Gene: DES ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57965306
rs57965306
DES
0.820 GeneticVariation BEFREE We investigated newly generated immortalized heterozygous and homozygous R349P desmin knock-in myoblasts in conjunction with the corresponding desminopathy mice as models for desminopathies to analyse major protein quality control processes in response to the presence of R349P mutant desmin. 30179276

2019
dbSNP: rs57965306
rs57965306
DES
0.820 GeneticVariation BEFREE The MyoRobot technology discloses a premature biomechanical decay of skeletal muscle fiber bundles derived from R349P desminopathy mice. 31341183

2019
dbSNP: rs57965306
rs57965306
DES
C 0.820 CausalMutation CLINVAR Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue. 27393313

2016
dbSNP: rs57965306
rs57965306
DES
C 0.820 CausalMutation CLINVAR The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388

2015
dbSNP: rs57965306
rs57965306
DES
0.820 GeneticVariation UNIPROT Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 25313375

2014
dbSNP: rs57965306
rs57965306
DES
C 0.820 CausalMutation CLINVAR Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. 20448486

2010
dbSNP: rs57965306
rs57965306
DES
C 0.820 CausalMutation CLINVAR Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. 17439987

2007
dbSNP: rs57965306
rs57965306
DES
C 0.820 CausalMutation CLINVAR Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. 15800015

2005
dbSNP: rs121913004
rs121913004
DES
0.810 GeneticVariation UNIPROT αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments. 28470624

2017
dbSNP: rs267607482
rs267607482
DES
0.810 GeneticVariation UNIPROT αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments. 28470624

2017
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments. 28470624

2017
dbSNP: rs121913004
rs121913004
DES
0.810 GeneticVariation UNIPROT Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts. 27733623

2016
dbSNP: rs267607482
rs267607482
DES
0.810 GeneticVariation UNIPROT Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts. 27733623

2016
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts. 27733623

2016
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 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
dbSNP: rs121913004
rs121913004
DES
0.810 GeneticVariation UNIPROT The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388

2015
dbSNP: rs267607482
rs267607482
DES
0.810 GeneticVariation UNIPROT The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388

2015
dbSNP: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR Autophagic vacuolar pathology in desminopathies. 25557463

2015
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388

2015
dbSNP: rs267607482
rs267607482
DES
0.810 GeneticVariation UNIPROT Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 25313375

2014
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 25313375

2014
dbSNP: rs121913004
rs121913004
DES
0.810 GeneticVariation UNIPROT Nebulin binding impedes mutant desmin filament assembly. 23615443

2013
dbSNP: rs121913004
rs121913004
DES
0.810 GeneticVariation UNIPROT A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. 23687351

2013
dbSNP: rs267607482
rs267607482
DES
0.810 GeneticVariation UNIPROT A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. 23687351

2013