MMP1, matrix metallopeptidase 1, 4312

N. diseases: 589; N. variants: 19
Disease: Epidermolysis Bullosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.010 GeneticVariation disease BEFREE The frequency of the 2G allele in these subjects (46.3%) was greater than in the controls (42.0%), but less than in non-itchy dominant dystrophic EB (52.2%) or recessive dystrophic EB (62.0%), indicating that variants of a common functional polymorphism in the matrix metalloproteinase-1 gene promoter do not account for the itchy skin phenotype. 19197535 2009