Annotation Detail
Information
- Associated Genes
- YWHAE
- Associated Variants
-
YWHAE MUTATION
YWHAE MUTATION - Associated Disease
- Endometrial stromal sarcoma, high grade
- Source Database
- DisGeNET
- Description
- Specifically, the JAZF1-SUZ12 (formerly JAZF1-JJAZ1) fusion identifies a large proportion of ESN and LG-ESSs, whereas the YWHAE-FAM22 translocation identifies HG-ESSs.
- Pubmed
- 25299308
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
Drugs