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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 sarcoma-primitive neuroectodermal tumor;   peripheral primitive neuroectodermal tumor
 narrow_synonym: localized Ewing sarcoma;   localized Ewing's sarcoma;   localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor;   localized Ewing's tumor;   localized peripheral primitive neuroectodermal tumor
 broad_synonym: EWSR1-RELATED CONDITION
 related_synonym: CD99 POSITIVE NEOPLASTIC CELLS PRESENT;   NEUROEPITHELIOMA, PERIPHERAL;   PNE
 primary_id: MESH:D012512
 alt_id: MIM:612219
 xref: EFO:0000173;   EFO:0000174;   GARD:6390;   ICDO:9364/3;   MONDO:0012817;   NCI:C27901;   NCI:C27903;   NCI:C4817;   NCI:C7806;   NCI:C9341
For additional species annotation, visit the Alliance of Genome Resources.


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Ewing sarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Ewing sarcoma ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125 		JBrowse link
G CD99 CD99 molecule ISO ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present ClinVar PMID:25741868 NCBI chr  X:1,369,316...1,430,527 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 chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17508423 NCBI chr 9:55,303,189...55,322,429
Ensembl chr 9:55,303,129...55,318,945 		JBrowse link
G EGR2 early growth response 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214589 NCBI chr 4:14,705,384...14,810,130
Ensembl chr 4:14,706,600...14,709,497 		JBrowse link
G EWSR1 EWS RNA binding protein 1 ISO ClinVar Annotator: match by term: Ewing sarcoma OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr26:22,578,782...22,608,174
Ensembl chr26:22,578,848...22,608,174 		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 5:5,841,533...5,968,329
Ensembl chr 5:5,843,023...5,966,822 		JBrowse link
G KDM3A lysine demethylase 3A ISO mRNA:increased expression:bone marrow (human) RGD PMID:24362521 RGD:9590218 NCBI chr17:38,690,962...38,744,507
Ensembl chr17:38,690,979...38,743,739 		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:10607834 PMID:10712197 More... NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382 		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 chr10:1,810,047...1,812,702
Ensembl chr10:1,810,159...1,812,692 		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 chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15755
    disease of cellular proliferation 7490
      cancer 5508
        cell type cancer 3671
          sarcoma 269
            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 15755
    disease of cellular proliferation 7490
      Neoplasms by Site 6945
        organ system cancer 5269
          musculoskeletal system cancer 752
            connective tissue cancer 730
              Ewing sarcoma 11
                Askin's tumor 0
                Ewing sarcoma of bone + 0
                extraosseous Ewing sarcoma + 1
paths to the root