MCID: OST028
MIFTS: 37

Osteochondroma malady

Bone diseases category

Summaries for Osteochondroma

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63Wikipedia, 32MalaCards
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Wikipedia:63 Osteochondroma is a type of benign tumor that consists of cartilage and bone. It is a benign... more...

MalaCards: Osteochondroma, also known as cartilaginous exostosis, is related to hereditary multiple osteochondromas and hereditary multiple exostoses. An important gene associated with Osteochondroma is EXT2 (exostosin glycosyltransferase 2), and among its related pathways are CREB Pathway and TGF-Beta Pathway. The compounds forskolin and fiin 1 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and homeostasis/metabolism.

Aliases & Classifications for Osteochondroma

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42NIH Rare Diseases, 44Novoseek, 60UMLS
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Classifications:

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


Aliases & Descriptions:

osteochondroma 42 44
cartilaginous exostosis 60


Related Diseases for Osteochondroma

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17GeneCards, 18GeneDecks
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Diseases related to Osteochondroma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary multiple osteochondromas31.0EXT2, EXT1
2hereditary multiple exostoses30.7POMGNT2, EXT2, EXT1
3exostosis30.6EXT1, EXT2
4chondrosarcoma30.6PTHLH, BMP2, E2F1, EXT2, EXT1, FGF2
5osteosarcoma30.5PTHLH, E2F1, TGFB2, FGF2, DUSP19, BMP2
6fibrodysplasia ossificans progressiva30.1ACVR1, BMP2
7meningioma30.0POMGNT2
8muenke syndrome30.0FGFR1, FGFR3
9sarcoma30.0EXT1, NES, EXT2, E2F1, BMP2
10ankylosis29.8BMP2
11synostosis29.8FGFR1, FGFR3
12adenocarcinoma29.7PTHLH, BMP2, E2F1, TGFB2, NES, FGFR1
13cervicitis10.6
14chondroma10.2
15calcium metabolism disease10.2
16bursitis10.2
17metachondromatosis10.2
18vertebral artery occlusion10.1
19pseudoarthrosis10.0
20osteoblastoma10.0
21quadriplegia10.0
22brown-sequard syndrome10.0
23periostitis10.0
24carpotarsal osteochondromatosis10.0
25multiple myeloma10.0FGFR3
26thanatophoric dysplasia10.0FGFR3
27hyperparathyroidism10.0PTHLH
28leiomyoma10.0NES
29down syndrome10.0FGFR3
30primary pulmonary hypertension10.0BMP2
31hydrocephalus10.0NES
32ladd syndrome10.0FGFR3
33osteoglophonic dysplasia10.0FGFR1
34cervical cancer10.0DUSP19, FGFR3
35autosomal dominant disease10.0EXT2, EXT1
36achondroplasia10.0FGF9, FGFR3
37hypercalcemia10.0PTHLH
38prolactinoma10.0E2F1, PTHLH
39hypochondroplasia10.0FGFR1, FGFR3
40myelofibrosis10.0FGF2
41ollier disease10.0EXT1, PTHLH, EXT2
42osteochondrodysplasia10.0FGFR3, PTHLH
43fgfr-related craniosynostosis syndromes10.0FGFR3, FGFR1
44jackson-weiss syndrome10.0FGFR3, FGFR1
45short stature10.0FGFR3, PTPN11
46congenital heart defect10.0PTPN11
47seborrheic keratosis10.0TGFB2, FGFR3
48teratoma10.0FGFR1, NES
49pheochromocytoma10.0DUSP19, POMGNT2
50ovarian cancer10.0BMP2, E2F1, TGFB2

Graphical network of the top 20 diseases related to Osteochondroma:



Diseases related to osteochondroma

Clinical Features for Osteochondroma

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Drugs & Therapeutics for Osteochondroma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Osteochondroma

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Genetic Tests for Osteochondroma

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Anatomical Context for Osteochondroma

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32MalaCards
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MalaCards organs/tissues related to Osteochondroma:

32
Bone

Animal Models for Osteochondroma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Osteochondroma:

