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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. (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: OMIM:259500
 xref: GARD:7284;   NCI:C120045;   NCI:C24021;   NCI:C60487;   NCI:C9145;   ORDO:668
For additional species annotation, visit the Alliance of Genome Resources.



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osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap12 A kinase (PRKA) anchor protein (gravin) 12 ISO mRNA,protein:decreased expression:osteoblast: RGD PMID:19825367 RGD:5147850 NCBI chr10:4,266,329...4,359,471
Ensembl chr10:4,266,380...4,359,470
JBrowse link
G Akt1 thymoma viral proto-oncogene 1 ISO ClinVar Annotator: match by term: Osteogenic sarcoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
JBrowse link
G Bcor BCL6 interacting corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chr  X:12,036,737...12,160,516
Ensembl chr  X:12,036,740...12,160,355
JBrowse link
G Bmi1 Bmi1 polycomb ring finger oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:21311599 NCBI chr 2:18,677,018...18,686,629
Ensembl chr 2:18,677,018...18,686,629
JBrowse link
G Brca2 breast cancer 2, early onset ISO DNA:nonsense mutation RGD PMID:16964288 RGD:1599505 NCBI chr 5:150,522,297...150,570,147
Ensembl chr 5:150,522,630...150,570,329
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 NCBI chr17:32,196,272...32,284,743
Ensembl chr17:32,196,274...32,284,722
JBrowse link
G Cbl Casitas B-lineage lymphoma ISO protein:decreased expression:bone RGD PMID:22623369 RGD:126925238 NCBI chr 9:44,142,976...44,234,259
Ensembl chr 9:44,142,976...44,234,049
JBrowse link
G Ccnb3 cyclin B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chr  X:6,979,652...7,041,635
Ensembl chr  X:6,979,652...7,041,619
JBrowse link
G Cdc5l cell division cycle 5-like (S. pombe) ISO DNA:amplification:cds (human) RGD PMID:18567798 RGD:10047050 NCBI chr17:45,391,887...45,433,707
Ensembl chr17:45,391,884...45,433,737
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 4:89,274,473...89,294,619
Ensembl chr 4:89,274,471...89,294,653
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Osteosarcoma, somatic
ClinVar Annotator: match by term: Osteogenic sarcoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11746983 More... NCBI chr 5:110,839,800...110,874,140
Ensembl chr 5:110,839,979...110,874,145
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 chr10:17,723,228...17,725,674
Ensembl chr10:17,723,218...17,725,674
JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chr13:92,354,783...92,389,053
Ensembl chr13:92,354,726...92,389,053
JBrowse link
G Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 exacerbates ISO human EFEMP2 knockdown cell line in a mouse model RGD PMID:28339091 RGD:42722011 NCBI chr19:5,473,946...5,482,520
Ensembl chr19:5,473,954...5,482,517
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Egr1 early growth response 1 ISO mRNA:decreased expression:tumor (human) RGD PMID:21283769 RGD:5131662 NCBI chr18:34,861,207...34,864,956
Ensembl chr18:34,859,823...34,864,984
JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2, subunit 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr12:78,862,072...78,887,010
Ensembl chr12:78,861,819...78,887,010
JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 severity ISO DNA:silent mutation:cds:p.N118N (human) RGD PMID:23098477 RGD:13207418 NCBI chr 7:19,344,067...19,356,524
Ensembl chr 7:19,344,778...19,356,524
JBrowse link
G Esrra estrogen related receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24967384 NCBI chr19:6,910,977...6,922,048
Ensembl chr19:6,910,977...6,921,813
Ensembl chr19:6,910,977...6,921,813
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 6:47,530,274...47,595,270
Ensembl chr 6:47,530,139...47,595,341
JBrowse link
G Folr1 folate receptor 1 (adult) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17473184 NCBI chr 7:101,858,331...101,870,788
Ensembl chr 7:101,858,331...101,870,788
JBrowse link
G Grm4 glutamate receptor, metabotropic 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23727862 NCBI chr17:27,422,387...27,513,826
