Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR MUTATION
TTR MUTATION - Associated Disease
- Unspecified visual loss
- Source Database
- DisGeNET
- Description
- A 37-year-old Portuguese Caucasian man with Val30Met transthyretin-related familial amyloid polyneuropathy presented with rapidly progressing visual loss in his left eye.
- Pubmed
- 25282612
- Section of the abstract supporting the evidence
- CASE PRESENTATION
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs