Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR p.Glu62Gly (p.E62G)
(
ENST00000237014.8,
ENST00000610404.5,
ENST00000649620.1 )
TTR p.Glu62Gly (p.E62G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Associated Disease
- AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
- Source Database
- DisGeNET
- Description
- Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg).
- Pubmed
- 2363717
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.487600372418248
- Year of publication
- 1990
Drugs