Ensembl chr17:27,422,387...27,521,403
JBrowse link
G Gstm3 glutathione S-transferase, mu 3 ISO RGD PMID:20577141 RGD:5135042 NCBI chr 3:107,963,696...107,969,174
Ensembl chr 3:107,963,696...107,969,283
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:20577141 RGD:5135042 NCBI chr 3:107,895,854...107,898,685
Ensembl chr 3:107,895,821...107,898,686
JBrowse link
G Gstp1 glutathione S-transferase, pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152492 NCBI chr19:4,035,411...4,037,912
Ensembl chr19:4,035,407...4,037,985
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 treatment ISO RGD PMID:19449377 RGD:13792789 NCBI chr  X:152,001,896...152,004,442
Ensembl chr  X:152,001,845...152,004,442
JBrowse link
G Il3 interleukin 3 ISO RGD PMID:11268282 RGD:2317666 NCBI chr11:54,265,085...54,267,279
Ensembl chr11:54,265,303...54,267,277
JBrowse link
G Jun jun proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645001 NCBI chr 4:95,049,036...95,052,222
Ensembl chr 4:95,049,034...95,052,222
JBrowse link
G Kcnh1 potassium voltage-gated channel, subfamily H (eag-related), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248279 NCBI chr 1:192,189,144...192,510,159
Ensembl chr 1:192,190,774...192,510,159
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23886186 NCBI chr18:52,516,060...52,529,867
Ensembl chr18:52,516,067...52,529,867
JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO RGD PMID:19444910 RGD:2314410 NCBI chr 4:149,485,185...149,503,516
Ensembl chr 4:149,485,229...149,496,668
JBrowse link
G Met met proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr 6:17,463,349...17,573,980
Ensembl chr 6:17,463,800...17,573,980
JBrowse link
G Mir106b microRNA 106b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr 5:138,165,737...138,165,818
Ensembl chr 5:138,165,737...138,165,818
JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr16:17,124,061...17,124,142
Ensembl chr16:17,124,061...17,124,142
JBrowse link
G Mir302b microRNA 302b ISO CTD Direct Evidence: therapeutic CTD PMID:23845851 NCBI chr 3:127,545,228...127,545,301
Ensembl chr 3:127,545,228...127,545,301
JBrowse link
G Mir328 microRNA 328 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25605016 NCBI chr 8:105,308,364...105,308,460
Ensembl chr 8:105,308,364...105,308,460
JBrowse link
G Mir93 microRNA 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr 5:138,165,523...138,165,610
Ensembl chr 5:138,165,523...138,165,610
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25605016 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Msh2 mutS homolog 2 disease_progression ISO RGD PMID:25503122 RGD:126848779 NCBI chr17:87,672,532...87,723,713
Ensembl chr17:87,672,330...87,723,713
JBrowse link
G Msh6 mutS homolog 6 disease_progression ISO RGD PMID:25503122 RGD:126848779 NCBI chr17:87,975,050...87,990,892
Ensembl chr17:87,975,062...87,990,892
JBrowse link
G Mst1r macrophage stimulating 1 receptor (c-met-related tyrosine kinase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr 9:107,906,858...107,920,383
Ensembl chr 9:107,906,873...107,920,383
JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19159907 RGD:6893634 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17279585 NCBI chr16:38,248,349...38,294,849
Ensembl chr16:38,248,323...38,294,824
JBrowse link
G Phlda2 pleckstrin homology like domain, family A, member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22021909 NCBI chr 7:143,501,545...143,503,145
Ensembl chr 7:143,501,545...143,503,150
JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO mRNA:increased expression:muscle tissue (human) RGD PMID:22390931 RGD:11535057 NCBI chr  X:135,612,954...135,627,705
Ensembl chr  X:135,613,002...135,627,705
JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23911960 NCBI chr 8:84,969,622...84,974,811
Ensembl chr 8:84,969,587...84,974,834
JBrowse link
G Pth parathyroid hormone ISO human protein in rat model RGD PMID:22688001 RGD:7242897 NCBI chr 7:113,385,576...113,388,672
Ensembl chr 7:113,385,580...113,388,570
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Osteosarcoma, somatic
