DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		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
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 GeneticVariation UNIPROT Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts. 27733623 2016
dbSNP: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 GeneticVariation UNIPROT The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388 2015
dbSNP: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		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: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		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
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 GeneticVariation UNIPROT Nebulin binding impedes mutant desmin filament assembly. 23615443 2013
dbSNP: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		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
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 GeneticVariation UNIPROT De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. 20829228 2010
dbSNP: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		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: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		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: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 GeneticVariation UNIPROT Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. 16865695 2006
dbSNP: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 GeneticVariation UNIPROT A novel desmin R355P mutation causes cardiac and skeletal myopathy. 16009553 2005
dbSNP: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		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: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		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: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 GeneticVariation UNIPROT Desminopathies in muscle disease. 15495235 2004
dbSNP: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 GeneticVariation UNIPROT Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. 14711882 2004
dbSNP: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		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: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 GeneticVariation UNIPROT Structural and functional analysis of a new desmin variant causing desmin-related myopathy. 11668632 2001
dbSNP: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 GeneticVariation UNIPROT Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 10717012 2000
dbSNP: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 GeneticVariation UNIPROT Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation. 10905661 2000
dbSNP: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		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: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 GeneticVariation UNIPROT Missense mutations in desmin associated with familial cardiac and skeletal myopathy. 9697706 1998
dbSNP: rs267607482
rs267607482
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		G 0.810 CausalMutation CLINVAR