NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Cardiomyopathy, Familial Idiopathic ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516909
rs397516909
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.010 GeneticVariation BEFREE As a result, a novel heterozygous NKX2-5 mutation, p.S146W, was identified in a family with DCM inherited as an autosomal dominant trait, which co-segregated with DCM in the family with complete penetrance. 25503402 2015