NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Heart Septal Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		0.420 GeneticVariation group BEFREE In addition to two polymorphisms of NKX2-5 (rs2277923, rs28936670) variant in the cardiac septal defect, two variants in GATA4 (rs368418329, rs56166237) and one variant in TBX5 (rs6489957) seem to have a role in the pathogenesis of congenital heart disease. 30834692 2019
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		0.420 GeneticVariation group BEFREE Somatic mutations in NKX2-5 do not represent an important aetiologic pathway in pathologic cardiac development in patients with cardiac septal defects. 19181906 2009
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		0.420 Biomarker group HPO
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		0.420 Biomarker group GENOMICS_ENGLAND