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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:bone sarcoma
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Accession:DOID:0080639 term browser browse the term
Definition:A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
bone osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14612911 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:15649950 PMID:15810020 PMID:16199547 PMID:16257342 PMID:16492927 PMID:16551709 PMID:16835864 PMID:16880452 PMID:16914568 PMID:16982735 PMID:17085682 PMID:17721994 PMID:18085035 PMID:18172190 PMID:18571837 PMID:18706089 PMID:19030985 PMID:19338683 PMID:19782031 PMID:19805189 PMID:21059199 PMID:21244692 PMID:21744992 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23296741 PMID:23329222 PMID:23334666 PMID:23415889 PMID:23469205 PMID:23960188 PMID:24033266 PMID:24390236 PMID:24506336 PMID:24713400 PMID:24723567 PMID:24728327 PMID:24884479 PMID:25117502 PMID:25186627 PMID:25231023 PMID:25431674 PMID:25452441 PMID:25503501 PMID:25525159 PMID:25583358 PMID:25741868 PMID:26084796 PMID:26270727 PMID:26332814 PMID:26446916 PMID:26467025 PMID:26506619 PMID:26580448 PMID:26641009 PMID:26681312 PMID:26787654 PMID:26822237 PMID:26822949 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27443514 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27751358 PMID:27798748 PMID:27806230 PMID:27878467 PMID:27978560 PMID:28125075 PMID:28135139 PMID:28135145 PMID:28166811 PMID:28195393 PMID:28211887 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28514723 PMID:28553140 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28828701 PMID:28873162 PMID:28874143 PMID:28944238 PMID:28981386 PMID:29146883 PMID:29335925 PMID:29351919 PMID:29484706 PMID:29489754 PMID:29520813 PMID:29522266 PMID:29596542 PMID:29785153 PMID:29875428 PMID:29902706 PMID:29958926 PMID:29961768 PMID:29987844 PMID:30067863 PMID:30152102 PMID:30287823 PMID:30303537 PMID:30322893 PMID:30344923 PMID:30374176 PMID:30676620 PMID:30851065 PMID:31050813 PMID:31159747 PMID:31214250 PMID:31220302 PMID:31300551 PMID:31360903 PMID:31415627 PMID:31422574 PMID:31512090 PMID:31811167 PMID:31843900 PMID:31948886 PMID:31980526 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:32566746 PMID:33134171 PMID:33558524 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Efemp2 EGF containing fibulin 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 chr 1:220,853,695...220,861,420
Ensembl chr 1:220,854,403...220,861,420
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 PMID:10966849 PMID:12541220 PMID:15643604 PMID:16269091 PMID:16449662 PMID:17096365 PMID:18677112 PMID:18682685 PMID:20041224 PMID:23532519 PMID:24225018 PMID:24688104 PMID:25741868 PMID:26925970 PMID:28492532 PMID:28575107 PMID:28724667 PMID:28873162 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 PMID:8164043 PMID:8401536 PMID:8423216 PMID:8633021 PMID:8825920 PMID:9047394 PMID:9242456 PMID:9569050 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11101847 PMID:11139324 PMID:11479205 PMID:11782540 PMID:12007217 PMID:12619118 PMID:12672316 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15951970 PMID:15977174 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19556618 PMID:19881536 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20689556 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22698404 PMID:22811390 PMID:22887876 PMID:22899716 PMID:22915647 PMID:23031740 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23792586 PMID:24033266 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28873162 PMID:28975465 PMID:29478780 PMID:29489754 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30720243 PMID:30816478 PMID:31775759 PMID:32000721 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
chondrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chi3l1 chitinase 3 like 1 ISO mRNA:increased expression:tumor (human) RGD PMID:12598313 RGD:4892624 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:23770606, PMID:23770606 RGD:8657387 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Chondrosarcoma
mRNA:decreased expression:epiphyseal plate (human)
ClinVar Annotator: match by OMIM:215300
OMIM
ClinVar
PMID:8981950 PMID:25741868, PMID:17226760 RGD:13208235 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 IEP protein:increased expression:growth plate RGD PMID:17907424 RGD:11568634 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Mtor mechanistic target of rapamycin kinase disease_progression IMP RGD PMID:22761648 RGD:10040952 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO extraskeletal myxoid chondrosarcomas (EMC) RGD PMID:10602519 RGD:1599281 NCBI chr10:70,689,863...70,721,892
Ensembl chr10:70,689,863...70,721,892
JBrowse link
extraskeletal myxoid chondrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO OMIM NCBI chr 5:63,781,801...63,822,890
Ensembl chr 5:63,781,801...63,821,637
JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO OMIM NCBI chr10:70,689,863...70,721,892
Ensembl chr10:70,689,863...70,721,892
JBrowse link
mesenchymal chondrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Cd99 CD99 molecule (Xg blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr20:56,192,426...56,196,961
Ensembl chr20:56,192,390...56,197,025
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap12 A-kinase anchoring protein 12 IEP mRNA,protein:decreased expression:osteoblast: RGD PMID:19825367 RGD:5147850 NCBI chr 1:40,816,130...40,906,582
Ensembl chr 1:40,816,107...40,906,581
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Osteogenic sarcoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:21311599 NCBI chr17:85,360,439...85,370,283
