Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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