×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
Biomarker
disease
GENOMICS_ENGLAND
Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients.
30993396
2019
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
GeneticVariation
disease
CLINVAR
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
28527814
2017
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
Biomarker
disease
GENOMICS_ENGLAND
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
CausalMutation
disease
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
GeneticVariation
disease
CLINVAR
Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.
28442525
2017
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
CausalMutation
disease
CLINVAR
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
28527814
2017
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
GeneticVariation
disease
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
CausalMutation
disease
CLINVAR
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.
26735901
2016
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
CausalMutation
disease
CLINVAR
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
27831900
2016
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
GeneticVariation
disease
BEFREE
Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome .
25824144
2016
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
GeneticVariation
disease
CLINVAR
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
25227139
2015
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
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
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
CausalMutation
disease
CLINVAR
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
25616645
2015
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
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
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
CausalMutation
disease
CLINVAR
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
26187847
2015
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
Biomarker
disease
MGD
Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.
25659760
2015
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
GeneticVariation
disease
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780
2014
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
CausalMutation
disease
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780
2014
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
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
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
GeneticVariation
disease
CLINVAR
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
23671136
2013
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
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
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
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
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
CausalMutation
disease
CLINVAR
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
23671136
2013
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
Biomarker
disease
GENOMICS_ENGLAND
Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians.
23500315
2013
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
GeneticVariation
disease
BEFREE
This novel homozygous truncating mutation in the isoform-1 specific region of the DSP C-terminus caused Carvajal syndrome comprising severe early-onset heart failure with features of non-compaction cardiomyopathy, woolly hair and an acantholytic form of palmoplantar keratoderma in our patient.
21789513
2011