Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.300 GermlineCausalMutation ORPHANET A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve. 25438918

2014