Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg124Ser (p.R124S)
(
ENST00000442011.7 )
TGFBI p.Arg124Cys (p.R124C) ( ENST00000442011.7 )
TGFBI p.Arg124Ser (p.R124S) ( ENST00000442011.7 )
TGFBI p.Arg124Cys (p.R124C) ( ENST00000442011.7 ) - Associated Disease
- Lattice corneal dystrophy Type I
- Source Database
- DisGeNET
- Description
- The R124C mutation of the TGFBI gene gives rise to lattice corneal dystrophy type I, which is characterized by irregularity, turbulence, and opacity of the corneal epithelium.
- Pubmed
- 22080335
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.492681823117654
- Year of publication
- 2012
Drugs