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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:osteosarcoma
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Accession:DOID:3347 term browser browse the term
Definition:A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). (DO)
Synonyms:exact_synonym: OSRC;   OSTEOBLASTIC OSTEOSARCOMA;   osteogenic sarcoma;   osteogenic sarcomas;   osteoid sarcoma;   osteosarcoma tumor;   osteosarcoma tumors;   osteosarcomas;   skeletal sarcoma
 narrow_synonym: osteosarcoma, somatic
 primary_id: MESH:D012516
 alt_id: MIM:259500
 xref: EFO:0000637;   GARD:7284;   ICDO:9180/3;   NCI:C120045;   NCI:C24021;   NCI:C60487;   NCI:C9145;   ORDO:668
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP12 A-kinase anchoring protein 12 ISO mRNA,protein:decreased expression:osteoblast: RGD PMID:19825367 RGD:5147850 NCBI chr 1:14,904,109...15,017,016
Ensembl chr 1:14,904,116...15,016,997 		JBrowse link
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Osteosarcoma, somatic ClinVar PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 More... NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		JBrowse link
G BCOR BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chr  X:35,768,013...35,891,013
Ensembl chr  X:35,768,017...35,814,833 		JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:21311599 NCBI chr10:52,586,089...52,596,154
Ensembl chr10:52,586,509...52,596,564 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO DNA:nonsense mutation RGD PMID:16964288 RGD:1599505 NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793 		JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 NCBI chr 2:62,250,958...62,345,851
Ensembl chr 2:62,250,989...62,345,362 		JBrowse link
G CBL Cbl proto-oncogene ISO protein:decreased expression:bone RGD PMID:22623369 RGD:126925238 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G CCNB3 cyclin B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chr  X:43,922,729...43,988,939
Ensembl chr  X:43,922,804...43,990,929 		JBrowse link
G CDC5L cell division cycle 5 like ISO DNA:amplification:cds (human) RGD PMID:18567798 RGD:10047050 NCBI chr 7:39,384,397...39,427,729
Ensembl chr 7:39,384,556...39,431,248 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Osteoblastic osteosarcoma ClinVar PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 More... NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Osteosarcoma, somatic OMIM
ClinVar		 PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 More... NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO DNA:deletion (rat) RGD PMID:19825367 RGD:5147850 NCBI chr 1:25,155,652...25,158,517
Ensembl chr 1:25,155,664...25,160,279 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 ameliorates ISO human cells in mouse model RGD PMID:31571016 RGD:152025557 NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232 		JBrowse link
G DDR1 discoidin domain receptor tyrosine kinase 1 severity ISO human cells in mouse model
protein:increased expression:bone (human)		 RGD PMID:29039472 RGD:151347601 NCBI chr 7:23,371,358...23,391,585
Ensembl chr 7:23,373,777...23,391,585 		JBrowse link
G DHFR dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chr 2:89,230,660...89,255,830 JBrowse link
G E2F1 E2F transcription factor 1 severity ISO protein:increased expression:bone (human)
human cells in mouse model		 RGD PMID:29039472 RGD:151347601 NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,599...37,189,883 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 exacerbates ISO human EFEMP2 knockdown cell line in a mouse model RGD PMID:28339091 RGD:42722011 NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486 		JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589 		JBrowse link
G EGR1 early growth response 1 ISO mRNA:decreased expression:tumor (human) RGD PMID:21283769 RGD:5131662 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296 		JBrowse link
G EIF2S1 eukaryotic translation initiation factor 2 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 7:91,085,025...91,109,835
Ensembl chr 7:91,085,335...91,109,827 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit severity ISO DNA:silent mutation:cds:p.N118N (human) RGD PMID:23098477 RGD:13207418 NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		JBrowse link
G ESRRA estrogen related receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24967384 PMID:34524571 NCBI chr 2:7,803,504...7,812,868
Ensembl chr 2:7,803,510...7,813,098 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14767549 PMID:26265454 RGD:11532507 NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941 		JBrowse link
G FOLR1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17473184 NCBI chr 9:6,753,513...6,760,433
Ensembl chr 9:6,757,040...6,760,402 		JBrowse link
G GRM4 glutamate metabotropic receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23727862 NCBI chr 7:30,179,723...30,278,579
Ensembl chr 7:30,179,002...30,279,119 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 ISO RGD PMID:20577141 RGD:5135042 NCBI chr 4:110,330,027...110,332,957
Ensembl chr 4:110,330,028...110,332,962 		JBrowse link
G HDAC6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34524571 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 treatment ISO RGD PMID:19449377 RGD:13792789 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,548...46,220,883 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645001 NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248279 NCBI chr 9:131,960,566...132,336,029
Ensembl chr 9:131,960,480...132,334,953 		JBrowse link
G LOC100739508 glutathione S-transferase P-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152492 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23886186 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594 		JBrowse link
G LZIC leucine zipper and CTNNBIP1 domain containing ISO RGD PMID:19444910 RGD:2314410 NCBI chr 6:70,261,447...70,271,710
Ensembl chr 6:70,259,151...70,271,955 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25605016 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MSH2 mutS homolog 2 disease_progression ISO RGD PMID:25503122 RGD:126848779 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
G MSH6 mutS homolog 6 disease_progression ISO RGD PMID:25503122 RGD:126848779 NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		JBrowse link
