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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: GARD:6390;   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 chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
JBrowse link
G Cd99 CD99 molecule (Xg blood group) ISO ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present ClinVar PMID:25741868 NCBI chr20:56,192,426...56,196,961
Ensembl chr20:56,192,390...56,197,025
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Ewing tumor ClinVar PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:28166811 PMID:28492532 PMID:30093976 NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17508423 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
JBrowse link
G Egr2 early growth response 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214589 NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
JBrowse link
G Ewsr1 EWS RNA-binding protein 1 ISO ClinVar Annotator: match by term: Ewing's sarcoma
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:16646077 PMID:25741868 PMID:26214589 PMID:27006472 PMID:28492532, PMID:1522903 RGD:1598915 NCBI chr14:85,322,105...85,350,826
Ensembl chr14:85,322,296...85,350,948
Ensembl chr 4:85,322,296...85,350,948
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 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
JBrowse link
G Kdm3a lysine demethylase 3A ISO mRNA:increased expression:bone marrow (human) RGD PMID:24362521 RGD:9590218 NCBI chr 4:99,503,160...99,547,315
Ensembl chr 4:99,503,176...99,546,905
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Ewing's sarcoma
ClinVar Annotator: match by term: Ewing sarcoma
ClinVar PMID:7607663 PMID:9385374 PMID:9463322 PMID:10494088 PMID:10607834 PMID:10712197 PMID:11137998 PMID:12112660 PMID:12807981 PMID:15060124 PMID:16479075 PMID:16870183 PMID:17311297 PMID:22925204 PMID:23668869 PMID:23913538 PMID:25741868 PMID:25810463 PMID:26467025 PMID:26962827 PMID:27322474 PMID:28492532 PMID:31730495 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Ewing tumor ClinVar PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:28166811 PMID:28492532 PMID:30093976 NCBI chr 7:70,352,679...70,355,555
Ensembl chr 7:70,352,251...70,355,619
JBrowse link
extraosseous Ewing sarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epcam epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Ewing sarcoma of soft tissue ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:11,282,194...11,308,870
Ensembl chr 6:11,281,964...11,298,216
JBrowse link
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 PMID:26467025 PMID:28492532 PMID:29263839 PMID:29642553 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of cellular proliferation 6944
      cancer 4896
        cell type cancer 3391
          sarcoma 243
            Ewing sarcoma 12
              Askin's tumor 0
              Ewing sarcoma of bone + 0
              extraosseous Ewing sarcoma + 2
Path 2
Term Annotations click to browse term
  disease 17129
    disease of cellular proliferation 6944
      Neoplasms by Site 6588
        organ system cancer 4728
          musculoskeletal system cancer 722
            connective tissue cancer 701
              Ewing sarcoma 12
                Askin's tumor 0
                Ewing sarcoma of bone + 0
                extraosseous Ewing sarcoma + 2
paths to the root