NKX2-5, NK2 homeobox 5, 1482

N. diseases: 36; N. variants: 45
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561619801
rs1561619801
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		CT 0.700 CausalMutation CLINVAR Sequence variations of NKX2-5 and HAND1 genes in patients with atrial isomerism. 21561848 2011
dbSNP: rs1561619801
rs1561619801
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		CT 0.700 CausalMutation CLINVAR Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. 15689439 2005
dbSNP: rs1561619801
rs1561619801
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		CT 0.700 CausalMutation CLINVAR Functional analyses of three CsxNkx-2.5 mutations that cause human congenital heart disease. 10948187 2000
dbSNP: rs1561619801
rs1561619801
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		CT 0.700 CausalMutation CLINVAR Congenital heart disease caused by mutations in the transcription factor NKX2-5. 9651244 1998