DSP, desmoplakin, 1832

N. diseases: 28; N. variants: 131
Disease: Cardiomyopathies ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 CausalMutation group CLINVAR Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. 27435932 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation group CLINVAR Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. 19924139 2010