NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: VENTRICULAR SEPTAL DEFECT 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs375086983
rs375086983
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3280785
Disease:
VENTRICULAR SEPTAL DEFECT 3 		0.700 GeneticVariation UNIPROT A novel NKX2-5 mutation in familial ventricular septal defect. 21165553 2011
dbSNP: rs387906775
rs387906775
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3280785
Disease:
VENTRICULAR SEPTAL DEFECT 3 		0.700 GeneticVariation UNIPROT A novel NKX2-5 mutation in familial ventricular septal defect. 21165553 2011
dbSNP: rs375086983
rs375086983
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3280785
Disease:
VENTRICULAR SEPTAL DEFECT 3 		0.700 GeneticVariation UNIPROT Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. 21110066 2010
dbSNP: rs387906775
rs387906775
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3280785
Disease:
VENTRICULAR SEPTAL DEFECT 3 		0.700 GeneticVariation UNIPROT Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. 21110066 2010