Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR MUTATION
TTR MUTATION - Associated Disease
- Senile cardiac amyloidosis
- Source Database
- DisGeNET
- Description
- A phase 2, open-label study in 21 patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis showed that tafamidis (20 mg daily for 12 months) stabilized these transthyretin variants.
- Pubmed
- 25743445
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,GAD
- DisGENET score for the Gene Disease association
- 0.0243538236171066
Drugs