MCID: OST018
MIFTS: 81

Osteosarcoma malady

Bone diseases, Cancer diseases categories

Summaries for Osteosarcoma

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Osteosarcoma is the most common cancerous (malignant) bone tumor in youth. the average age at diagnosis is 15. boys and girls have a similar incidence of this tumor until late adolescence, at which time boys are more commonly affected. in rare cases, osteosarcoma occurs in adults. the cause of osteosarcoma is not known. in some cases, it runs in families, and at least one gene has been linked to increased risk. although osteosarcoma tends to occur in the larger bones, such as the shin (near the knee), thigh (near the knee) and upper arm (near the shoulder), it can occur in any bone.a number of variants of osteosarcoma exist, including conventional types (osteoblastic, chondroblastic, and fibroblastic), telangiectatic, multifocal, parosteal, and periosteal. treatment usually starts after a biopsy of the tumor and includes chemotherapy followed by surgery. last updated: 6/7/2009

MalaCards: Osteosarcoma, also known as osteogenic sarcoma, is related to chondroblastic osteosarcoma and sarcoma. An important gene associated with Osteosarcoma is TP53 (tumor protein p53), and among its related pathways are Rho Family GTPases and Prostate Cancer. The drugs cisplatin and cisplatin pwdr and the compounds tyrosine and cisplatin have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and breast, and related mouse phenotypes are mortality/aging and growth/size.

Wikipedia:63 Osteosarcoma is an aggressive malignant neoplasm arising from primitive transformed cells of mesenchymal... more...

Description from OMIM:46 259500

Aliases & Classifications for Osteosarcoma

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 22GTR, 34MeSH, 56SNOMED-CT, 39NCIt, 57SNOMED-CT via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
osteosarcoma:
Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

osteosarcoma 8 9 42 46 10 44 48 60
osteogenic sarcoma 8 42 48
osteosarcoma - disorder 8 22
osteosarcoma, no icd-o subtype 8
neoplasms, bone tissue 60
bone tissue neoplasm 8
skeletal sarcoma 8
osteoid sarcoma 8


External Ids:

Disease Ontology8 DOID:3347
MeSH34 D012516
NCIt39 C9145
OMIM46 259500
SNOMED-CT via Orphanet57 307576001, 21708004
MESH via Orphanet35 D012516
ICD10 via Orphanet26 C40, C41
UMLS via Orphanet61 C0029463

Related Diseases for Osteosarcoma

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Osteosarcoma family:

Localized Osteosarcoma

Diseases related to Osteosarcoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 270)
idRelated DiseaseScoreTop Affiliating Genes
1chondroblastic osteosarcoma30.9BGLAP
2sarcoma30.9TP53, TWIST1, EZR, CD99, CDK4, CHEK2
3chondrosarcoma30.7CDK4, MDM2
4retinoblastoma30.7FOS, MDM2, RB1, CHEK2, CDK4, TP53
5fibrous dysplasia30.4BGLAP, FOS
6rhabdomyosarcoma30.4MDM2, RB1, CDK4, CD99, EZR, TP53
7breast cancer30.3TNFRSF11A, FOLR1, FOSB, FOS, MDM2, RB1
8fibrosarcoma30.3FOS, MDM2
9li-fraumeni syndrome30.2MDM2, RB1, CHEK2, TP53
10leukemia30.2FOLR1, FOS, MDM2, RB1, CHEK2, CDK4
11liposarcoma30.2MDM2, RB1, CDK4, TSPAN31, TP53
12squamous cell carcinoma30.0FOLR1, FOS, MDM2, RB1, CHEK2, CDK4
13leiomyosarcoma30.0TP53, CDK4, RB1, MDM2
14hepatitis30.0CD99
15neuroblastoma30.0TP53
16colon cancer29.9FOS, MDM2, RB1, CHEK2, CDK4, EZR
17adenocarcinoma29.9FOLR1, MDM2, RB1, CHEK2, CDK4, EZR
18melanoma29.9MDM2, RB1, CHEK2, CDK4, EZR, TP53
19lung cancer29.9FOS, MDM2, RB1, CHEK2, CDK4, TP53
20adenoma29.9TP53, CDK4, RB1
21bladder carcinoma29.9MDM2, RB1, TP53
22meningioma29.9EZR
23transitional cell carcinoma29.9TP53, RB1, MDM2
24gliosarcoma29.9CDK4
25hepatocellular carcinoma29.7FOS, MDM2, RB1, CDK4, EZR, TWIST1
26prostate cancer29.7BGLAP, FOS, RB1, CHEK2, CDK4, EZR
27astrocytoma29.7FOS, MDM2, RB1, CDK4, EZR, TP53
28bone carcinoma29.7BGLAP, TNFRSF11A, MDM2, RB1, EZR
29cervical cancer29.7TP53, CDK4, RB1, MDM2
30alveolar rhabdomyosarcoma29.7MDM2, RB1, CDK4
31synovial sarcoma29.7CD99
32thyroid cancer29.7TP53, BGLAP
33bone osteosarcoma10.8
34pediatric osteosarcoma10.7
35localized osteosarcoma10.6
36multifocal osteogenic sarcoma10.5
37extraosseous osteosarcoma10.5
38breast osteosarcoma10.5
39osteoblastoma10.4
40juxtacortical osteosarcoma10.4
41fibrous histiocytoma10.4
42histiocytoma10.4
43rothmund-thomson syndrome10.4
44malignant fibrous histiocytoma of bone10.3
45peripheral osteosarcoma10.3
46paget's disease of bone10.3
47conventional central osteosarcoma10.3
48asynchronous multifocal osteogenic sarcoma10.2
49synchronous multifocal osteogenic sarcoma10.2
50diamond-blackfan anemia10.2

Graphical network of the top 20 diseases related to Osteosarcoma:



Diseases related to osteosarcoma

Clinical Features for Osteosarcoma

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Sources:
46OMIM
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Clinical features from OMIM:

259500

Drugs & Therapeutics for Osteosarcoma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Osteosarcoma

Drug clinical trials:

Search ClinicalTrials for Osteosarcoma

Search NIH Clinical Center for Osteosarcoma

Search CenterWatch for Osteosarcoma

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Osteosarcoma

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Sources:
22GTR
See all sources

Genetic tests related to Osteosarcoma:

id Genetic test Affiliating Genes
1 Osteosarcoma22

Anatomical Context for Osteosarcoma

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Sources:
32MalaCards
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MalaCards organs/tissues related to Osteosarcoma:

32
Bone, Lung, Breast, Endothelial, Liver, Thyroid, Prostate, Colon, Kidney, Monocytes, T cells, Ovary, Smooth muscle, Nk cells, Bone marrow, Lymph node, Small intestine, Heart, Spinal cord, Cervix, Testes, Pancreas, Uterus, Brain, Adrenal gland, Skin

Animal Models for Osteosarcoma or affiliated genes

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36MGI
See all sources

Publications for Osteosarcoma

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50PubMed
See all sources

Articles related to Osteosarcoma:

