NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Cardiac Arrhythmia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893907
rs104893907
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0003811
Disease:
Cardiac Arrhythmia 		0.010 GeneticVariation BEFREE This novel mutation (p.Tyr256X) was inherited in a three-generation family causing five individuals to have cardiac anomalies ranging from ASD to arrhythmias. 16896344 2006