NEXN, nexilin F-actin binding protein, 91624

N. diseases: 36; N. variants: 8
Disease: Cardiomyopathy, Dilated, 1CC ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751084
Disease: Cardiomyopathy, Dilated, 1CC
Cardiomyopathy, Dilated, 1CC 		0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C2751084
Disease: Cardiomyopathy, Dilated, 1CC
Cardiomyopathy, Dilated, 1CC 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. 20970104 2010
CUI: C2751084
Disease: Cardiomyopathy, Dilated, 1CC
Cardiomyopathy, Dilated, 1CC 		0.700 GeneticVariation disease UNIPROT Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. 19881492 2009
CUI: C2751084
Disease: Cardiomyopathy, Dilated, 1CC
Cardiomyopathy, Dilated, 1CC 		0.700 Biomarker disease GENOMICS_ENGLAND Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. 19881492 2009
CUI: C2751084
Disease: Cardiomyopathy, Dilated, 1CC
Cardiomyopathy, Dilated, 1CC 		0.700 CausalMutation disease CLINVAR
CUI: C2751084
Disease: Cardiomyopathy, Dilated, 1CC
Cardiomyopathy, Dilated, 1CC 		0.700 Biomarker disease CTD_human
CUI: C2751084
Disease: Cardiomyopathy, Dilated, 1CC
Cardiomyopathy, Dilated, 1CC 		0.700 GeneticVariation disease CLINVAR