NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Atrial Septal Defects ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758277832
rs758277832
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0018817
Disease:
Atrial Septal Defects 		0.010 GeneticVariation BEFREE Additionally, p.Phe145Leu in NKX2-5 associates with high degree atrioventricular block and atrial septal defect ( P<1.4×10<sup>-4</sup>). 30354339 2018