Gene: DES ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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
dbSNP: rs267607482
rs267607482
DES
0.810 GeneticVariation UNIPROT Nebulin binding impedes mutant desmin filament assembly. 23615443

2013
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT Nebulin binding impedes mutant desmin filament assembly. 23615443

2013
dbSNP: rs267607490
rs267607490
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: rs121913004
rs121913004
DES
0.810 GeneticVariation UNIPROT Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. 22395865

2012
dbSNP: rs267607482
rs267607482
DES
0.810 GeneticVariation UNIPROT Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. 22395865

2012
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. 22395865

2012
dbSNP: rs121913004
rs121913004
DES
0.810 GeneticVariation UNIPROT De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. 20829228

2010
dbSNP: rs267607482
rs267607482
DES
0.810 GeneticVariation UNIPROT De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. 20829228

2010
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. 20829228

2010
dbSNP: rs121913004
rs121913004
DES
0.810 GeneticVariation UNIPROT Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. 19879535

2009