Annotation Detail
Information
- Associated Genes
- MMP2
- Associated Variants
-
MMP2 MUTATION
MMP2 MUTATION - Associated Disease
- Skin Abnormalities
- Source Database
- DisGeNET
- Description
- Furthermore, the loss of MMP2 activity suggests that fibrotic skin abnormalities in GAPO syndrome are, in part, the consequence of pathophysiological mechanisms underlying syndromes (NAO, Torg and Winchester) with multicentric skin nodulosis and osteolysis caused by homozygous loss-of-function mutations in MMP2.
- Pubmed
- 25572963
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 8
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs