Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg124Ser (p.R124S)
(
ENST00000442011.7 )
TGFBI p.Arg124Cys (p.R124C) ( ENST00000442011.7 )
TGFBI p.Arg124Ser (p.R124S) ( ENST00000442011.7 )
TGFBI p.Arg124Cys (p.R124C) ( ENST00000442011.7 ) - Associated Disease
- corneal dystrophy
- Source Database
- DisGeNET
- Description
- To report a de novo R124C mutation of transforming growth factor β-induced (TGFBI) gene in one of dizygotic twins with corneal dystrophy of the Bowman layer.
- Pubmed
- 25785536
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0229966142567051
- Year of publication
- 2015
Drugs