Ensembl chr17:85,364,483...85,368,208
JBrowse link
G Brca2 BRCA2, DNA repair associated IAGP DNA:nonsense mutation RGD PMID:16964288 RGD:1599505 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Cbl Cbl proto-oncogene ISO protein:decreased expression:bone RGD PMID:22623369 RGD:126925238 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Ccnb3 cyclin B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chr  X:16,300,752...16,402,206
Ensembl chr  X:16,337,102...16,402,202
JBrowse link
G Cdc5l cell division cycle 5-like ISO DNA:amplification:cds (human) RGD PMID:18567798 RGD:10047050 NCBI chr 9:17,949,764...17,988,514
Ensembl chr 9:17,949,764...17,988,509
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 PMID:9166859 PMID:9389568 PMID:10389768 PMID:10667595 PMID:10719365 PMID:11687599 PMID:15075790 PMID:16234564 PMID:16818274 PMID:16896043 PMID:17218939 PMID:18335566 PMID:18519632 PMID:21085193 PMID:21462282 PMID:22440936 PMID:24733792 PMID:25078331 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26670561 PMID:26681309 PMID:27756164 PMID:27960642 PMID:28166811 PMID:28454591 PMID:28492532 PMID:28640387 PMID:28765326 PMID:28830827 PMID:30207590 PMID:30339520 PMID:31921681 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Osteogenic sarcoma
ClinVar Annotator: match by term: Osteosarcoma, somatic
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:259500
OMIM
ClinVar
CTD
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11746983 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14612911 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:15649950 PMID:15810020 PMID:16199547 PMID:16257342 PMID:16492927 PMID:16551709 PMID:16835864 PMID:16880452 PMID:16914568 PMID:16982735 PMID:17085682 PMID:17721994 PMID:18085035 PMID:18172190 PMID:18571837 PMID:18706089 PMID:19030985 PMID:19338683 PMID:19782031 PMID:19805189 PMID:21059199 PMID:21244692 PMID:21744992 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23296741 PMID:23329222 PMID:23334666 PMID:23415889 PMID:23469205 PMID:23960188 PMID:24033266 PMID:24390236 PMID:24506336 PMID:24628946 PMID:24713400 PMID:24723567 PMID:24728327 PMID:24884479 PMID:25117502 PMID:25186627 PMID:25231023 PMID:25431674 PMID:25452441 PMID:25503501 PMID:25525159 PMID:25583358 PMID:25741868 PMID:26084796 PMID:26270727 PMID:26332814 PMID:26446916 PMID:26467025 PMID:26506619 PMID:26580448 PMID:26641009 PMID:26681312 PMID:26787654 PMID:26822237 PMID:26822949 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27443514 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27751358 PMID:27798748 PMID:27806230 PMID:27878467 PMID:27978560 PMID:28125075 PMID:28135139 PMID:28135145 PMID:28166811 PMID:28195393 PMID:28211887 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28514723 PMID:28553140 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28828701 PMID:28873162 PMID:28874143 PMID:28944238 PMID:28981386 PMID:29146883 PMID:29335925 PMID:29351919 PMID:29484706 PMID:29489754 PMID:29520813 PMID:29522266 PMID:29596542 PMID:29785153 PMID:29875428 PMID:29902706 PMID:29958926 PMID:29961768 PMID:29987844 PMID:30067863 PMID:30152102 PMID:30287823 PMID:30303537 PMID:30322893 PMID:30344923 PMID:30374176 PMID:30676620 PMID:30851065 PMID:31050813 PMID:31159747 PMID:31214250 PMID:31220302 PMID:31300551 PMID:31360903 PMID:31415627 PMID:31422574 PMID:31512090 PMID:31811167 PMID:31843900 PMID:31948886 PMID:31980526 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:32566746 PMID:33134171 PMID:33558524 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 IAGP DNA:deletion (rat) RGD PMID:19825367 RGD:5147850 NCBI chr 1:12,823,363...12,825,806
Ensembl chr 1:12,823,363...12,825,786
JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
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 1:220,853,695...220,861,420
Ensembl chr 1:220,854,403...220,861,420
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Egr1 early growth response 1 ISO mRNA:decreased expression:tumor (human) RGD PMID:21283769 RGD:5131662 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 6:102,048,372...102,073,041
Ensembl chr 6:102,048,372...102,073,041
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 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Osteosarcoma ClinVar PMID:19434073 PMID:19470925 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Esrra estrogen related receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24967384 NCBI chr 1:222,168,729...222,178,842
Ensembl chr 1:222,168,730...222,178,725
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549, PMID:26265454 RGD:11532507 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17473184 NCBI chr 1:166,934,457...166,945,864
Ensembl chr 1:166,934,460...166,943,592
JBrowse link
G Grm4 glutamate metabotropic receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23727862 NCBI chr20:6,745,682...6,791,521
Ensembl chr20:6,745,682...6,791,519
JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:20577141 RGD:5135042 NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:20577141 RGD:5135042 NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152492 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 treatment ISO RGD PMID:19449377 RGD:13792789 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Il3 interleukin 3 IMP RGD PMID:11268282 RGD:2317666 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645001 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248279 NCBI chr13:110,920,712...111,232,291
Ensembl chr13:110,920,737...111,232,269
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23886186 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing IEP RGD PMID:19444910 RGD:2314410 NCBI chr 5:166,430,305...166,443,485
