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
- corneal dystrophy
- Source Database
- DisGeNET
- Description
- To present the light and electron microscopic findings of a unique corneal dystrophy never before described in a German family carrying the Gly623Asp Mutation of the TGFBI gene with late clinical onset.
- Pubmed
- 19019446
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0229966142567051
- Year of publication
- 2009
Drugs