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 methotrexate 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
See all sources

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, Ovary, T cells, Smooth muscle, Nk cells, Bone marrow, Heart, Cervix, Skin, Adrenal gland, Pancreas, Spinal cord, Small intestine, Brain, Lymph node, Uterus, Testes

Animal Models for Osteosarcoma or affiliated genes

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Sources:
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
MicroRNAs in osteosarcoma: diagnostic and therapeutic aspects. (23797816)
2013
2
Synchronous multifocal osteosarcoma with hypocalcemia. (23463848)
2013
3
Arsenic trioxide prevents osteosarcoma growth by inhibition of GLI transcription via DNA damage accumulation. (23861973)
2013
4
Osteosarcoma of the jaw: an analysis of a series of 74 cases. (23889216)
2013
5
Metastasis of femoral osteosarcoma to the abdominal wall detected on 99m Tc-MDP skeletal scintigraphy. (23456178)
2013
6
Overexpression of TTRAP inhibits cell growth and induces apoptosis in osteosarcoma cells. (23433115)
2013
7
A case study of personalized therapy for osteosarcoma. (23526721)
2013
8
Benzochloroporphyrin derivative induced cytotoxicity and inhibition of tumor recurrence during photodynamic therapy for osteosarcoma. (23803128)
2013
9
Up-regulated isocitrate dehydrogenase 1 suppresses proliferation, migration and invasion in osteosarcoma: In vitro and in vivo. (24368190)
2013
10
LPA-induced suppression of periostin in human osteosarcoma cells is mediated by the LPA(1)/Egr-1 axis. (22659570)
2012
11
Targeting GSTP1-1 induces JNK activation and leads to apoptosis in cisplatin-sensitive and -resistant human osteosarcoma cell lines. (22068640)
2012
12
Breast mass with intense 99mTc-diphosphonate uptake revealing primary breast osteosarcoma. (21383295)
2011
13
Chondroblastic osteosarcoma of the temporal region: a diagnostic dilemma. (20730902)
2011
14
Polycomb group molecule PHC3 regulates polycomb complex composition and prognosis of osteosarcoma. (20491773)
2010
15
Frequent attenuation of the WWOX tumor suppressor in osteosarcoma is associated with increased tumorigenicity and aberrant RUNX2 expression. (20530675)
2010
16
Synergistic antitumor effect of the activated PPARgamma and retinoid receptors on human osteosarcoma. (20371684)
2010
17
Ephrin A4 expression in osteosarcoma, impact on prognosis, and patient outcome. (20071790)
2010
18
Expression of hepatocyte growth factor and the proto-oncogenic receptor c-Met in canine osteosarcoma. (19429984)
2009
19
Insulin-like growth factor-I receptor tyrosine kinase inhibitor cyclolignan picropodophyllin inhibits proliferation and induces apoptosis in multidrug resistant osteosarcoma cell lines. (19638450)
2009
20
Chondroblastic osteosarcoma of the cuboid: a literature review and report of a rare case. (19423044)
2009
21
Silencing of calpain expression reduces the metastatic potential of human osteosarcoma cells. (19747555)
2009
22
Bone biology and physiology: implications for novel osteoblastic osteosarcoma treatments? (17683874)
2008
23
2-methoxyestradiol-induced cell death in osteosarcoma cells is preceded by cell cycle arrest. (18384113)
2008
24
Growth inhibition of osteosarcoma cell MG-63 by a mixture of trans,trans conjugated linoleic acid isomers: possible mechanistic actions. (18211379)
2008
25
Decorin-induced growth inhibition is overcome through protracted expression and activation of epidermal growth factor receptors in osteosarcoma cells. (18505923)
2008
26
The plant alkaloid voacamine induces apoptosis-independent autophagic cell death on both sensitive and multidrug resistant human osteosarcoma cells. (18838862)
2008
27
Inhibition of hypoxia-induced angiogenesis by trichostatin A via suppression of HIF-1a activity in human osteosarcoma. (17310851)
2006
28
Examination of the signal transduction pathways leading to activation of gelatinolytic activity by interleukin-1alpha and Porphyromonas gingivalis in human osteosarcoma cells. (15102045)
2004
29
c-Met tyrosine kinase receptor expression and function in human and canine osteosarcoma cells. (14524531)
2003
30
Isolation, identification and biological activity of 24R,25-dihydroxy-3-epi-vitamin D3: a novel metabolite of 24R,25-dihydroxyvitamin D3 produced in rat osteosarcoma cells (UMR 106). (11508700)
2001
31
Compactin and simvastatin, but not pravastatin, induce bone morphogenetic protein-2 in human osteosarcoma cells. (10814523)
2000
32
Expression of nm23 protein in human osteosarcoma in relationship with early metastasis. (11103961)
2000
33
Relationship between P-glycoprotein expression and p53 status in high-grade osteosarcoma. (9917506)
1999
34
A case of Werner's syndrome associated with osteosarcoma. (10554436)
1999
35
Multidrug resistance mediated by overexpression of P-glycoprotein in human osteosarcoma in vivo. (9458350)
1998
36
Li-Fraumeni syndrome in pediatric patients with soft tissue sarcoma or osteosarcoma. (9291635)
1997
37
Retroviral vector-mediated transfer of an antisense cyclin G1 construct inhibits osteosarcoma tumor growth in nude mice. (9322869)
1997
38
P53 gene abnormalities in osteosarcoma. (9275350)
1996
39
Influence of vitamin D and retinoids on the gammacarboxylation of osteocalcin in human osteosarcoma MG63 cells. (8968028)
1996
40
Transcriptional regulation of the SIS/PDGF-B gene in human osteosarcoma cells by the Sp family of transcription factors. (8662647)
1996
41
p53 antioncogene abnormal in osteosarcoma]. (7842979)
1994
42
Plasminogen activators and their inhibitor in osteosarcomas and other bone tumors. (7826985)
1994
43
Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE). (8401536)
1993
44
A TP53 mutation detected in cells established from an osteosarcoma, but not in the retinoblastoma of a patient with bilateral retinoblastoma and multiple primary osteosarcomas. (1336709)
1992
45
Induction of HLA class II antigens in osteosarcoma cells by interferons and tumor necrosis factor alpha. (1622136)
1992
46
A23187-induced translocation of 5-lipoxygenase in osteosarcoma cells. (1469057)
1992
47
Dexamethasone-treated ROS 17/2.8 rat osteosarcoma cells are responsive to human carboxylterminal parathyroid hormone peptide hPTH (53-84): stimulation of alkaline phosphatase. (1913291)
1991
48
Cyclic adenosine 3',5'-monophosphate (cAMP)-dependent and cAMP-independent regulation of parathyroid hormone receptors on UMR 106-01 osteoblastic osteosarcoma cells. (1718728)
1991
49
Platelet-derived growth factor-stimulated c-myc RNA accumulation in MG-63 human osteosarcoma cells is independent of both protein kinase A and protein kinase C. (1688464)
1990
50
Transforming growth factor-beta 1 inhibits lipoxygenase and epoxygenase eicosanoid production by osteosarcoma cells. (2088903)
1990

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

GO Terms for genes affiliated with Osteosarcoma

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16Gene Ontology
See all sources

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