NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent
0.330 Biomarker disease MGD Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling. 28352650 2017
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent
0.330 GeneticVariation disease BEFREE Aim of the present study was to screen a Moroccan population with ASDII for NKX2-5 variants and to assess risk factors that may contribute to emergence of the disorder. 27752029 2017
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent
0.330 Biomarker disease BEFREE We studied NKX2-5 with respect to the presence or absence of PFO in stroke patients. 19464101 2009
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent
0.330 GeneticVariation disease BEFREE We sought to examine the importance of mutations in the cardiac transcription factor gene NKX2-5 in patients with an atrial septal defect (ASD), patent foramen ovale (PFO), or hypoplastic left heart syndrome (HLHS). 12798584 2003
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent
0.330 Biomarker disease HPO