Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR p.Val40Ile (p.V40I)
(
ENST00000237014.8,
ENST00000610404.5,
ENST00000649620.1 )
TTR p.Val40Ile (p.V40I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Associated Disease
- Cardiomyopathies
- Source Database
- DisGeNET
- Description
- The Wagshurst study: p.Val40Ile transthyretin gene variant causes late-onset cardiomyopathy.
- Pubmed
- 25291558
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.011672000499453
- Year of publication
- 2015
Drugs