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
- Familial Amyloid Polyneuropathy, Type V
- Source Database
- DisGeNET
- Description
- Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy.
- Pubmed
- 20458218
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0081432561624091
- Year of publication
- 2010
Drugs