36 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.3EXT1, BMPR1B, FGF9, PTPN11
2MP:00053769.2PTPN11, ACVR1, FGF9, FGFR3
3MP:00107719.0E2F1, FGFR1, FGF9
4MP:00053799.0PTPN11, FGFR1, E2F1
5MP:00053809.0BMPR1B, BMP2, NES, ACVR1, TGFB2
6MP:00036318.3E2F1, BMPR1B, BMP2, ACVR1, PTPN11
7MP:00053778.2EXT1, E2F1, BMP2, FGFR3, FGF9, ACVR1
8MP:00053908.1TGFB2, EXT2, BMP2, FGFR1, FGFR3, FGF9
9MP:00020068.1EXT1, E2F1, FGFR3, FGF2, ACVR1, PTPN11
10MP:00053887.9E2F1, FGFR3, FGF9, PTPN11, PTHLH, TGFB2
11MP:00053897.9E2F1, BMPR1B, BMP2, FGFR3, FGF9, PTPN11
12MP:00028737.8EXT1, E2F1, BMP2, FGFR1, FGFR3, FGF9
13MP:00053697.6E2F1, FGFR1, FGF9, FGF2, ACVR1, PTPN11
14MP:00053827.6EXT1, BMPR1B, BMP2, FGFR1, FGFR3, FGF9
15MP:00053867.3EXT1, E2F1, NES, FGFR1, FGFR3, FGF9
16MP:00053817.3FGFR1, BMP2, E2F1, EXT1, FGFR3, FGF9
17MP:00053857.2E2F1, BMP2, FGFR1, FGF9, FGF2, ACVR1
18MP:00053916.9EXT1, E2F1, BMPR1B, FGFR1, FGFR3, FGF9
19MP:00053786.3EXT1, E2F1, BMPR1B, BMP2, NES, FGFR1
20MP:00053845.9NES, BMP2, BMPR1B, E2F1, EXT1, FGFR1
21MP:00107685.7NES, BMP2, BMPR1B, E2F1, EXT2, EXT1

Publications for Osteochondroma

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Genetic Variations for Osteochondroma

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Expression for genes affiliated with Osteochondroma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteochondroma

Search GEO for disease gene expression data for Osteochondroma.

Pathways for genes affiliated with Osteochondroma

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Sources:
51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 53Reactome, 49PharmGKB, 4Cell Signaling Technology, 12EMD Millipore, 52R&D Systems, 55SinoBiological, 59Tocris Bioscience
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Pathways related to Osteochondroma according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.2FGFR3
2
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9.9FGF9, BMP2
3
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9.8FGF9, FGFR1
49.7BMP2, BMPR1B
59.7BMP2, BMPR1B
6
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9.6BMP2, FGFR1, FGFR3
7
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9.6PTPN11, FGF2
8
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9.6FGF9, FGFR3, FGFR1
99.4FGF2, FGFR3, FGFR1
109.4FGF2, FGFR3, FGFR1
119.4FGF2, FGFR3, FGFR1
129.4TGFB2, FGF2, FGFR1
13
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9.2BMP2, FGFR1, FGFR3, FGF2
149.2TGFB2, FGF2, FGFR3, FGFR1
15
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9.1FGFR1, FGFR3, FGF9, FGF2
16
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9.1FGFR1, FGFR3, FGF9, FGF2
17
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9.1FGFR1, FGFR3, FGF9, FGF2
18
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9.1FGFR1, FGFR3, FGF9, FGF2
199.1FGFR1, FGFR3, FGF9, FGF2
209.1E2F1, FGFR1, FGFR3
219.0TGFB2, ACVR1, BMP2, BMPR1B
229.0BMPR1B, BMP2, ACVR1, TGFB2
23
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9.0BMPR1B, FGFR1, FGFR3, ACVR1
24
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9.0E2F1, PTPN11, TGFB2
258.9FGFR1, FGFR3, FGF2, PTHLH, TGFB2
26
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8.9BMP2, FGFR1, FGFR3, FGF2, TGFB2
27
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8.9BMP2, FGFR1, FGFR3, FGF2, TGFB2
28
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8.9BMP2, FGFR1, FGFR3, FGF2, TGFB2
29
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8.7BMPR1B, BMP2, FGFR1, FGFR3, ACVR1
308.7FGFR1, FGFR3, FGF9, FGF2, PTPN11
31
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8.7FGFR1, FGFR3, FGF9, FGF2, PTPN11
32
Development FGF-family signaling
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8.7PTPN11, FGF2, FGF9, FGFR3, FGFR1
33
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8.7FGFR1, FGFR3, FGF9, FGF2, PTPN11
34
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8.7FGFR1, FGFR3, FGF9, FGF2, PTPN11
35
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8.7FGFR1, FGFR3, FGF9, FGF2, PTPN11
36
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8.7FGFR1, FGFR3, FGF9, FGF2, PTPN11
378.7FGFR1, FGF9, FGF2, PTPN11, TGFB2
388.4E2F1, BMP2, FGFR3, FGF9, FGF2
39
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8.3FGF2, FGF9, FGFR3, FGFR1, E2F1
40
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8.0E2F1, BMP2, FGFR1, FGFR3, FGF9, FGF2
41
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8.0BMPR1B, BMP2, FGFR1, FGFR3, FGF2, ACVR1
42
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7.8TGFB2, ACVR1, FGF2, BMP2, BMPR1B, E2F1
43
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7.7BMPR1B, BMP2, FGFR1, FGFR3, FGF9, FGF2
44
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7.6BMPR1B, BMP2, FGFR1, FGFR3, FGF2, ACVR1
45
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7.2E2F1, BMPR1B, BMP2, FGFR1, FGFR3, FGF2

