Annotation Detail
Information
- Associated Genes
- MMP9
- Associated Variants
-
MMP9 MUTATION
MMP9 MUTATION - Associated Disease
- Congenital Pain Insensitivity
- Source Database
- DisGeNET
- Description
- It is likely that the aberrantly accelerated MMP-9 proteolysis during neurogenesis is a biochemical rational for the functional inactivation in Nav1.7 and that the enhanced cleavage of the Nav1.7-R907Q mutant is a cause of CIP in the Bedouin family.
- Pubmed
- 26283785
- 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
- 10
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs