Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments. 28470624

2017

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts. 27733623

2016

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388

2015

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. 23687351

2013

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Here we compare the effect nebulin binding has on the assembly kinetics of desmin and three desminopathy-causing mutant desmin variants carrying mutations in the head, rod, or tail domains of desmin (S46F, E245D, and T453I). 23615443

2013

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. 22395865

2012

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 22106715

2011

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. 20829228

2010

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 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

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. 18061454

2008

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Mutations in the intermediate filament (IF) protein desmin (DES), a major cytoskeletal component of myocytes, lead to severe forms of "desminopathy," which affects cardiac, skeletal, and smooth muscle. 17221859

2007

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. 16376610

2006

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Mutations in the desmin gene have been recognized as a cause of desminopathy, a familial or sporadic disorder characterized by skeletal muscle weakness, often associated with cardiomyopathy or respiratory insufficiency. 16865695

2006

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 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

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT A novel desmin R355P mutation causes cardiac and skeletal myopathy. 16009553

2005

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Desmin ( DES) mutations have been recognized as a cause of desmin-related myopathy (OMIM 601419), or desminopathy, a disease characterized by progressive limb muscle weakness and accumulation of desmin-reactive granular aggregates in the myofibers. 14648196

2004

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Desminopathies in muscle disease. 15495235

2004

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. 14711882

2004

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Desmin myopathy. 14724127

2004

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment. 12766977

2003

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. 12620971

2003

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Structural and functional analysis of a new desmin variant causing desmin-related myopathy. 11668632

2001

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation. 10905661

2000

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. 11061256

2000

Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation UNIPROT We examined 22 patients from 8 families with dominantly inherited myofibrillar or desmin-related myopathy and 2 patients with sporadic disease and analyzed the desmin gene for mutations, using complementary DNA (cDNA) amplified from muscle-biopsy specimens and genomic DNA extracted from blood lymphocytes. 10717012

2000