MMP14, matrix metallopeptidase 14, 4323

N. diseases: 340; N. variants: 7
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) 		0.710 AlteredExpression disease BEFREE Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype. 29741626 2018
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder) 		0.710 Biomarker disease GENOMICS_ENGLAND Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. 22922033 2012
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder) 		0.710 GeneticVariation disease UNIPROT Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. 22922033 2012
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder) 		0.710 Biomarker disease CTD_human
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder) 		0.710 CausalMutation disease CLINVAR