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
Ostium secundum atrial septal defect
0.430 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
Ostium secundum atrial septal defect
0.430 GermlineCausalMutation disease ORPHANET Ablation of Nkx2-5 at mid-embryonic stage results in premature lethality and cardiac malformation. 21285290 2011
Ostium secundum atrial septal defect
0.430 Biomarker disease BEFREE We studied NKX2-5 with respect to the presence or absence of PFO in stroke patients. 19464101 2009
Ostium secundum atrial septal defect
0.430 GermlineCausalMutation disease ORPHANET Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 15810002 2005
Ostium secundum atrial septal defect
0.430 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
Ostium secundum atrial septal defect
0.430 Biomarker disease HPO