NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Syncope ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039070
Disease: Syncope
Syncope 		0.120 Biomarker phenotype BEFREE Heterozygous mutations in human protein coding genes NKX2-5 and RBM20 are associated with a wide array of pathological phenotypes some of which are sudden cardiac death, unexplained syncope and either combined or isolated congenital heart diseases such as dilated cardiomyopathy. 30611920 2020
CUI: C0039070
Disease: Syncope
Syncope 		0.120 GeneticVariation phenotype BEFREE A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? 16896344 2006
CUI: C0039070
Disease: Syncope
Syncope 		0.120 Biomarker phenotype HPO