Compounds for genes affiliated with Osteochondroma

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

(show top 50)    (show all 66)
idCompoundScoreTop Affiliating Genes
1forskolin44 49 1112.5PTPN11
2fiin 1 hydrochloride5910.2FGFR1, FGFR3
3pd 1615705910.2FGFR3, FGFR1
4su 54025910.2FGFR1, FGFR3
5palifermin44 1111.1FGFR3, FGFR1
6su6668449.9FGF2, FGFR1
7su5402449.9FGFR1, FGF2, FGFR3
8pd 17307444 5910.9FGFR1, FGFR3, FGF2
9glucose449.7TGFB2, FGFR1, PTHLH
10chlorate449.7FGF2, FGFR1
11glycosaminoglycan449.6EXT1, BMP2, TGFB2, FGF2
12heparin44 28 11 2412.6POMGNT2, FGF9, BMP2, EXT1
13dihydrotestosterone44 28 11 2412.6TGFB2, PTHLH, FGF2, BMP2
14ribonucleic acid449.5TGFB2, FGFR1, BMP2, PTHLH
15calcitriol44 59 11 2412.5FGF2, TGFB2, PTHLH, BMP2
16paclitaxel44 49 1111.4DUSP19, E2F1
17sodium chlorate449.4FGFR1, FGF2
18dexamethasone44 49 28 1112.3DUSP19, TGFB2, BMP2, FGF2
19paraffin449.2TGFB2, PTHLH, NES, FGFR3, FGF2
20nicotine44 49 28 1112.2FGF2, DUSP19, BMP2, PTHLH
21arginine449.2PTHLH, EXT1, EXT2, BMP2, FGFR3, PTPN11
22sb 20358044 5910.1PTPN11, FGF2, FGFR1, BMP2
23chondroitin sulfate44 2410.1FGFR1, POMGNT2, FGF2
24phosphotyrosine449.0DUSP19, FGFR3, PTPN11, FGFR1
25matrigel449.0PTHLH, FGF9, TGFB2, FGF2, NES, BMP2
26tetracycline44 119.9E2F1, BMP2, PTPN11, FGF2
27dopamine44 28 11 2411.9TGFB2, FGFR1, DUSP19, NES, BMP2
28genistein44 28 59 2 11 2413.8BMP2, TGFB2, FGFR1, FGF2, DUSP19
29tgf beta1448.8TGFB2, BMP2, E2F1, FGF2, PTHLH
30polysaccharide448.6FGFR1, POMGNT2, FGF2, DUSP19, BMP2
31heparan sulfate44 249.6FGFR1, PTHLH, POMGNT2, FGF2, BMP2, EXT2
32progesterone44 59 28 11 2412.5PTHLH, E2F1, NES, FGFR1, BMP2, TGFB2
33lysine448.5FGFR3, E2F1, PTHLH, FGFR1, PTPN11, BMP2
34testosterone44 59 11 2411.5E2F1, TGFB2, PTHLH, FGFR1, BMP2
35ascorbic acid44 249.4BMP2, E2F1, DUSP19, FGF2, TGFB2
36agar448.3E2F1, PTPN11, FGFR1, FGF2, TGFB2, PTHLH
37rapamycin448.2BMP2, DUSP19, POMGNT2, PTPN11, E2F1
38nitric oxide44 11 2410.2E2F1, FGFR1, PTPN11, PTHLH, BMP2, TGFB2
39oligonucleotide448.1BMP2, TGFB2, ACVR1, FGFR1, E2F1, PTPN11
40cysteine448.1BMP2, DUSP19, PTPN11, FGFR3, FGFR1, POMGNT2
41thymidine44 249.1FGF2, PTPN11, PTHLH, TGFB2, FGFR1, BMP2
42bromodeoxyuridine448.0PTHLH, TGFB2, PTPN11, FGF2, FGFR1, NES
43threonine447.9PTPN11, FGFR3, FGFR1, ACVR1, PTHLH, DUSP19
44calcium44 49 11 2410.7PTHLH, BMP2, TGFB2, DUSP19, FGFR1, FGFR3
45phosphatidylinositol447.7TGFB2, E2F1, FGF2, PTPN11, DUSP19, PTHLH
46lipid447.6PTPN11, FGFR3, FGFR1, E2F1, BMP2, PTHLH
47vegf447.2FGFR3, E2F1, BMP2, NES, FGFR1, FGF9
48retinoic acid44 248.0POMGNT2, E2F1, FGFR1, FGF2, PTHLH, DUSP19
49tyrosine446.1FGFR3, FGF2, PTPN11, PTHLH, FGFR1, E2F1
50serine445.8ACVR1, E2F1, FGFR3, PTPN11, PTHLH, TGFB2

