Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg124His (p.R124H)
(
ENST00000442011.7 )
TGFBI p.Arg124Leu (p.R124L) ( ENST00000442011.7 )
TGFBI p.Arg124His (p.R124H) ( ENST00000442011.7 )
TGFBI p.Arg124Leu (p.R124L) ( ENST00000442011.7 ) - Associated Disease
- corneal dystrophy
- Source Database
- DisGeNET
- Description
- Avellino corneal dystrophy (ACD) is a common corneal dystrophy that shows allelic homogeneity, R124H mutation in the transforming growth factor beta-induced (TGFBI) gene.
- Pubmed
- 17096061
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0229966142567051
- Year of publication
- 2007
Drugs