Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 10717012

2000
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment. 12766977

2003
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. 10545598

1999
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT A novel desmin R355P mutation causes cardiac and skeletal myopathy. 16009553

2005
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
0.810 GeneticVariation UNIPROT Missense mutations in desmin associated with familial cardiac and skeletal myopathy. 9697706

1998
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: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. 14648196

2004
dbSNP: rs267607490
rs267607490
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
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT Structural and functional analysis of a new desmin variant causing desmin-related myopathy. 11668632

2001
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: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. 14711882

2004
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. 16865695

2006
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation. 10905661

2000
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation BEFREE 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: 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: rs267607490
rs267607490
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 The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388

2015
dbSNP: rs267607490
rs267607490
DES
0.810 GeneticVariation UNIPROT Desminopathies in muscle disease. 15495235

2004
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 Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. 15800015

2005
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: 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: rs267607490
rs267607490
DES
T 0.810 CausalMutation CLINVAR Autophagic vacuolar pathology in desminopathies. 25557463

2015
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