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 |
|
|
|
Cardiomyopathies
|
0.450 |
GeneticVariation
|
group |
BEFREE |
DSP_Lys1581Glu and DSC2_p.Thr275Met were classified according to American College of Medical Genetics and Genomics consensus statement guidelines as pathogenic or likely pathogenic for arrhythmogenic cardiomyopathy in three patients (30%).
|
31024045 |
2019 |
Cardiomyopathies
|
0.450 |
Biomarker
|
group |
BEFREE |
Therefore, we developed a mouse model overexpressing desmocollin-2 to determine its potential contribution to cardiomyopathy and intercellular adhesion pathology.
|
28339476 |
2017 |
Cardiomyopathies
|
0.450 |
GeneticVariation
|
group |
BEFREE |
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.
|
26310507 |
2015 |
Cardiomyopathies
|
0.450 |
Biomarker
|
group |
BEFREE |
Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers.
|
25497880 |
2014 |
Cardiomyopathies
|
0.450 |
GeneticVariation
|
group |
BEFREE |
A homozygous truncation mutation in DSC2 leads to a cardiac-restricted phenotype of an early onset biventricular arrhythmogenic cardiomyopathy.
|
23863954 |
2013 |
Cardiomyopathies
|
0.450 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
Cardiomyopathies
|
0.450 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Hepatitis, Toxic
|
0.300 |
Biomarker
|
disease |
CTD_human |
Characterization of chemically induced liver injuries using gene co-expression modules.
|
25226513 |
2014 |
Drug-Induced Liver Disease
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Characterization of chemically induced liver injuries using gene co-expression modules.
|
25226513 |
2014 |
Hepatitis, Drug-Induced
|
0.300 |
Biomarker
|
disease |
CTD_human |
Characterization of chemically induced liver injuries using gene co-expression modules.
|
25226513 |
2014 |