Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Gly623Asp (p.G623D)
(
ENST00000442011.7,
ENST00000508076.5 )
TGFBI p.Gly623Asp (p.G623D) ( ENST00000442011.7, ENST00000508076.5 ) - Associated Disease
- corneal dystrophy
- Source Database
- DisGeNET
- Description
- A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene.
- Pubmed
- 15885785
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0229966142567051
- Year of publication
- 2005
Drugs