Annotation Detail
Information
- Associated Genes
- TACSTD2
- Associated Variants
-
TACSTD2 p.Gln118Ter (p.Q118*)
(
ENST00000371225.4 )
TGFBI p.Pro501Thr (p.P501T) ( ENST00000442011.7 )
TGFBI p.Pro501Ala (p.P501A) ( ENST00000442011.7 )
TGFBI p.Pro501Ser (p.P501S) ( ENST00000442011.7 )
TACSTD2 p.Gln118Ter (p.Q118*) ( ENST00000371225.4 )
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 3
- Source Database
- DisGeNET
- Description
- Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy.
- Pubmed
- 11004271
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.364885953697445
- Year of publication
- 2000
Drugs