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
Accession: DOID:3369
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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; 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; NCI:C27901 ; NCI:C27903 ; NCI:C4817 ; NCI:C7542 ; NCI:C7806 ; NCI:C9341
For additional species annotation, visit the
Alliance of Genome Resources .
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Bap1
BRCA1 associated deubiquitinase 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
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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
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Cdk4
cyclin-dependent kinase 4
ISO
ClinVar Annotator: match by term: Ewing sarcoma
ClinVar
PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:26580448 PMID:28166811 PMID:28492532 PMID:30093976 PMID:30851086 More...
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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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
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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
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Ewsr1
EWS RNA-binding protein 1
ISO
ClinVar Annotator: match by term: Ewing sarcoma CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:16646077 PMID:25741868 PMID:26214589 PMID:27006472 PMID:28492532 PMID:1522903 More...
RGD:1598915
NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544
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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
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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
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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 PMID:10712197 PMID:11137998 PMID:12112660 PMID:12807981 PMID:15060124 PMID:16479075 PMID:16870183 PMID:17311297 PMID:20301288 PMID:22925204 PMID:23668869 PMID:23913538 PMID:25741868 PMID:25810463 PMID:26467025 PMID:26962827 PMID:27322474 PMID:27838393 PMID:28492532 PMID:30290804 PMID:30530636 PMID:31347283 PMID:31730495 PMID:36988593 More...
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Tspan31
tetraspanin 31
ISO
ClinVar Annotator: match by term: Ewing sarcoma
ClinVar
PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:26580448 PMID:28166811 PMID:28492532 PMID:30093976 PMID:30851086 More...
NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388
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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:26580448 PMID:28492532 PMID:29263839 PMID:29642553 PMID:30583724 PMID:30680046 PMID:31428572 PMID:31658439 PMID:32099073 PMID:32179705 More...
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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