Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 CausalMutation disease CLINVAR "Disease mutations in the ""head"" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties." 19763525 2009
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 CausalMutation disease CLINVAR "Mutations in desmin's carboxy-terminal ""tail"" domain severely modify filament and network mechanics." 20171226 2010
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 Biomarker disease CTD_human 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 30055862 2018
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease BEFREE Desminopathy is a familial or sporadic cardiac and skeletal muscular dystrophy associated with mutations in desmin. 14991347 2004
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 Biomarker disease BEFREE Desminopathy is a neuromuscular disorder associated with the accumulation of the protein desmin. 15078418 2004
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease BEFREE Desmin-related myofibrillar myopathy (DRM) is a cardiac and skeletal muscle disease caused by mutations in the desmin (DES) gene. 17325244 2007
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease BEFREE Desminopathy is one of the most common intermediate filament human disorders associated with mutations in closely interacting proteins, desmin and alphaB-crystallin. 19181099 2008
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 Biomarker disease CTD_human Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES). 20718792 2011
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 Biomarker disease GENOMICS_ENGLAND Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES). 20718792 2011
Entrez Id: 213
Gene Symbol: ALB
ALB 		0.010 Biomarker disease BEFREE DRM patients showed significant reductions in albumin and transferrin concerning the normonourished group, and also displayed higher levels of hsCRP, IL6, and TNFα, and the soluble adhesion molecules VCAM-1 and ICAM-1. 31398886 2019
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1 		0.010 GeneticVariation disease BEFREE Hsp27 suppresses the formation of inclusion bodies induced by expression of R120G alpha B-crystallin, a cause of desmin-related myopathy. 12861387 2003
Entrez Id: 8988
Gene Symbol: HSPB3
HSPB3 		0.010 GeneticVariation disease BEFREE Hsp27 suppresses the formation of inclusion bodies induced by expression of R120G alpha B-crystallin, a cause of desmin-related myopathy. 12861387 2003
Entrez Id: 3316
Gene Symbol: HSPB2
HSPB2 		0.010 GeneticVariation disease BEFREE Hsp27 suppresses the formation of inclusion bodies induced by expression of R120G alpha B-crystallin, a cause of desmin-related myopathy. 12861387 2003
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease BEFREE 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 		1.000 CausalMutation disease CLINVAR A dysfunctional desmin mutation in a patient with severe generalized myopathy. 9736733 1998
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease UNIPROT A dysfunctional desmin mutation in a patient with severe generalized myopathy. 9736733 1998
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease BEFREE A missense mutation (R120G) in CryAB that is linked to human desmin-related myopathy (DRM), has proved in transgenic (TG) mice to be causative, likely through compromising the function of both CryAB and desmin filaments and inducing aberrant protein aggregation. 15572040 2004
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease 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 		1.000 Biomarker disease CLINGEN A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. 11061256 2000
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT A novel desmin R355P mutation causes cardiac and skeletal myopathy. 16009553 2005
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 GeneticVariation disease CLINVAR A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. 20696008 2011
Entrez Id: 1674
Gene Symbol: DES
DES 		1.000 CausalMutation disease CLINVAR A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin. 14991347 2004