NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs530270916
rs530270916
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 GeneticVariation UNIPROT Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 15810002 2005
dbSNP: rs530270916
rs530270916
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 GeneticVariation UNIPROT Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. 15342699 2004
dbSNP: rs530270916
rs530270916
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with congenital heart disease. 14607454 2003
dbSNP: rs530270916
rs530270916
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 GeneticVariation UNIPROT Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 10587520 1999
dbSNP: rs530270916
rs530270916
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 GeneticVariation UNIPROT Congenital heart disease caused by mutations in the transcription factor NKX2-5. 9651244 1998