Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg555Gln (p.R555Q)
(
ENST00000442011.7 )
TGFBI p.Arg555Gln (p.R555Q) ( ENST00000442011.7 ) - Associated Disease
- corneal dystrophy
- Source Database
- DisGeNET
- Description
- Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.
- Pubmed
- 17980739
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0229966142567051
- Year of publication
- 2007
Drugs