NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Patent or persistent sinus venosus defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2910127
Disease: Patent or persistent sinus venosus defect
Patent or persistent sinus venosus defect 		0.200 Biomarker disease MGD Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling. 28352650 2017