(show top 50)    (show all 2134)
idTitleAuthorsYear
1
Effects of aurothiomalate treatment on canine osteosarcoma in a murine xenograft model. (24304691)
2014
2
Clinical significance of microRNA-183/Ezrin axis in judging the prognosis of patients with osteosarcoma. (24352761)
2014
3
Silencing of Barkor/ATG14 sensitizes osteosarcoma cells to cisplatina89induced apoptosis. (24337183)
2014
4
Prognostic factors of early metastasis and mortality in dogs with appendicular osteosarcoma after receiving surgery: an individual patient data meta-analysis. (24054333)
2013
5
Evaluation of quercetin as a potential drug in osteosarcoma treatment. (23564766)
2013
6
Primary tumorectomy promotes angiogenesis and pulmonary metastasis in osteosarcoma-bearing nude mice. (23503860)
2013
7
Osteosarcoma tumor thrombus: a case report with a review of the literature. (23466623)
2013
8
Hemicortical resection and reconstruction using pasteurised autograft for parosteal osteosarcoma of the distal femur. (23997145)
2013
9
Metastatic osteosarcoma to the stomach and ascending colon in a pediatric patient causing gastrointestinal hemorrhage. (23583157)
2013
10
TNFI+ promotes osteosarcoma progression by maintaining tumor cells in an undifferentiated state. (24336323)
2013
11
Successful management of early recurrence after surgery for primary rib osteosarcoma in an adult. (23599185)
2013
12
The effect of electroacupuncture on osteosarcoma tumor growth and metastasis: analysis of different treatment regimens. (24228059)
2013
13
Combined MicroRNA-340 and ROCK1 mRNA Profiling Predicts Tumor Progression and Prognosis in Pediatric Osteosarcoma. (24398981)
2013
14
Contralateral referred pain in a patient with intramedullary spinal cord metastasis from extraskeletal small cell osteosarcoma. (24090113)
2013
15
An abdominal extraskeletal osteosarcoma: A case report. (24137451)
2013
16
Therapeutic approaches targeting midkine suppress tumor growth and lung metastasis in osteosarcoma. (22099874)
2012
17
Expression and significance of Kruppel-like factor 6 gene in osteosarcoma. (22855058)
2012
18
Spontaneous pneumothorax in children with osteosarcoma: report of three cases and review of the literature. (23175928)
2012
19
Liposarcoma of the retroperitoneum with dedifferentiation to osteosarcoma: a case report. (21467867)
2011
20
A prognostic evaluation of vascular endothelial growth factor in children and young adults with osteosarcoma. (21416580)
2011
21
Inhibition of mTOR signaling by oleanolic acid contributes to its anti-tumor activity in osteosarcoma cells. (21246613)
2011
22
Immunoexpression of Ezrin and CD44 in patients with osteosarcoma. (20562647)
2010
23
Primary osteosarcoma of the urinary bladder treated with external radiotherapy in a patient with a history of transitional cell carcinoma: a case report. (20181254)
2010
24
Pulmonary toxocariasis masquerading as metastatic tumor nodules in a child with osteosarcoma. (19637318)
2009
25
Expression of Ezrin correlates with lung metastasis in Chinese patients with osteosarcoma. (19331807)
2009
26
Identification of interactive networks of gene expression associated with osteosarcoma oncogenesis by integrated molecular profiling. (19286668)
2009
27
Expression of Beclin1 in osteosarcoma and the effects of down-regulation of autophagy on the chemotherapeutic sensitivity. (20037818)
2009
28
Biological importance of a polymorphic CA sequence within intron 1 of the epidermal growth factor receptor gene (EGFR) in high grade central osteosarcomas. (18464244)
2008
29
Initial tumor size predicts histologic response and survival in localized osteosarcoma patients. (18270971)
2008
30
Pigment epithelium-derived factor overexpression inhibits orthotopic osteosarcoma growth, angiogenesis and metastasis. (17479108)
2007
31
Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome. (17264332)
2007
32
Highly frequent allelic loss of chromosome 6q16-23 in osteosarcoma: involvement of cyclin C in osteosarcoma. (17089020)
2006
33
Ribozyme mediated down-regulation of thrombospondin receptor CD36 inhibits the growth of the human osteosarcoma cell line. (14719070)
2004
34
Osteosarcoma of the Skull Base after Radiation Therapy in a Patient with McCune-Albright Syndrome: Case Report. (15912163)
2003
35
Interleukin-12 and interleukin-18 change ICAM-I expression, and enhance natural killer cell mediated cytolysis of human osteosarcoma cells. (14660053)
2002
36
Circulating concentrations of IGF-I and IGFBP-3 are not predictive of incidence or clinical behavior of pediatric osteosarcoma. (11344491)
2001
37
Sensitization and caffeine potentiation of cisplatin cytotoxicity resulting from introduction of wild-type p53 gene in human osteosarcoma. (10769661)
2000
38
Juxtacortical osteosarcoma. A distinct malignant bone neoplasm. (11080792)
2000
39
Possible involvement of bcl-2 suppression in wild-type p53 gene-dependent cell growth repression in rat osteosarcoma cells. (10930045)
2000
40
Two human osteoblast-like osteosarcoma cell lines show distinct expression and differential regulation of parathyroid hormone-related protein. (10352098)
1999
41
Matrix metalloproteinase-9 (MMP-9) expression in childhood osseous osteosarcoma. (9835898)
1998
42
Human osteosarcoma (OST) induces mouse reactive bone formation in xenograft system. (8922642)
1996
43
Expression of prolactin receptors in human osteosarcoma cells. (8954126)
1996
44
1 alpha, 25-dihydroxy-16-ene-23-yne-26,27-hexafluorocholecalciferol (Ro24-5531) modulation of insulin-like growth factor-binding protein-3 and induction of differentiation and growth arrest in a human osteosarcoma cell line. (8550801)
1996
45
Expression of growth factors and their receptors in human osteosarcomas. Immunohistochemical detection of epidermal growth factor, platelet-derived growth factor and their receptors: its correlation with proliferating activities and p53 expression. (8548600)
1995
46
Expression of matrix metalloproteinase 9 (92-kDa gelatinase/type IV collagenase) induced by tumour necrosis factor alpha correlates with metastatic ability in a human osteosarcoma cell line. (8032535)
1994
47
Pediatric osteosarcoma: treatment of the primary tumor with intraarterial cis-diamminedichloroplatinum-II (CDP)--advantages, disadvantages, and controversial issues. (8096762)
1993
48
Detection of bone-type alkaline phosphatase by monoclonal antibodies reacting with human osteosarcoma-associated antigen. (1715340)
1991
49
Light and electron microscopic examination of fine-needle aspirates in the preoperative diagnosis of osteogenic tumors: a study of 21 osteosarcomas and two osteoblastomas. (2323294)
1990
50
Computed tomography of long-bone osteosarcoma. (286376)
1979

Genetic Variations for Osteosarcoma

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Expression for genes affiliated with Osteosarcoma

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Osteosarcoma

Search GEO for disease gene expression data for Osteosarcoma.

Pathways for genes affiliated with Osteosarcoma

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Sources:
51QIAGEN, 37NCBI BioSystems Database, 4Cell Signaling Technology, 29KEGG, 12EMD Millipore, 55SinoBiological, 53Reactome, 52R&D Systems
See all sources

Pathways related to Osteosarcoma according to GeneCards/GeneDecks:

(show all 46)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.8TNFRSF11A, FOSB, FOS, MDM2, RB1, CHEK2
2
Hide members
11.5TP53, CDK4, CHEK2, RB1, MDM2, FOS
3
Hide members
11.5FOSB, FOS, MDM2, RB1, CHEK2, CDK4
4
Hide members
11.3MDM2, RB1, CHEK2, CDK4, TP53
511.3MDM2, RB1, CHEK2, CDK4, TP53
611.3FOS, RB1, CHEK2, CDK4, TP53
711.3FOS, MDM2, RB1, CDK4, TP53
8
Transcription P53 signaling pathway
Hide members
11.3FOS, MDM2, RB1, CDK4, TP53
9
Hide members
11.3FOS, MDM2, RB1, CHEK2, CDK4
10
Hide members
11.3XRN1, MDM2, RB1, CHEK2, CDK4
11
Hide members
11.1MDM2, RB1, CHEK2, TP53
1211.1MDM2, CHEK2, CDK4, TP53
1311.1MDM2, CHEK2, CDK4, TP53
14
Hide members
11.1MDM2, RB1, CDK4, TP53
1511.1MDM2, RB1, CDK4, TP53
16
Hide members
11.1TP53, CDK4, RB1, MDM2
1711.1TP53, CDK4, RB1, MDM2
18
Hide members
11.1MDM2, RB1, CHEK2, CDK4
1911.1TP53, CDK4, RB1, FOS
20
Hide members
11.1FOS, RB1, CDK4, TP53
21
Cell cycle Cell cycle (generic schema)
Hide members
11.1FOS, RB1, CHEK2, CDK4
2211.1CDK4, CHEK2, RB1, FOS
2311.1TP53, TWIST1, EZR, MDM2
2411.1BGLAP, FOS, MDM2, TP53
25
Hide members
11.1FOSB, FOS, RB1, CDK4
2611.0RB1, CHEK2, TP53
2711.0MDM2, CHEK2, TP53
28
Hide members
11.0TP53, CHEK2, MDM2
2911.0TP53, CHEK2, MDM2
3011.0TP53, RB1, MDM2
3111.0TP53, RB1, MDM2
32
Hide members
11.0RB1, CDK4, TP53
3311.0TP53, CDK4, RB1
3411.0MDM2, CDK4, TP53
3511.0FOS, MDM2, TP53
3611.0FOS, RB1, CDK4
3711.0BGLAP, MDM2, RB1
3811.0TWIST1, RB1, BGLAP
39
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
11.0FOSB, FOS, TP53
40
Hide members
11.0TP53, FOS, FOSB
4111.0FOSB, FOS, RB1
4210.8TP53, CHEK2
4310.8TP53, CHEK2
4410.8TP53, OS9
4510.6CHEK2
46
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
10.6TNFRSF11A

