GATA5, GATA binding protein 5, 140628

N. diseases: 101; N. variants: 12
Disease: Aortic Valve Disease 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.300 GermlineCausalMutation disease ORPHANET GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. 24638895 2014