NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Ventricular Septal Defects ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906775
rs387906775
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0018818
Disease:
Ventricular Septal Defects 		0.010 GeneticVariation BEFREE A novel heterozygous NKX2-5 mutation, p.P59A, was identified in a family with autosomal dominant inherited VSD. 21165553 2011