Gene: DES ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 22153487

2012
dbSNP: rs267607490
rs267607490
DES
T 0.810 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 22106715

2011
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. 17221859

2007
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. 20448486

2010
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR "Mutations in desmin's carboxy-terminal ""tail"" domain severely modify filament and network mechanics." 20171226

2010
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452

2013
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR Autophagic vacuolar pathology in desminopathies. 25557463

2015
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR Except for two different DES mutations (p.N342D and p.R454W) in two families with DRM and severe biventricular cardiomyopathy, respectively, we did not find additional DES mutations in ARVC(-like) patients. 20423733

2010
dbSNP: rs121913001
rs121913001
DES
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913003
rs121913003
DES
T 0.800 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
dbSNP: rs121913003
rs121913003
DES
T 0.800 CausalMutation CLINVAR Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies. 15050448

2004
dbSNP: rs121913003
rs121913003
DES
T 0.800 CausalMutation CLINVAR Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. 23425003

2013
dbSNP: rs121913003
rs121913003
DES
T 0.800 CausalMutation CLINVAR High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 22153487

2012
dbSNP: rs121913003
rs121913003
DES
T 0.800 CausalMutation CLINVAR Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly. 21262226

2011
dbSNP: rs121913003
rs121913003
DES
T 0.800 CausalMutation CLINVAR A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin. 14991347

2004
dbSNP: rs121913003
rs121913003
DES
T 0.800 CausalMutation CLINVAR Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation. 10905661

2000
dbSNP: rs121913003
rs121913003
DES
T 0.800 CausalMutation CLINVAR Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 10717012

2000
dbSNP: rs121913005
rs121913005
DES
T 0.800 CausalMutation CLINVAR Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. 17221859

2007
dbSNP: rs121913005
rs121913005
DES
T 0.800 CausalMutation CLINVAR Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. 18653338

2008
dbSNP: rs121913005
rs121913005
DES
T 0.800 CausalMutation CLINVAR Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D. 22215463

2012
dbSNP: rs121913005
rs121913005
DES
T 0.800 CausalMutation CLINVAR High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 22153487

2012
dbSNP: rs121913005
rs121913005
DES
T 0.800 CausalMutation CLINVAR Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly. 21262226

2011
dbSNP: rs61130669
rs61130669
DES
T 0.800 GeneticVariation CLINVAR