Annotation Detail
Information
- Associated Genes
- RIGI
- Associated Variants
-
RIGI MUTATION
RIGI MUTATION - Associated Disease
- glaucoma
- Source Database
- DisGeNET
- Description
- Taken together, our results demonstrate that DDX58 mutations cause atypical SMS manifesting with variable expression of glaucoma, aortic calcification, and skeletal abnormalities without dental anomalies.
- Pubmed
- 25620203
- 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