mitral valve prolapse, ventricular septal defect, and bicuspid aortic valve. 21763480 2011
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.110 Biomarker disease HPO