DST, dystonin, 667

N. diseases: 147; N. variants: 19
Disease: Epidermolysis Bullosa Simplex Kobner ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		0.010 GeneticVariation disease BEFREE With regard to skin blistering, the clinicopathological findings expand the molecular basis of EB by identifying BPAG1-e pathology in a new form of autosomal recessive EB simplex. 20164846 2010