Annotation Detail
Information
- Associated Genes
- TCF7L2
- Associated Variants
-
TCF7L2 MUTATION
TCF7L2 MUTATION - Associated Disease
- Fuchs Endothelial Dystrophy
- Source Database
- DisGeNET
- Description
- Among the several genes and loci associated with FECD, the strongest association is with an intronic (CTG·CAG)n trinucleotide repeat expansion in the TCF4 gene, which is found in the majority of affected patients.
- Pubmed
- 25593321
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00515739556952576
Drugs