Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Pro501Thr (p.P501T)
(
ENST00000442011.7 )
TGFBI p.Pro501Ala (p.P501A) ( ENST00000442011.7 )
TGFBI p.Pro501Ser (p.P501S) ( ENST00000442011.7 )
TGFBI p.Pro501Thr (p.P501T) ( ENST00000442011.7 )
TGFBI p.Pro501Ala (p.P501A) ( ENST00000442011.7 )
TGFBI p.Pro501Ser (p.P501S) ( ENST00000442011.7 ) - Associated Disease
- Familial Amyloid Polyneuropathy, Type V
- Source Database
- DisGeNET
- Description
- Although the P501T of the BIGH3 gene found in this pedigree was precisely the one reported for lattice corneal dystrophy IIIA, no clinical feature was shown, even in the 85-year-old father.
- Pubmed
- 11004271
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0081432561624091
- Year of publication
- 2000
Drugs