Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR p.Gly73Glu (p.G73E)
(
ENST00000237014.8,
ENST00000610404.5,
ENST00000649620.1 )
TTR p.Gly73Glu (p.G73E) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Associated Disease
- neuropathy
- Source Database
- DisGeNET
- Description
- A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively with a rapidly progressive neuropathy: a case report.
- Pubmed
- 25471118
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00597172118576667
- Year of publication
- 2014
Drugs