Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR MUTATION
TTR MUTATION - Associated Disease
- AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
- Source Database
- DisGeNET
- Description
- Our findings indicate that CNS clinical involvement occurs in ATTR-V30M patients regardless of LT. Longer disease duration after LT can provide the necessary time for transthyretin amyloidosis to progress until it becomes clinically relevant.
- Pubmed
- 25091367
- Section of the abstract supporting the evidence
- CONCLUSIONS
- Number of the section of the abstract supporting the evidence
- 4
- Number of the sentence supporting the evidence
- 12
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.487600372418248
Drugs