DES, desmin, 1674

N. diseases: 330; N. variants: 63
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
0.700 Biomarker disease GENOMICS_ENGLAND Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia. 29212896 2018
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
0.700 GeneticVariation disease UNIPROT The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388 2015
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
0.700 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
0.700 GermlineCausalMutation disease ORPHANET Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. 17439987 2007
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
0.700 GeneticVariation disease UNIPROT Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. 17439987 2007
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
0.700 Biomarker disease CTD_human
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
0.700 Biomarker disease GENOMICS_ENGLAND
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
0.700 CausalMutation disease CLINVAR