NEXN, nexilin F-actin binding protein, 91624

N. diseases: 36; N. variants: 8
Disease: Congestive heart failure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.020 Biomarker disease BEFREE Mutations in genes encoding different Z-disc proteins such as integrin-linked kinase (ILK) and nexilin have recently been shown to cause heart failure by distinct mechanisms such as disturbed mechanosensing, altered mechanotransduction or mechanical Z-disc destabilization. 20605922 2010
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.020 GeneticVariation disease BEFREE Expression in zebrafish of nexilin proteins encoded by NEXN mutant alleles induced Z-disk damage and heart failure, demonstrating a dominant-negative effect and confirming the disease-causing nature of these mutations. 19881492 2009