DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Ectodermal dysplasia/ skin fragility syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858302
Disease: Ectodermal dysplasia/ skin fragility syndrome
Ectodermal dysplasia/ skin fragility syndrome 		0.310 GeneticVariation disease BEFREE Loss-of-function mutations in the DSP gene can result in a phenotype similar to ectodermal dysplasia-skin fragility syndrome resulting from PKP1 mutations but only DSP pathology is associated with cardiac disease. 19016709 2009
CUI: C1858302
Disease: Ectodermal dysplasia/ skin fragility syndrome
Ectodermal dysplasia/ skin fragility syndrome 		0.310 Biomarker disease GENOMICS_ENGLAND