Annotation Detail
Information
- Associated Genes
- ACVRL1
- Associated Variants
-
ACVRL1 MUTATION
ACVRL1 MUTATION - Associated Disease
- Lymphoma, Primary Cutaneous Anaplastic Large Cell
- Source Database
- DisGeNET
- Description
- The expression of CD30 and ALK1 with ALK gene rearrangement raised the possibility of three diagnoses: a primary cutaneous anaplastic large cell lymphoma (ALCL), a cutaneous inflammatory myofibroblastic tumor (IMT), an AFH of the skin associated with ALK gene rearrangement and CD30 positivity.
- Pubmed
- 24666231
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs