Annotation Detail
Information
- Associated Genes
- MMP9
- Associated Variants
-
MMP9 MUTATION
MMP9 MUTATION - Associated Disease
- Metaphyseal anadysplasia
- Source Database
- DisGeNET
- Description
- Autosomal dominant (AD) MANDP has been described as more severe, and has been associated with dominant-negative MMP13 mutations that suppress activity of both MMP9 and MMP13; autosomal recessive (AR) MANDP has been described as a milder form associated with AR missense mutations in MMP9 or MMP13.
- Pubmed
- 24781753
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree,ORPHANET
- DisGENET score for the Gene Disease association
- 0.120542883744161
Drugs