GO Terms for genes affiliated with Osteochondroma

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.9TGFB2, PTHLH, FGF2, FGF9, BMP2
2extracellular regionGO:0055768.0TGFB2, BMP2, FGFR1, FGFR3, FGF9, FGF2

Biological processes related to Osteochondroma according to GeneCards/GeneDecks:

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1cellular polysaccharide biosynthetic processGO:03369210.4EXT1, EXT2
2heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:01501410.4EXT1, EXT2
3positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.2FGFR1, FGFR3
4positive regulation of phospholipase activityGO:01051810.2FGFR1, FGFR3
5positive regulation of ossificationGO:04577810.2TGFB2, BMP2
6mesenchymal cell differentiationGO:04876210.2BMP2, FGFR1
7substantia nigra developmentGO:02176210.2FGFR3, FGF2
8cardiac epithelial to mesenchymal transitionGO:06031710.2TGFB2, BMP2
9heparan sulfate proteoglycan biosynthetic processGO:01501210.1EXT2, EXT1
10corticotropin hormone secreting cell differentiationGO:06012810.1BMP2, FGF2
11thyroid-stimulating hormone-secreting cell differentiationGO:06012910.1FGF2, BMP2
12lung-associated mesenchyme developmentGO:06048410.1FGF9, FGFR1
13positive regulation of phospholipase C activityGO:01086310.0FGFR1, FGF2
14pathway-restricted SMAD protein phosphorylationGO:06038910.0BMP2, ACVR1, TGFB2
15embryonic digestive tract developmentGO:0485669.9TGFB2, FGF9
16positive regulation of endothelial cell proliferationGO:0019389.9BMP2, FGFR3, FGF2
17organ inductionGO:0017599.8FGF2, FGFR1
18positive regulation of cell divisionGO:0517819.8TGFB2, FGF2, FGF9
19positive regulation of cardiac muscle cell proliferationGO:0600459.8FGFR1, FGF9, FGF2
20chondrocyte differentiationGO:0020629.8FGF9, FGFR3, FGFR1, BMP2
21positive regulation of ERK1 and ERK2 cascadeGO:0703749.7FGF2, FGFR3, BMP2
22positive regulation of bone mineralizationGO:0305019.7ACVR1, BMP2, BMPR1B
23cell-cell signalingGO:0072679.7TGFB2, PTHLH, FGF9, BMP2
24BMP signaling pathwayGO:0305099.6ACVR1, BMP2, BMPR1B
25eye developmentGO:0016549.6BMPR1B, TGFB2
26activation of MAPK activityGO:0001879.6BMP2, FGF2, PTPN11
27heart developmentGO:0075079.5TGFB2, PTPN11, BMP2
28axon guidanceGO:0074119.4EXT1, FGFR1, PTPN11, TGFB2
29cartilage condensationGO:0015029.4TGFB2, BMPR1B
30negative regulation of cell proliferationGO:0082859.3BMP2, FGF2, PTHLH, TGFB2
31positive regulation of osteoblast differentiationGO:0456699.3ACVR1, FGF2, BMP2, BMPR1B
32positive regulation of gene expressionGO:0106289.2E2F1, BMP2, FGF9, TGFB2