Ensembl chr 5:166,430,400...166,442,284
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mir106b microRNA 106b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr12:19,307,752...19,307,833
Ensembl chr12:19,307,752...19,307,833
JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
JBrowse link
G Mir328 microRNA 328 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25605016 NCBI chr19:37,263,199...37,263,282
Ensembl chr19:37,263,199...37,263,282
JBrowse link
G Mir93 microRNA 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr12:19,307,543...19,307,629
Ensembl chr12:19,307,543...19,307,629
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25605016 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Msh2 mutS homolog 2 disease_progression ISO RGD PMID:25503122 RGD:126848779 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
G Msh6 mutS homolog 6 disease_progression ISO RGD PMID:25503122 RGD:126848779 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr 8:116,686,601...116,700,132
Ensembl chr 8:116,686,601...116,700,132
JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19159907 RGD:6893634 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17279585 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G Phlda2 pleckstrin homology-like domain, family A, member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22021909 NCBI chr 1:216,701,345...216,704,479
Ensembl chr 1:216,702,319...216,703,534
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:muscle tissue (human) RGD PMID:22390931 RGD:11535057 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23911960 NCBI chr19:26,084,816...26,090,095
Ensembl chr19:26,084,903...26,090,094
JBrowse link
G Pth parathyroid hormone ISO human protein in rat model RGD PMID:22688001 RGD:7242897 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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:2601691 PMID:7881418 PMID:9311732 PMID:9632788 PMID:9671401 PMID:9973307 PMID:10486322 PMID:10966849 PMID:12541220 PMID:12955724 PMID:14722923 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15884040 PMID:16269091 PMID:16449662 PMID:17096365 PMID:17960112 PMID:18677112 PMID:18682685 PMID:20041224 PMID:23532519 PMID:24225018 PMID:24688104 PMID:25741868 PMID:26396485 PMID:26925970 PMID:27137931 PMID:27582626 PMID:28492532 PMID:28575107 PMID:28724667 PMID:28873162 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chr14:44,627,528...44,702,205
Ensembl chr14:44,580,216...44,702,203
JBrowse link
G Rgs1 regulator of G-protein signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr13:61,066,196...61,070,772
Ensembl chr13:61,066,153...61,070,599
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 PMID:25307878 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
G Serpinf1 serpin family 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 chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793039 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr10:70,689,863...70,721,892
Ensembl chr10:70,689,863...70,721,892
JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 5:56,554,956...56,566,503
Ensembl chr 5:56,554,969...56,567,320
JBrowse link
G Tp53 tumor protein p53 ISO
IMP
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
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 PMID:8164043 PMID:8401536 PMID:8423216 PMID:8633021 PMID:8825920 PMID:9047394 PMID:9242456 PMID:9569050 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11101847 PMID:11139324 PMID:11479205 PMID:11782540 PMID:12007217 PMID:12085209 PMID:12619118 PMID:12672316 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15951970 PMID:15977174 PMID:16211088 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19556618 PMID:19881536 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20689556 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22698404 PMID:22811390 PMID:22887876 PMID:22899716 PMID:22915647 PMID:23031740 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23792586 PMID:24033266 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27137931 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28873162 PMID:28975465 PMID:29478780 PMID:29489754 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30720243 PMID:30816478 PMID:31775759 PMID:32000721, PMID:27528400 RGD:12738450 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Osteosarcoma
ClinVar Annotator: match by term: Osteoblastic Osteosarcoma
ClinVar PMID:25741868 PMID:26822237 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20158913 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28107196 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
G Zw10 zw10 kinetochore protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 8:53,365,881...53,390,742
Ensembl chr 8:53,365,857...53,390,930
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    disease of cellular proliferation 6946
      Neoplasms by Histologic Type 4765
        cell type cancer 3394
          sarcoma 243
            bone sarcoma 73
              bone angioendothelial sarcoma 0
              chondrosarcoma + 12
              fibrosarcoma of bone 0
              multifocal osteogenic sarcoma + 0
              osteosarcoma + 62
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      musculoskeletal system disease 6419
        connective tissue disease 4426
          Connective Tissue Neoplasms 1618
            connective tissue cancer 703
              bone cancer 671
                bone sarcoma 73
                  bone angioendothelial sarcoma 0
                  chondrosarcoma + 12
                  fibrosarcoma of bone 0
                  multifocal osteogenic sarcoma + 0
                  osteosarcoma + 62
paths to the root