Annotation Detail

Information
Associated Genes
TTR
Associated Variants
TTR MUTATION
TTR MUTATION
Associated Disease
amyloidosis
Source Database
DisGeNET
Description
A genealogical and clinical study of the phenotypical variation within the Swedish transthyretin His88Arg (p. His108Arg) amyloidosis family.
Pubmed
25721874
Section of the abstract supporting the evidence
TITLE
Number of the section of the abstract supporting the evidence
0
Number of the sentence supporting the evidence
0
Original source reporting the Gene Disease association
BeFree,CTD_human,GAD,LHGDN
DisGENET score for the Gene Disease association
0.206845043325561
Drugs