NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Complex congenital heart disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0744669
Disease: Complex congenital heart disease
Complex congenital heart disease 		0.020 Biomarker disease BEFREE We studied the pathology and molecular genetics of NKX2-5 in diseased heart tissues of 68 patients with complex congenital heart disease (CHD), particularly atrial (ASD), ventricular (VSD), and atrioventricular septal defects (AVSD). 15161646 2004
CUI: C0744669
Disease: Complex congenital heart disease
Complex congenital heart disease 		0.020 GeneticVariation disease BEFREE Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. 15342699 2004