Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1867005
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 		0.700 Biomarker GENOMICS_ENGLAND Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia. 29212896

2018
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1867005
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 		0.700 Biomarker GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1867005
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 		0.700 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
CUI: C1867005
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 		0.700 Biomarker GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049

2010
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1867005
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 		0.700 GermlineCausalMutation ORPHANET Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. 17439987

2007
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1867005
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 		0.700 GeneticVariation UNIPROT Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. 17439987

2007
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1867005
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 		0.700 Biomarker CTD_human

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1867005
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 		0.700 Biomarker GENOMICS_ENGLAND