MMP14, matrix metallopeptidase 14, 4323

N. diseases: 340; N. variants: 7
Disease: Winchester syndrome (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777039
rs587777039
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
CUI: C0432289
Disease:
Winchester syndrome (disorder) 		0.800 GeneticVariation UNIPROT Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. 22922033 2012
dbSNP: rs587777039
rs587777039
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
CUI: C0432289
Disease:
Winchester syndrome (disorder) 		G 0.800 CausalMutation CLINVAR