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: rs57965306
rs57965306
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		C 0.820 CausalMutation CLINVAR Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. 20448486 2010
dbSNP: rs57965306
rs57965306
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		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
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		C 0.820 CausalMutation CLINVAR Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue. 27393313 2016
dbSNP: rs57965306
rs57965306
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		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: rs57965306
rs57965306
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		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
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.820 GeneticVariation BEFREE The MyoRobot technology discloses a premature biomechanical decay of skeletal muscle fiber bundles derived from R349P desminopathy mice. 31341183 2019
dbSNP: rs57965306
rs57965306
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		C 0.820 CausalMutation CLINVAR The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388 2015
dbSNP: rs57965306
rs57965306
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.820 GeneticVariation BEFREE We investigated newly generated immortalized heterozygous and homozygous R349P desmin knock-in myoblasts in conjunction with the corresponding desminopathy mice as models for desminopathies to analyse major protein quality control processes in response to the presence of R349P mutant desmin. 30179276 2019