|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
|
28527814 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.
|
21859740 |
2011 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.
|
15941723 |
2005 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
|
23671136 |
2013 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.
|
12373648 |
2002 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
|
25227139 |
2015 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.
|
28442525 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
|
20031617 |
2009 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
|
20716751 |
2010 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.
|
20940358 |
2011 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.
|
25516398 |
2015 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians.
|
23500315 |
2013 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients.
|
30993396 |
2019 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
|
20864495 |
2010 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
|
23810894 |
2013 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.
|
19279339 |
2009 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
|
27831900 |
2016 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
|
23671136 |
2013 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.
|
25820315 |
2015 |
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |