Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4323
Gene Symbol: MMP14
MMP14 		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
Entrez Id: 4323
Gene Symbol: MMP14
MMP14 		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
Entrez Id: 4323
Gene Symbol: MMP14
MMP14 		0.710 GeneticVariation disease UNIPROT Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. 22922033 2012
Entrez Id: 4323
Gene Symbol: MMP14
MMP14 		0.710 Biomarker disease CTD_human
Entrez Id: 4323
Gene Symbol: MMP14
MMP14 		0.710 CausalMutation disease CLINVAR
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		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
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		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
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		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