Annotation Detail
Information
- Associated Genes
- RIGI
- Associated Variants
-
RIGI MUTATION
RIGI MUTATION - Associated Disease
- hydrophthalmos
- Source Database
- DisGeNET
- Description
- Further analysis of DDX58 in 100 individuals with congenital glaucoma identified another variant (c.803G>T [p.Cys268Phe]) in a family who harbored neither dental anomalies nor aortic calcification but who suffered from glaucoma and skeletal abnormalities.
- Pubmed
- 25620203
- 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
- 6
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs