osteosarcoma - Ontology Report - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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	go back to main search page
Accession:	DOID:3347	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:	OMIM: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:
Rat (95) Mouse (97) Human (879) Chinchilla (65) Bonobo (67) Dog (224) Squirrel (65) Pig (66) Green Monkey (66) Naked Mole-rat (63) All
Genes (74) Strains (1) Cell Lines (20)

osteosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 12

mRNA,protein:decreased expression:osteoblast:

RGD

NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:40,730,123...40,819,886

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Osteosarcoma, somatic

PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More...

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

ATRX, chromatin remodeler

ClinVar Annotator: match by term: Osteosarcoma, somatic

PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532

NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330

G

BCL6 co-repressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613

G

BMI1 proto-oncogene, polycomb ring finger

CTD Direct Evidence: marker/mechanism

NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690

G

BRCA2, DNA repair associated

DNA:nonsense mutation

RGD

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539

G

Cbl proto-oncogene

protein:decreased expression:bone

RGD

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

cyclin B3

CTD Direct Evidence: marker/mechanism

NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885

G

cell division cycle 5-like

DNA:amplification:cds (human)

RGD

NCBI chr 9:15,564,949...15,603,453
Ensembl chr 9:15,564,767...15,603,450

G

cyclin-dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Osteoblastic osteosarcoma

PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 More...

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

checkpoint kinase 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteosarcoma, somatic

CTD
ClinVar
OMIM

PMID:3313277 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 More...

NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286

G

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2

DNA:deletion (rat)

RGD

NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897

G

C-X-C motif chemokine receptor 4

ameliorates

human cells in mouse model

RGD

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

cytochrome P450, family 3, subfamily a, polypeptide 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008

G

discoidin domain receptor tyrosine kinase 1

severity

protein:increased expression:bone (human)
human cells in mouse model

RGD

PMID:29039472 PMID:29039472

RGD:151347601, RGD:151347601

NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468

G

dihydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713

G

E2F transcription factor 1

severity

protein:increased expression:bone (human)
human cells in mouse model

RGD

PMID:29039472 PMID:29039472

RGD:151347601, RGD:151347601

NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361

G

EGF containing fibulin extracellular matrix protein 2

exacerbates

human EFEMP2 knockdown cell line in a mouse model

RGD

NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

early growth response 1

mRNA:decreased expression:tumor (human)

RGD

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

eukaryotic translation initiation factor 2 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:97,672,829...97,697,499
Ensembl chr 6:97,672,766...97,706,225

G

ERCC excision repair 1, endonuclease non-catalytic subunit

severity

DNA:silent mutation:cds:p.N118N (human)

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

estrogen related receptor, alpha

CTD Direct Evidence: marker/mechanism

PMID:24967384 PMID:34524571

NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:14767549 PMID:26265454

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

folate receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667

G

glutamate metabotropic receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr20:5,484,172...5,572,821
Ensembl chr20:5,481,124...5,572,821

G

glutathione S-transferase mu 3

RGD

NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475

G

glutathione S-transferase, mu 5

NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

histone deacetylase 6

CTD Direct Evidence: marker/mechanism

NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441

G

hydroxysteroid (17-beta) dehydrogenase 10

treatment

RGD

NCBI chr X:21,089,142...21,091,603
Ensembl chr X:21,089,122...21,109,488

G

interleukin 3

RGD

NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

potassium voltage-gated channel subfamily H member 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740

G

lysyl oxidase

CTD Direct Evidence: marker/mechanism

NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477

G

leucine zipper and CTNNBIP1 domain containing

RGD

NCBI chr 5:159,928,260...159,941,512
Ensembl chr 5:159,920,439...159,939,685

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

microRNA 106b

CTD Direct Evidence: marker/mechanism

NCBI chr12:17,043,344...17,043,425
Ensembl chr12:17,043,344...17,043,425

G

microRNA 130b

CTD Direct Evidence: marker/mechanism

NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244

G

microRNA 328

CTD Direct Evidence: marker/mechanism

NCBI chr19:33,184,766...33,184,849
Ensembl chr19:33,184,766...33,184,849

G

microRNA 494

severity
ameliorates

RGD

PMID:35117781 PMID:35117781

RGD:156430319, RGD:156430319

NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793

G

microRNA 93

CTD Direct Evidence: marker/mechanism

NCBI chr12:17,043,135...17,043,221
Ensembl chr12:17,043,135...17,043,221

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

mutS homolog 2

disease_progression

RGD

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

mutS homolog 6

disease_progression

RGD

NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956

G

macrophage stimulating 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455

G

methylenetetrahydrofolate reductase

treatment

DNA:transition:cds:g.677C>T (human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

