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
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle
0.110 GeneticVariation disease BEFREE Mutations and non-synonymous sequence variants in the CFC1 and CSX genes were the most commonly reported monogenic loci associated with DORV in humans; numerous genes are reported in murine models of DORV. 18456715 2008
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle
0.110 Biomarker disease HPO