Annotation Detail
Information
- Associated Genes
- MMP1
- Associated Variants
-
MMP1 MUTATION
MMP1 MUTATION - Associated Disease
- Trichothiodystrophy Syndromes
- Source Database
- DisGeNET
- Description
- TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.
- Pubmed
- 25605938
- 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
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs