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: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		0.400 GermlineCausalMutation ORPHANET A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve. 25438918

2014