Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR MUTATION
TTR MUTATION - Associated Disease
- polyneuropathy
- Source Database
- DisGeNET
- Description
- We prospectively included 20 patients (12 male and eight female patients, mean age 47.9 years, range 26-66) with confirmed mutation in the transthyretin gene: 13 with symptomatic polyneuropathy and seven asymptomatic gene carriers.
- Pubmed
- 25526974
- 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
- 4
- Original source reporting the Gene Disease association
- BeFree,LHGDN
- DisGENET score for the Gene Disease association
- 0.0573139610956006
Drugs