Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline.
|
29567486 |
2018 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy.
|
28256248 |
2017 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
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, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
|
28600387 |
2017 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mechanistic basis of desmosome-targeted diseases.
|
23911551 |
2013 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
|
23863954 |
2013 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mechanistic basis of desmosome-targeted diseases.
|
23911551 |
2013 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
|
23863954 |
2013 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.
|
21062920 |
2011 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
|
19863551 |
2010 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.
|
18957847 |
2009 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.
|
18957847 |
2009 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.
|
18957847 |
2009 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.
|
17033975 |
2006 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|