NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
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 		0.420 GeneticVariation disease BEFREE Analyses performed by gender revealed different variants associated with BAV in men (EGFR rs533525993 and TEX26 rs12857479) and women (NOTCH1 rs61751489, TGFBR2 rs1155705, and NKX2-5 rs2277923). 26708639 2016
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.420 GermlineCausalMutation disease ORPHANET A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve. 25438918 2014
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.420 GeneticVariation disease BEFREE We therefore investigated the presence of mutations in NKX2-5 among patients with bicuspid aortic valve and associated aneurysm. 16733161 2006
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.420 Biomarker disease HPO