DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Dermatitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011603
Disease: Dermatitis
Dermatitis 		0.020 Biomarker disease BEFREE This is the first report demonstrating statistically significant specificity of Dp staining patterns in EM/SJS/TEN as compared with other interface dermatitides. 31599750 2020
CUI: C0011603
Disease: Dermatitis
Dermatitis 		0.020 GeneticVariation disease BEFREE Recently, homozygous mutations in the desmoglein-1 (DSG1) gene and heterozygous mutation in the desmoplakin (DSP) gene have been demonstrated to be associated with severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome (Mendelian Inheritance in Man no.615508). 27154412 2016