Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg124Ser (p.R124S)
(
ENST00000442011.7 )
TGFBI p.Arg124Cys (p.R124C) ( ENST00000442011.7 )
TGFBI p.Ala546Asp (p.A546D) ( ENST00000442011.7 )
TGFBI p.Pro551Gln (p.P551Q) ( ENST00000442011.7 )
TGFBI p.Arg124Ser (p.R124S) ( ENST00000442011.7 )
TGFBI p.Arg124Cys (p.R124C) ( 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
- Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied family that lacked the R124C mutation that frequently accompanies this form of corneal amyloidosis.
- Pubmed
- 15111592
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.492681823117654
- Year of publication
- 2004
Drugs