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 More... NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Rfc1 replication factor C (activator 1) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chr 5:65,261,852...65,338,617
Ensembl chr 5:65,261,850...65,335,670
JBrowse link
G Rgs1 regulator of G-protein signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 1:144,244,669...144,249,104
Ensembl chr 1:144,242,296...144,249,242
JBrowse link
G Runx2 runt related transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 PMID:25307878 NCBI chr17:44,495,987...44,814,797
Ensembl chr17:44,495,987...44,814,797
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 treatment ISO human gene in rat model
human protein in a mouse model
RGD PMID:17479108 PMID:17458711 RGD:8633656, RGD:8655561 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793039 NCBI chr10:63,319,005...63,339,035
Ensembl chr10:63,319,005...63,381,704
JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr11:83,473,073...83,506,743
Ensembl chr11:83,473,086...83,506,743
JBrowse link
G Topors topoisomerase I binding, arginine/serine-rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 4:40,259,606...40,269,841
Ensembl chr 4:40,259,601...40,269,850
JBrowse link
G Trp53 transformation related protein 53 ISO
EXP
ClinVar Annotator: match by term: Osteosarcoma, somatic
ClinVar Annotator: match by term: Osteogenic sarcoma
CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: marker/mechanism|therapeutic
OMIM
ClinVar
CTD
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 More... NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20158913 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28107196 NCBI chr 2:105,126,529...105,173,614
Ensembl chr 2:105,126,529...105,173,616
JBrowse link
G Zw10 zw10 kinetochore protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 9:49,055,576...49,078,775
Ensembl chr 9:49,055,613...49,078,775
JBrowse link
bone osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 thymoma viral proto-oncogene 1 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11746983 More... NCBI chr 5:110,839,800...110,874,140
Ensembl chr 5:110,839,979...110,874,145
JBrowse link
G Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 exacerbates
disease_progression
ISO mRNA, protein:increased expression:bone tissue (human )
protein:increased expression:bone tissue (human)
RGD PMID:28339091 PMID:27157136 RGD:42722011, RGD:42722013 NCBI chr19:5,473,946...5,482,520
Ensembl chr19:5,473,954...5,482,517
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:19434073 PMID:19470925 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1352883 PMID:2601691 PMID:7881418 PMID:9311732 PMID:9632788 More... NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 More... NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:25741868 PMID:26822237 NCBI chr17:24,595,816...24,632,676
Ensembl chr17:24,595,816...24,632,630
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14614
    disease of cellular proliferation 6917
      cancer 4989
        cell type cancer 3429
          sarcoma 244
            bone sarcoma 73
              osteosarcoma 62
                Oslam syndrome 0
                Premature Aging, Okamoto Type 0
                Retinoblastoma-Related Osteosarcoma 0
                adult extraosseous 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 0
                malignant fibrous histiocytoma of bone 0
                metachronous osteosarcoma of the bone 0
Path 2
Term Annotations click to browse term
  disease 14614
    disease of anatomical entity 14222
      musculoskeletal system disease 6128
        connective tissue disease 4081
          bone disease 2746
            Bone Neoplasms 701
              bone cancer 682
                bone sarcoma 73
                  osteosarcoma 62
                    Oslam syndrome 0
                    Premature Aging, Okamoto Type 0
                    Retinoblastoma-Related Osteosarcoma 0
                    adult extraosseous 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 0
                    malignant fibrous histiocytoma of bone 0
                    metachronous osteosarcoma of the bone 0
paths to the root