NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
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 A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve. 25438918 2014