Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913003
rs121913003
DES
0.800 GeneticVariation UNIPROT αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments. 28470624

2017
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
0.800 GeneticVariation UNIPROT Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts. 27733623

2016
dbSNP: rs121913003
rs121913003
DES
0.800 GeneticVariation UNIPROT The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388

2015
dbSNP: rs121913003
rs121913003
DES
0.800 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: 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
0.800 GeneticVariation UNIPROT A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. 23687351

2013
dbSNP: rs121913003
rs121913003
DES
0.800 GeneticVariation UNIPROT Nebulin binding impedes mutant desmin filament assembly. 23615443

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
0.800 GeneticVariation UNIPROT Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. 22395865

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
0.800 GeneticVariation UNIPROT De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. 20829228

2010
dbSNP: rs121913003
rs121913003
DES
0.800 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: rs121913003
rs121913003
DES
0.800 GeneticVariation UNIPROT Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. 16865695

2006
dbSNP: rs121913003
rs121913003
DES
0.800 GeneticVariation UNIPROT A novel desmin R355P mutation causes cardiac and skeletal myopathy. 16009553

2005
dbSNP: rs121913003
rs121913003
DES
0.800 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: 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
0.800 GeneticVariation UNIPROT Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. 14648196

2004
dbSNP: rs121913003
rs121913003
DES
0.800 GeneticVariation UNIPROT Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. 14711882

2004
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
0.800 GeneticVariation UNIPROT Desminopathies in muscle disease. 15495235

2004
dbSNP: rs121913003
rs121913003
DES
0.800 GeneticVariation UNIPROT Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment. 12766977

2003
dbSNP: rs121913003
rs121913003
DES
0.800 GeneticVariation UNIPROT Structural and functional analysis of a new desmin variant causing desmin-related myopathy. 11668632

2001
dbSNP: rs121913003
rs121913003
DES
0.800 GeneticVariation UNIPROT Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation. 10905661

2000
dbSNP: rs121913003
rs121913003
DES
T 0.800 CausalMutation CLINVAR Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation. 10905661

2000