Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg124Ser (p.R124S)
(
ENST00000442011.7 )
TGFBI p.Arg124Cys (p.R124C) ( ENST00000442011.7 )
TGFBI p.Arg555Trp (p.R555W) ( ENST00000442011.7 )
TGFBI p.Arg124Ser (p.R124S) ( ENST00000442011.7 )
TGFBI p.Arg124Cys (p.R124C) ( ENST00000442011.7 )
TGFBI p.Arg555Trp (p.R555W) ( ENST00000442011.7 ) - Associated Disease
- Granular Dystrophy, Corneal
- Source Database
- DisGeNET
- Description
- This study expands on our previous research investigating dystrophic stromal aggregates, with the aim of better elucidating the pathomechanism of two conditions arising from the most common TGFBI mutations: granular corneal dystrophy type 1 (GCD1; R555W) and lattice corneal dystrophy type 1 (LCD1; R124C).
- Pubmed
- 26207300
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0075244275481278
- Year of publication
- 2015
Drugs