Gene: DES ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts. 27733623

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
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: 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 Nebulin binding impedes mutant desmin filament assembly. 23615443

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
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT Nebulin binding impedes mutant desmin filament assembly. 23615443

2013