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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Ewing sarcoma
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Accession:DOID:3369 term browser browse the term
Definition:A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. (DO)
Synonyms:exact_synonym: ES;   Ewing Tumor;   Ewing's Sarcoma;   Ewing's Tumor;   Ewing's family localized tumor;   Ewing's sarcoma/peripheral primitive neuroectodermal tumor;   Ewings Sarcoma;   Ewings Tumor;   Ewings sarcoma-primitive neuroectodermal tumor;   PNET of thoracopulmonary region;   peripheral primitive neuroectodermal tumor
 narrow_synonym: ASKIN TUMOR;   NEUROEPITHELIOMA, PERIPHERAL;   PNE;   localized Ewing sarcoma;   localized Ewing's sarcoma;   localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor;   localized Ewing's tumor;   localized peripheral primitive neuroectodermal tumor
 related_synonym: CD99 POSITIVE NEOPLASTIC CELLS PRESENT
 primary_id: MESH:D012512
 alt_id: OMIM:612219
 xref: EFO:0000173;   EFO:0000174;   GARD:6390;   ICDO:9364/3;   NCI:C27901;   NCI:C27903;   NCI:C4817;   NCI:C7542;   NCI:C7806;   NCI:C9341
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Ewing sarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Ewing sarcoma ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Cd99 CD99 molecule (Xg blood group) ISO ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present ClinVar PMID:25741868 NCBI chr20:54,418,239...54,422,882 JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Ewing sarcoma ClinVar PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 More... NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17508423 NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762 		JBrowse link
G Egr2 early growth response 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214589 NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562 		JBrowse link
G Ewsr1 EWS RNA-binding protein 1 ISO ClinVar Annotator: match by term: Ewing sarcoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:16646077 PMID:25741868 PMID:26214589 PMID:27006472 PMID:28492532 More... RGD:1598915 NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544 		JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11772151 PMID:16646077 PMID:26214589 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433 		JBrowse link
G Kdm3a lysine demethylase 3A ISO mRNA:increased expression:bone marrow (human) RGD PMID:24362521 RGD:9590218 NCBI chr 4:103,630,907...103,675,073
Ensembl chr 4:103,630,908...103,675,073 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Ewing sarcoma | ClinVar Annotator: match by term: Ewing tumor ClinVar PMID:7607663 PMID:9385374 PMID:9463322 PMID:10494088 PMID:10607834 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Ewing sarcoma ClinVar PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 More... NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388 		JBrowse link
extraosseous Ewing sarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Ewing sarcoma of soft tissue ClinVar PMID:24336963 PMID:24429398 PMID:24755471 PMID:25256751 PMID:25741868 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7692
      cancer 5509
        cell type cancer 3760
          sarcoma 286
            Ewing sarcoma 11
              Askin's tumor 0
              Ewing sarcoma of bone + 0
              extraosseous Ewing sarcoma + 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7692
      Neoplasms by Site 7144
        organ system cancer 5263
          musculoskeletal system cancer 832
            connective tissue cancer 810
              Ewing sarcoma 11
                Askin's tumor 0
                Ewing sarcoma of bone + 0
                extraosseous Ewing sarcoma + 1
paths to the root