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 		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
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 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 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 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 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 		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 		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