NEXN, nexilin F-actin binding protein, 91624

N. diseases: 36; N. variants: 8
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151267
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 		0.900 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C3151267
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 		0.900 Biomarker disease CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C3151267
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 		0.900 Biomarker disease MGD Knock-out of nexilin in mice leads to dilated cardiomyopathy and endomyocardial fibroelastosis. 26659360 2016
CUI: C3151267
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 		0.900 Biomarker disease GENOMICS_ENGLAND Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. 20970104 2010
CUI: C3151267
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 		0.900 Biomarker disease CLINGEN Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. 20970104 2010
CUI: C3151267
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 		0.900 GeneticVariation disease UNIPROT Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. 20970104 2010
CUI: C3151267
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 		0.900 Biomarker disease CLINGEN Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. 19881492 2009
CUI: C3151267
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 		0.900 Biomarker disease GENOMICS_ENGLAND Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. 19881492 2009
CUI: C3151267
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 		0.900 CausalMutation disease CLINVAR
CUI: C3151267
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 		0.900 Biomarker disease CTD_human