Annotation Detail
Information
- Associated Genes
- CYP1B1
- Associated Variants
-
CYP1B1 MUTATION
CYP1B1 MUTATION - Associated Disease
- glaucoma
- Source Database
- DisGeNET
- Description
- CYP1B1 mutation related congenital glaucoma can present with an extreme form of anterior segment dysgenesis that includes recalcitrant glaucoma, corneal opacification and aniridia.
- Pubmed
- 24001018
- Section of the abstract supporting the evidence
- CONCLUSION
- Number of the section of the abstract supporting the evidence
- 4
- Number of the sentence supporting the evidence
- 9
- Original source reporting the Gene Disease association
- BeFree,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.094130125958035
Drugs