×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
GeneticVariation
disease
CLINVAR
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
20716751
2010
×
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
GeneticVariation
disease
CLINVAR
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
25227139
2015
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
GeneticVariation
disease
BEFREE
The desmoplakin mutation in Carvajal syndrome produces a cardiomyopathy with unique pathologic features.
14761782
2004
×
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
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
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
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
×
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
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
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
GeneticVariation
disease
CLINVAR
Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.
21859740
2011
×
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
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
×
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
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
Biomarker
disease
GENOMICS_ENGLAND
A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.
20940358
2011
×
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
Biomarker
disease
CTD_human
Arrhythmogenic dilated cardiomyopathy due to a novel mutation in the desmoplakin gene.
21193976
2011
×
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
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
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
CausalMutation
disease
CLINVAR
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
20716751
2010
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
CausalMutation
disease
CLINVAR
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
16917092
2006
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
CausalMutation
disease
CLINVAR
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
11063735
2000
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
0.960
CausalMutation
disease
CLINVAR
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
20864495
2010