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
- Mutation analysis showed the classical Arg124Cys mutation in exon 4 of TGFBI/BIGH3, associated with LCDI.
- Pubmed
- 16710170
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.492681823117654
- Year of publication
- 2006
Drugs