Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES MUTATION
DES MUTATION - Associated Disease
- desmoplastic small round cell tumor
- Source Database
- DisGeNET
- Description
- We present a 51 year old female patient with a pelvic desmoplastic small round cell tumor with an unusual immunohistochemical profile, including absence of significant cytokeratin expression, complete negativity for desmin and widespread loss of nuclear INI-1 expression (>90% of tumor cells).
- Pubmed
- 25755805
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs