Annotation Detail
Information
- Associated Genes
- TACSTD2
- Associated Variants
-
TACSTD2 p.Gln118Ter (p.Q118*)
(
ENST00000371225.4 )
TACSTD2 p.Gln118Ter (p.Q118*) ( ENST00000371225.4 ) - Associated Disease
- Corneal dystrophy, Lattice type 3
- Source Database
- DisGeNET
- Description
- More than 90% of GDLD patients possessed the same haplotype with a Q118X mutation in TACSTD2.
- Pubmed
- 23038033
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.364885953697445
- Year of publication
- 2012
Drugs