NKX2-5, NK2 homeobox 5, 1482

N. diseases: 36; N. variants: 45
Disease: Atrial Septal Defect with Atrioventricular Conduction Defects ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72554028
rs72554028
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3502353
Disease:
Atrial Septal Defect with Atrioventricular Conduction Defects 		G 0.700 CausalMutation CLINVAR NKX2-6 mutation predisposes to familial atrial fibrillation. 25319568 2014
dbSNP: rs72554028
rs72554028
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3502353
Disease:
Atrial Septal Defect with Atrioventricular Conduction Defects 		G 0.700 CausalMutation CLINVAR Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia. 24880466 2014