MMP2, matrix metallopeptidase 2, 4313

N. diseases: 1021; N. variants: 43
Disease: Winchester syndrome (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder) 		0.030 GeneticVariation disease BEFREE Recently, mutations in the matrix metalloproteinase 2 gene (MMP2) have been reported in patients with NAO and Winchester syndrome. 17059372 2007
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder) 		0.030 Biomarker disease BEFREE Our study results are consistent with the involvement of MMP2 in Winchester syndrome and with the hypothesis that Winchester and NAO syndromes are allelic disorders that form a continuous clinical spectrum. 16542393 2006
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder) 		0.030 GeneticVariation disease BEFREE We report a homozygous missense mutation (E404K) in the active site of MMP2 in a 21-year-old woman with a severe form of osteolysis best compatible with a diagnosis of Winchester syndrome. 15691365 2005