Annotation Detail
Information
- Associated Genes
- MMP2
- Associated Variants
-
MMP2 MUTATION
MMP2 MUTATION - Associated Disease
- TORG-WINCHESTER SYNDROME
- Source Database
- DisGeNET
- Description
- Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.
- Pubmed
- 25273674
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.562171534976642
Drugs