Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg555Gln (p.R555Q)
(
ENST00000442011.7 )
TGFBI p.Arg555Gln (p.R555Q) ( ENST00000442011.7 ) - Associated Disease
- Reis-Bucklers' corneal dystrophy
- Source Database
- DisGeNET
- Description
- Arg555Gln mutation of TGFBI gene in geographical-type Reis-Bücklers corneal dystrophy in a Chinese family.
- Pubmed
- 22906289
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.482985860592883
- Year of publication
- 2012
Drugs