Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.
|
19279339 |
2009 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.
|
20940358 |
2011 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
|
27831900 |
2016 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the reported desmoplakin mutations associated with Carvajal Syndrome, another ARVC disease, that it is also accompanied with a skin and hair disorder, also failed to reveal mutations in desmoplakin gene.
|
17045679 |
2007 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
CTD_human |
Arrhythmogenic dilated cardiomyopathy due to a novel mutation in the desmoplakin gene.
|
21193976 |
2011 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.
|
25820315 |
2015 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.
|
24070718 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
|
28527814 |
2017 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
|
28527814 |
2017 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
|
25227139 |
2015 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
|
16917092 |
2006 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.
|
21859740 |
2011 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
MGD |
Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.
|
25659760 |
2015 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.
|
25516398 |
2015 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians.
|
23500315 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
|
25616645 |
2015 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
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 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.
|
28442525 |
2017 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.
|
19095136 |
2008 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene for desmoplakin (DSP) may cause arrhythmogenic right ventricular cardiomyopathy (ARVC) and Carvajal syndrome (CS).
|
23137101 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Mutations of DP may cause striate palmoplantar keratoderma, arrhythmogenic right ventricular dysplasia, skin fragility/woolly hair syndrome, Naxos-like disease, and Carvajal syndrome.
|
16175511 |
2005 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.
|
16061754 |
2005 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
|
20716751 |
2010 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
|
20716751 |
2010 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |