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
- Familial Amyloid Polyneuropathy, Type V
- Source Database
- DisGeNET
- Description
- Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.
- Pubmed
- 15531312
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0081432561624091
- Year of publication
- 2004
Drugs