PMID:24646477 PMID:34508303

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

nuclear receptor subfamily 1, group I, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658

G

pleckstrin homology-like domain, family A, member 2

CTD Direct Evidence: therapeutic

NCBI chr 1:198,696,897...198,699,292
Ensembl chr 1:198,696,897...198,697,836

G

PRAME like, X-linked 1

severity

mRNA:increased expression:muscle tissue (human)

RGD

NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096

G

peroxiredoxin 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194

G

polypyrimidine tract binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,842,574...9,852,332
Ensembl chr 7:9,842,574...9,852,397

G

parathyroid hormone

human protein in rat model

RGD

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

G

protein tyrosine phosphatase, receptor type, B

disease_progression

mRNA:decreased expression:bone (human)

RGD

NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748

G

RB transcriptional corepressor 1

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 chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

replication factor C subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370

G

regulator of G-protein signaling 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:56,018,546...56,022,889
Ensembl chr13:56,018,554...56,022,984

G

RUNX family transcription factor 2

CTD Direct Evidence: marker/mechanism

PMID:24646477 PMID:25307878

NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167

G

serpin family F member 1

treatment

human gene in rat model
human protein in a mouse model

RGD

PMID:17479108 PMID:17458711

RGD:8633656, RGD:8655561

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

sirtuin 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260

G

SRY-box transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338

G

TATA-box binding protein associated factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr10:68,272,921...68,304,951
Ensembl chr10:68,272,969...68,304,949

G

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937

G

tumor protein p53

CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Osteosarcoma, somatic
OMIM:259500

CTD
ClinVar
OMIM
MouseDO
RGD

PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

G

zinc finger, MIZ-type containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:1,027,083...1,232,616
Ensembl chr16:1,027,325...1,232,597

G

zw10 kinetochore protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:49,396,541...49,424,743
Ensembl chr 8:49,396,545...49,421,805

bone osteosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More...

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

ATRX, chromatin remodeler

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532

NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330

G

checkpoint kinase 2

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:3313277 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 More...

NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286

G

EGF containing fibulin extracellular matrix protein 2

exacerbates
disease_progression

mRNA, protein:increased expression:bone tissue (human )
protein:increased expression:bone tissue (human)

RGD

PMID:28339091 PMID:27157136

RGD:42722011, RGD:42722013

NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414

G

ERCC excision repair 2, TFIIH core complex helicase subunit

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:19434073 PMID:19470925 PMID:24033266 PMID:24728327 PMID:25741868 More...

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:9311732 More...

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

tumor protein p53

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

TSC complex subunit 2

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:25741868 PMID:26822237

NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951

localized osteosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin G1

treatment

human cells in mouse model

RGD

NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641

peripheral osteosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RecQ like helicase 4

ClinVar Annotator: match by term: High grade surface osteosarcoma

PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 More...

NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619

Term paths to the root

Path 1
Term	Annotations
disease	18976
disease of cellular proliferation	7746
cancer	5576
cell type cancer	3837
sarcoma	286
bone sarcoma	86
osteosarcoma	75
Oslam syndrome	0
Premature Aging, Okamoto Type	0
Retinoblastoma-Related Osteosarcoma	0
bone leiomyosarcoma	0
bone osteosarcoma +	9
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
disease	18976
disease of anatomical entity	18260
musculoskeletal system disease	8304
connective tissue disease	5786
bone disease	4302
Bone Neoplasms	780
bone cancer	758
bone sarcoma	86
osteosarcoma	75
Oslam syndrome	0
Premature Aging, Okamoto Type	0
Retinoblastoma-Related Osteosarcoma	0
bone leiomyosarcoma	0
bone osteosarcoma +	9
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