Compounds for genes affiliated with Osteosarcoma

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Sources:
44Novoseek, 49PharmGKB, 59Tocris Bioscience, 11DrugBank, 28IUPHAR, 2BitterDB, 24HMDB
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Compounds related to Osteosarcoma according to GeneCards/GeneDecks:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
1tyrosine4412.7FOSB, TWIST1, BBS9, TNFRSF11A, FOS, MDM2
2cisplatin44 49 59 1115.2CHEK2, CDK4, TP53, SLC19A1, RB1, MDM2
3oligonucleotide4412.2FOLR1, CDK4, CHEK2, RB1, FOS, FOSB
4vegf4412.2FOS, RB1, BGLAP, MDM2, CDK4, CD99
5thymidylate4412.1FOS, TP53, SLC19A1, CDK4, RB1, MDM2
6doxorubicin44 49 1114.1MDM2, TP53, SLC19A1, CDK4, RB1, CHEK2
7phosphatidylinositol4412.1RB1, TNFRSF11A, FOS, MDM2, CHEK2, CDK4
8ly2940024411.9CDK4, EZR, RB1, MDM2, FOS, TP53
9genistein44 28 59 2 11 2416.9CHEK2, CDK4, EZR, MDM2, RB1, FOS
10serine4411.7CHEK2, FOS, FOSB, BGLAP, TNFRSF11A
11paclitaxel44 49 1113.7RB1, CDK4, TP53, MDM2, FOLR1
12paraffin4411.7CD99, CDK4, EZR, BGLAP, MDM2
13camptothecin44 59 1113.7MDM2, RB1, CHEK2, CDK4, TP53
14calcitriol44 59 11 2414.7BGLAP, TNFRSF11A, CDK4, RB1, FOS
15okadaic acid44 5912.7RB1, CHEK2, FOSB, FOS, CDK4
165fluorouracil4411.7RB1, CDK4, TP53, MDM2, SLC19A1
1712-o-tetradecanoylphorbol 13-acetate4411.7RB1, FOSB, EZR, CDK4, FOS
18calcium44 49 11 2414.7TNFRSF11A, EZR, CDK4, FOS, FOSB, BGLAP
19sb 20358044 5912.7BGLAP, RB1, FOS, CDK4, TP53
20dexamethasone44 49 28 1114.6BGLAP, MDM2, RB1, CDK4, FOS
21threonine4411.6CDK4, FOS, MDM2, RB1, CHEK2, EZR
22roscovitine4411.6RB1, TP53, CDK4, MDM2
23benzo(a)pyrene4411.6CDK4, TP53, RB1, MDM2
24flavopiridol44 1112.6TP53, MDM2, RB1, CDK4
25carboplatin44 49 1113.5CDK4, RB1, MDM2, TP53
26adpribose4411.5MDM2, RB1, CDK4, TP53
27mitomycin c4411.5RB1, BGLAP, TP53, MDM2
28sp 60012544 5912.5MDM2, TP53, CDK4, FOS
291,25 dihydroxy vitamin d34411.5CDK4, RB1, TNFRSF11A, BGLAP
30adriamycin4411.5MDM2, RB1, CHEK2, TP53
31curcumin4411.4MDM2, TP53, CDK4, FOS
325-aza-2deoxycytidine4411.4MDM2, SLC19A1, TP53, FOLR1
33tomudex4411.4SLC19A1, FOLR1, TP53
34alanine4411.4SLC19A1, BGLAP, EZR, CDK4, CHEK2, MDM2
35bpde4411.4CHEK2, TP53, MDM2
36olomoucine44 1112.4RB1, CDK4, TP53
37aflatoxin b144 2412.3TP53, MDM2, RB1
38thymidine44 2412.3RB1, FOS, MDM2, TP53, CDK4
39aphidicolin4411.3TP53, CHEK2, RB1
40dihydrofolate4411.2FOLR1, RB1, SLC19A1
41n-(4-hydroxyphenyl)retinamide4411.2CDK4, RB1, TP53
42methotrexate44 49 1113.2FOLR1, SLC19A1, RB1, MDM2
43fludarabine44 1112.2TP53, CDK4, MDM2
44vincristine44 49 1113.1RB1, SLC19A1
45n-hydroxysuccinimide4411.1FOLR1, SLC19A1
46hmba4411.0CDK4
47lometrexol4411.0SLC19A1, FOLR1
48somatropin recombinant49 1112.0TSPAN31, CDK4
49agar4410.8RB1, MDM2, FOS, CDK4
50trimetrexate44 1111.8FOLR1, SLC19A1

GO Terms for genes affiliated with Osteosarcoma

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16Gene Ontology
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Cellular components related to Osteosarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00565411.5TP53, FOS, CTDSP2, MDM2, RB1, CHEK2
2PML bodyGO:01660511.0TP53, CHEK2, RB1
3chromatinGO:00078510.7TP53, CDK4, RB1

Biological processes related to Osteosarcoma according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cellular response to hypoxiaGO:07145611.0TP53, TWIST1, MDM2
2response to gravityGO:00962911.0FOS, BGLAP
3folic acid transportGO:01588411.0SLC19A1, FOLR1
4folic acid metabolic processGO:04665510.9FOLR1, SLC19A1
5response to drugGO:04249310.8CDK4, MDM2, FOS, BGLAP
6replicative senescenceGO:09039910.8CHEK2, TP53
7regulation of protein catabolic processGO:04217610.8CHEK2, MDM2
8negative regulation of DNA damage response, signal transduction by p53 class mediatorGO:04351810.7MDM2, TWIST1

Molecular functions related to Osteosarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551512.5OS9, CTDSP2, FOS, TNFRSF11A, XRN1, BBS9
2transcription factor bindingGO:00813411.2TP53, TWIST1, RB1, FOS, FOSB
3folic acid bindingGO:00554210.8SLC19A1, FOLR1

Products for genes affiliated with Osteosarcoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Osteosarcoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet