Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg555Trp (p.R555W)
(
ENST00000442011.7 )
TGFBI p.Arg555Trp (p.R555W) ( ENST00000442011.7 ) - Associated Disease
- corneal dystrophy
- Source Database
- DisGeNET
- Description
- We investigated the role of TGFBI/BIGH3 in Groenouw corneal dystrophies by generating transgenic mice overexpressing TGFBI/BIGH3 containing the R555W mutation.
- Pubmed
- 18568131
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0229966142567051
- Year of publication
- 2008
Drugs