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
- Thiel-Behnke corneal dystrophy
- Source Database
- DisGeNET
- Description
- Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy.
- Pubmed
- 19433713
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.480814325616241
- Year of publication
- 2009
Drugs