Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Ala546Asp (p.A546D)
(
ENST00000442011.7 )
TGFBI p.Pro551Gln (p.P551Q) ( ENST00000442011.7 )
TGFBI p.Ala546Asp (p.A546D) ( ENST00000442011.7 )
TGFBI p.Pro551Gln (p.P551Q) ( ENST00000442011.7 ) - Associated Disease
- Lattice corneal dystrophy Type I
- Source Database
- DisGeNET
- Description
- Amyloid deposits were isolated from the corneas of two siblings with LCD type 1 resulting from A546D/P551Q mutations in the TGFBI gene using laser capture microdissection and subsequently analyzed by LC-MS/MS.
- Pubmed
- 24302499
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.492681823117654
- Year of publication
- 2013
Drugs