Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR MUTATION
TTR MUTATION - Associated Disease
- Amyloidosis, Hereditary
- Source Database
- DisGeNET
- Description
- TTR protein destabilised by TTR gene mutation is prone to dissociate from its native tetramer to monomer, and to then misfold and aggregate into amyloid fibrils, resulting in autosomal dominant hereditary amyloidosis, including familial amyloid polyneuropathy, familial amyloid cardiomyopathy and familial leptomeningeal amyloidosis.
- Pubmed
- 25604431
- 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
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00678604680200758
Drugs