G MST1R macrophage stimulating 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr13:32,401,623...32,423,614
Ensembl chr13:32,409,555...32,421,920 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19159907 RGD:6893634 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 PMID:34508303 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17279585 NCBI chr13:140,373,571...140,406,129
Ensembl chr13:140,364,075...140,406,112 		JBrowse link
G PHLDA2 pleckstrin homology like domain family A member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22021909 NCBI chr 2:2,057,679...2,058,675
Ensembl chr 2:2,057,681...2,058,694 		JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:muscle tissue (human) RGD PMID:22390931 RGD:11535057 NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231 		JBrowse link
G PRDX2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23911960 NCBI chr 2:66,207,829...66,211,474
Ensembl chr 2:66,207,828...66,212,009 		JBrowse link
G PTBP1 polypyrimidine tract binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chr 2:77,551,562...77,563,153
Ensembl chr 2:77,551,562...77,563,134 		JBrowse link
G PTH parathyroid hormone ISO human protein in rat model RGD PMID:22688001 RGD:7242897 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415 		JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B disease_progression ISO mRNA:decreased expression:bone (human) RGD PMID:31829261 RGD:151361289 NCBI chr 5:34,656,460...34,794,838
Ensembl chr 5:34,659,964...34,794,289 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO OMIM NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		JBrowse link
G RFC1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chr 8:30,552,369...30,635,932
Ensembl chr 8:30,552,400...30,635,867 		JBrowse link
G RGS1 regulator of G protein signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr10:1,147,439...1,151,733
Ensembl chr10:1,147,458...1,151,738 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 PMID:25307878 NCBI chr 7:40,106,581...40,353,304
Ensembl chr 7:40,106,532...40,460,687 		JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO human gene in rat model
human protein in a mouse model		 RGD PMID:17458711 PMID:17479108 RGD:8633656 RGD:8655561 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470 		JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793039 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435 		JBrowse link
G TAF15 TATA-box binding protein associated factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr12:39,687,171...39,716,761
Ensembl chr12:39,686,884...39,724,769 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr10:33,865,967...33,878,135
Ensembl chr10:33,865,959...33,879,070 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Osteosarcoma, somatic OMIM
ClinVar		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20158913 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28107196 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997 		JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chr14:81,409,067...81,647,808
Ensembl chr14:81,455,127...81,647,939 		JBrowse link
G ZW10 zw10 kinetochore protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 9:41,358,801...41,400,254
Ensembl chr 9:41,348,896...41,400,208 		JBrowse link
bone osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 More... NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 More... NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 disease_progression
exacerbates		 ISO protein:increased expression:bone tissue (human)
mRNA, protein:increased expression:bone tissue (human )		 RGD PMID:27157136 PMID:28339091 RGD:42722011 RGD:42722013 NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:8651278 More... NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:25741868 PMID:26822237 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371 		JBrowse link
localized osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNG1 cyclin G1 treatment ISO human cells in mouse model RGD PMID:9322869 RGD:151356969 NCBI chr16:60,349,255...60,356,737
Ensembl chr16:60,349,258...60,356,738 		JBrowse link
peripheral osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: High grade surface osteosarcoma ClinVar PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 More... NCBI chr 4:287,206...293,629
Ensembl chr 4:287,214...293,913 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15425
    disease of cellular proliferation 7371
      cancer 5416
        cell type cancer 3615
          sarcoma 261
            bone sarcoma 75
              osteosarcoma 64
                Oslam syndrome 0
                Premature Aging, Okamoto Type 0
                Retinoblastoma-Related Osteosarcoma 0
                bone leiomyosarcoma 0
                bone osteosarcoma + 7
                breast osteosarcoma 0
                central nervous system osteosarcoma 0
                childhood osteosarcoma 0
                chondroblastic osteosarcoma 0
                extraosseous osteosarcoma + 0
                kidney osteogenic sarcoma 0
                liposarcoma of bone 0
                localized osteosarcoma 1
                malignant fibrous histiocytoma of bone 0
                metachronous osteosarcoma of the bone 0
Path 2
Term Annotations click to browse term
  disease 15425
    disease of anatomical entity 15095
      musculoskeletal system disease 7843
        connective tissue disease 5375
          bone disease 3870
            Bone Neoplasms 682
              bone cancer 664
                bone sarcoma 75
                  osteosarcoma 64
                    Oslam syndrome 0
                    Premature Aging, Okamoto Type 0
                    Retinoblastoma-Related Osteosarcoma 0
                    bone leiomyosarcoma 0
                    bone osteosarcoma + 7
                    breast osteosarcoma 0
                    central nervous system osteosarcoma 0
                    childhood osteosarcoma 0
                    chondroblastic osteosarcoma 0
                    extraosseous osteosarcoma + 0
                    kidney osteogenic sarcoma 0
                    liposarcoma of bone 0
                    localized osteosarcoma 1
                    malignant fibrous histiocytoma of bone 0
                    metachronous osteosarcoma of the bone 0
paths to the root