CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy
0.150 GeneticVariation group BEFREE This study provides strong evidence that heterozygosity for the c.643_663del21 deletion in CAPN3 results in a dominantly inherited muscle disease. 27259757 2016
CUI: C0026848
Disease: Myopathy
Myopathy
0.150 GeneticVariation group BEFREE Because ES readily identified a previously reported homozygous mutation in the CAPN3 gene for an individual with an undiagnosed limb girdle muscular dystrophy, we evaluated ES as a generalizable clinical diagnostic tool by assessing the targeting efficiency and sequencing coverage of 88 genes associated with muscle disease (MD) and spastic paraplegia (SPG). 22311686 2012
CUI: C0026848
Disease: Myopathy
Myopathy
0.150 GeneticVariation group BEFREE One family was reclassified as having a different myopathy based on genetic and clinical data after linkage analysis excluded all known LGMD2 genes. 20623375 2010
CUI: C0026848
Disease: Myopathy
Myopathy
0.150 GeneticVariation group BEFREE A total of 550 muscle biopsies underwent multiple protein screening (including calpain-3 functional assay) and extensive gene mutation analysis to examine the frequency of LGMD subtypes in patients with distinct clinical phenotypes (severe childhood-onset LGMD, adult-onset LGMD, distoproximal myopathy, and asymptomatic hyperCKemia). 19380703 2009
CUI: C0026848
Disease: Myopathy
Myopathy
0.150 GeneticVariation group BEFREE The first mutations in the third filament system causing human muscle disease were identified in calpain 3 in 1995, followed by telethonin and titin. 19181097 2008
CUI: C0026848
Disease: Myopathy
Myopathy
0.150 Biomarker group HPO
CUI: C0026848
Disease: Myopathy
Myopathy
0.150 GeneticVariation group CLINVAR
CUI: C0026848
Disease: Myopathy
Myopathy
0.150 CausalMutation group CLINVAR