MMP1, matrix metallopeptidase 1, 4312

N. diseases: 589; N. variants: 19
Disease: Epidermolysis Bullosa Pruriginosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Pruriginosa 		0.010 GeneticVariation disease BEFREE New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter. 19197535 2009