Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Gly623Asp (p.G623D)
(
ENST00000442011.7,
ENST00000508076.5 )
TGFBI p.Gly623Asp (p.G623D) ( ENST00000442011.7, ENST00000508076.5 ) - Associated Disease
- Reis-Bucklers' corneal dystrophy
- Source Database
- DisGeNET
- Description
- An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.
- Pubmed
- 18636123
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.482985860592883
- Year of publication
- 2008
Drugs