33phosphatidylinositol-mediated signalingGO:0480159.1FGFR1, FGFR3, FGF9, FGF2, PTPN11
34insulin receptor signaling pathwayGO:0082869.1PTPN11, FGF2, FGF9, FGFR3, FGFR1
35fibroblast growth factor receptor signaling pathwayGO:0085439.1FGFR1, FGFR3, FGF9, FGF2, PTPN11
36Fc-epsilon receptor signaling pathwayGO:0380959.1FGFR1, FGFR3, FGF9, FGF2, PTPN11
37epidermal growth factor receptor signaling pathwayGO:0071739.1PTPN11, FGF2, FGF9, FGFR3, FGFR1
38positive regulation of MAPK cascadeGO:0434109.1BMP2, DUSP19, FGFR1, FGFR3, FGF9
39neurotrophin TRK receptor signaling pathwayGO:0480119.1PTPN11, FGF2, FGF9, FGFR3, FGFR1
40protein phosphorylationGO:0064689.1TGFB2, ACVR1, FGFR1, BMP2, BMPR1B
41skeletal system developmentGO:0015019.1PTHLH, FGFR3, FGFR1, BMP2, BMPR1B, EXT1
42innate immune responseGO:0450879.0FGFR1, FGFR3, FGF9, FGF2, PTPN11
43positive regulation of cell proliferationGO:0082849.0TGFB2, PTHLH, FGF2, FGF9, FGFR3, FGFR1

Molecular functions related to Osteochondroma according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:05050910.3EXT1, EXT2
2heparan sulfate N-acetylglucosaminyltransferase activityGO:04232810.3EXT1, EXT2
3glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:05050810.2EXT1, EXT2
4fibroblast growth factor-activated receptor activityGO:00500710.0FGFR3, FGFR1
5transferase activity, transferring glycosyl groupsGO:01675710.0EXT2, EXT1
6peptide hormone receptor bindingGO:0514289.8PTPN11, PTHLH
7acetylglucosaminyltransferase activityGO:0083759.8EXT1, EXT2, POMGNT2
8transforming growth factor beta receptor activity, type IGO:0050259.8BMPR1B, ACVR1
9fibroblast growth factor bindingGO:0171349.7FGF2, FGFR3, FGFR1
10transmembrane receptor protein serine/threonine kinase activityGO:0046759.7ACVR1, BMPR1B
11receptor signaling protein serine/threonine kinase activityGO:0047029.6TGFB2, ACVR1, BMPR1B
12SMAD bindingGO:0463329.6ACVR1, BMP2, BMPR1B
13protein heterodimerization activityGO:0469829.4TGFB2, BMP2, EXT2, EXT1
14growth factor activityGO:0080839.4TGFB2, FGF2, FGF9, BMP2
15protein homodimerization activityGO:0428039.1EXT1, EXT2, FGFR1, ACVR1, TGFB2
16heparin bindingGO:0082019.1FGFR1, FGF9, FGF2

Products for genes affiliated with Osteochondroma

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  • Antibodies
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  • Lysates
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Sources for Osteochondroma

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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