Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex
0.010 AlteredExpression disease BEFREE An important characteristic of epidermolysis bullosa simplex Dowling-Meara (EBS-DM) keratinocytes is the increased level of Jun N-terminal kinase (JNK) stress signalling, which is thought to contribute to the disease phenotype. 23528216 2013