EWSR1/WT1 Fusion Gene

Preferred Label : EWSR1/WT1 Fusion Gene;

NCIt synonyms : WT1-EWSR1 Fusion Gene; EWS/WT1 Fusion Gene; WT1/EWS Fusion Gene; EWS-WT1 Fusion Gene; EWSR1-WT1 Fusion Gene; EWSR1::WT1 Fusion Gene;

NCIt related terms : EWSR1-WT1;

NCIt definition : A fusion gene that results from a chromosomal translocation t(11;22)(p13;q12) which fuses the intron between exons 7 and 8 of the EWSR1 gene with the intron between exons 7 and 8 of the WT1 gene. This rearrangement is associated with desmoplastic small round cell sarcoma.;

Détails

Origin ID

C99213;

UMLS CUI

C3274610;

Automatic exact mappings (from CISMeF team)
- Ews rna-binding protein 1 [OMIM gene]
- Wt1 transcription factor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- EWS Authorized Value Terminology [NCIt concept]
- EWS Molecular Analysis Table [NCIt concept]
gene_encodes_gene_product
- EWSR1/WT1 Fusion Protein [NCIt concept]
gene_has_abnormality
- FET Family Gene Translocation [NCIt concept]
- t(11;22)(p13;q12) [NCIt concept]
gene_involved_in_molecular_abnormality
- EWSR1-WT1 Fusion Protein Expression [NCIt concept]
- t(11;22)(p13;q12) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Desmoplastic Small Round Cell Tumor [NCIt concept]
gene_mapped_to_disease
- Adult Desmoplastic Small Round Cell Tumor [NCIt concept]
- Childhood Desmoplastic Small Round Cell Tumor [NCIt concept]
- Desmoplastic Small Round Cell Tumor [NCIt concept]
- Locally Advanced Desmoplastic Small Round Cell Tumor [NCIt concept]
- Lung Desmoplastic Small Round Cell Tumor [NCIt concept]
- Metastatic Desmoplastic Small Round Cell Tumor [NCIt concept]
- Peritoneal Desmoplastic Small Round Cell Tumor [NCIt concept]
- Recurrent Desmoplastic Small Round Cell Tumor [NCIt concept]
- Refractory Desmoplastic Small Round Cell Tumor [NCIt concept]
- Unresectable Desmoplastic Small Round Cell Tumor [NCIt concept]
gene_plays_role_in_process
- Transcriptional Activation [NCIt concept]
genetic_biomarker_related_to
- EWSR1/WT1 Fusion Positive [NCIt concept]
related_to_genetic_biomarker
- EWSR1 Gene [NCIt concept]
- WT1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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