Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
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
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.420 GermlineCausalMutation disease ORPHANET A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve. 25438918 2014
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
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
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.420 Biomarker disease HPO