DSP, desmoplakin, 1832

N. diseases: 22; N. variants: 140
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4707237
Disease: Striate palmoplantar keratoderma
Striate palmoplantar keratoderma
0.350 GermlineCausalMutation disease ORPHANET Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. 9887343 1999