Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg555Trp (p.R555W)
(
ENST00000442011.7 )
TGFBI p.Arg555Trp (p.R555W) ( ENST00000442011.7 ) - Associated Disease
- Granular Dystrophy, Corneal
- Source Database
- DisGeNET
- Description
- An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene.
- Pubmed
- 12709742
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0075244275481278
- Year of publication
- 2003
Drugs