DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.960 Biomarker disease GENOMICS_ENGLAND Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients. 30993396 2019
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.960 CausalMutation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.960 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.960 CausalMutation disease CLINVAR Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 26735901 2016
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.960 GeneticVariation disease BEFREE Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. 25824144 2016
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.960 GeneticVariation disease CLINVAR Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 25227139 2015
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.960 GeneticVariation disease CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.960 CausalMutation disease CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.960 GeneticVariation disease CLINVAR Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23671136 2013
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.960 CausalMutation disease CLINVAR Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23671136 2013
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		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