NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Atrial Septal Defect with Atrioventricular Conduction Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3502353
Disease: Atrial Septal Defect with Atrioventricular Conduction Defects
Atrial Septal Defect with Atrioventricular Conduction Defects 		0.700 Biomarker disease MGD Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling. 28352650 2017
CUI: C3502353
Disease: Atrial Septal Defect with Atrioventricular Conduction Defects
Atrial Septal Defect with Atrioventricular Conduction Defects 		0.700 GermlineCausalMutation disease ORPHANET Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene. 19049681 2009
CUI: C3502353
Disease: Atrial Septal Defect with Atrioventricular Conduction Defects
Atrial Septal Defect with Atrioventricular Conduction Defects 		0.700 GermlineCausalMutation disease ORPHANET Clinical and genetic investigation of atrial septal defect with atrioventricular conduction defect in a large consanguineous Tunisian family. 18375255 2008
CUI: C3502353
Disease: Atrial Septal Defect with Atrioventricular Conduction Defects
Atrial Septal Defect with Atrioventricular Conduction Defects 		0.700 Biomarker disease GENOMICS_ENGLAND