Annotation Detail
Information
- Associated Genes
- FOXL2
- Associated Variants
-
FOXL2 p.Ile84Ser (p.I84S)
(
ENST00000648323.1 )
FOXL2 p.Ile84Ser (p.I84S) ( ENST00000648323.1 ) - Associated Disease
- BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
- Source Database
- DisGeNET
- Description
- The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is presented.
- Pubmed
- 12630957
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.448067311292288
- Year of publication
- 2003
Drugs