Annotation Detail

Information
Associated Genes
TTR
Associated Variants
TTR MUTATION
TTR MUTATION
Associated Disease
Senile cardiac amyloidosis
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,GAD
DisGENET score for the Gene Disease association
0.0243538236171066
Drugs