Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR MUTATION
TTR MUTATION - Associated Disease
- amyloidosis
- Source Database
- DisGeNET
- Description
- The demonstration, by immunohistochemistry and laser micro dissection-mass spectrometry (LMD/MS) that the amyloid fibrils were composed of TTR, in conjunction with a typical FAP phenotype, indicates that the novel TTR mutation was the cause of amyloidosis.
- Pubmed
- 25430583
- 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
- 6
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.206845043325561
Drugs