DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Progressive cardiomyopathic lentiginosis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543816
Disease: Progressive cardiomyopathic lentiginosis syndrome
Progressive cardiomyopathic lentiginosis syndrome 		0.010 GeneticVariation disease BEFREE Inherited mutations in desmoplakin are associated with both heart and skin disease (cardiocutaneous syndrome). 29291530 2018