PKP1, plakophilin 1, 5317

N. diseases: 54; N. variants: 5
Disease: Palmoplantar Keratosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		0.010 AlteredExpression disease BEFREE Loss of PKP1 expression in human skin leads to skin erosions and crusting, notably with perioral fissuring as well as palmoplantar hyperkeratosis with painful cracking of the skin. 19945625 2010