CARDIOMYOPATHY, DILATED, 1I
|
0.900 |
Biomarker
|
disease |
MGD |
The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function.
|
10591032 |
1999 |
CARDIOMYOPATHY, DILATED, 1I
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Desmin mutation responsible for idiopathic dilated cardiomyopathy.
|
10430757 |
1999 |
CARDIOMYOPATHY, DILATED, 1I
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CARDIOMYOPATHY, DILATED, 1I
|
0.900 |
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 |
CARDIOMYOPATHY, DILATED, 1I
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.
|
24200904 |
2013 |
CARDIOMYOPATHY, DILATED, 1I
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.
|
26724190 |
2016 |
CARDIOMYOPATHY, DILATED, 1I
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
CARDIOMYOPATHY, DILATED, 1I
|
0.900 |
Biomarker
|
disease |
MGD |
Disruption of muscle architecture and myocardial degeneration in mice lacking desmin.
|
8794866 |
1996 |
CARDIOMYOPATHY, DILATED, 1I
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetics of dilated cardiomyopathy.
|
20186049 |
2010 |
CARDIOMYOPATHY, DILATED, 1I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CARDIOMYOPATHY, DILATED, 1I
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |