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
- Corneal Dystrophy, Lattice Type IIIA
- Source Database
- DisGeNET
- Description
- Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan.
- Pubmed
- 11024425
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.360542883744161
- Year of publication
- 2000
Drugs