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MCID: TNS001
MIFTS: 40

Tenosynovial Giant Cell Tumor

Categories: Bone diseases, Cancer diseases, Muscle diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Tenosynovial Giant Cell Tumor

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MalaCards integrated aliases for Tenosynovial Giant Cell Tumor:

Name: Tenosynovial Giant Cell Tumor 12 15 17
Fibrous Histiocytoma of Tendon Sheath 12 71
Giant Cell Tumour of Tendon Sheath 12
Giant Cell Tumor of Tendon Sheath 12
Giant Cell Tumour of Tenosynovium 12
Giant Cell Tumor of Tenosynovium 12
Tenosynovial Giant Cell Tumour 12

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Bone diseases Muscle diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:314
ICD9CM 34 727.02
MeSH 44 D000070779
NCIt 50 C3402
SNOMED-CT 67 310605004
UMLS 71 C1318543
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Summaries for Tenosynovial Giant Cell Tumor

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MalaCards based summary : Tenosynovial Giant Cell Tumor, also known as fibrous histiocytoma of tendon sheath, is related to pigmented villonodular synovitis and malignant giant cell tumor of the tendon sheath. An important gene associated with Tenosynovial Giant Cell Tumor is CSF1 (Colony Stimulating Factor 1), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Sargramostim and Grapefruit Seed Extract have been mentioned in the context of this disorder. Affiliated tissues include bone and thyroid, and related phenotypes are cellular and hematopoietic system

Wikipedia : 74 Tenosynovial giant cell tumor (TGCT) is a group of rare, typically non-malignant tumors of the joints.... more...

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Related Diseases for Tenosynovial Giant Cell Tumor

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Diseases related to Tenosynovial Giant Cell Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 256)
# Related Disease Score Top Affiliating Genes
1 pigmented villonodular synovitis 32.9 SERPINA3 CSF1R CSF1 CD68
2 malignant giant cell tumor of the tendon sheath 32.4 CSF1R CSF1 COL6A3 CD68
3 villonodular synovitis 31.9 CSF1 CD68
4 benign giant cell tumor 31.6 SERPINA3 CSF1R CSF1
5 pleomorphic lipoma 30.6 SERPINA3 CD68 CD34
6 multicentric reticulohistiocytosis 30.6 SERPINA3 CSF1 CD68
7 giant cell reparative granuloma 30.6 USP6 SERPINA3 CD68
8 lipomatosis, multiple 30.5 SERPINA3 KIT CD34
9 bone giant cell tumor 30.5 USP6 SERPINA3 CSF1 CD68
10 desmoid tumor 30.3 PDGFRB KIT CDKN2A
11 spindle cell sarcoma 30.2 SERPINA3 KIT CD34
12 glomus tumor 30.2 KIT CDKN2B CDKN2A CD34
13 fibroma 30.1 USP6 SERPINA3 CD68 CD34
14 sarcoma, synovial 30.1 SERPINA3 KIT CD34
15 pseudosarcomatous fibromatosis 29.7 USP6 SERPINA3 KIT CD68 CD34
16 fibrous histiocytoma 29.7 SERPINA3 KIT CD68 CD34 CD163
17 nodular tenosynovitis 29.7 SERPINA3 CSF1 COL6A3 CLU CD68 CD163
18 plica syndrome 10.9
19 synovitis 10.9
20 malignant giant cell tumor 10.5
21 hemosiderosis 10.4
22 bone giant cell sarcoma 10.4 CSF1 CD163
23 congenital epulis 10.3 SERPINA3 CD68
24 epulis 10.3 SERPINA3 CD68
25 verruciform xanthoma of skin 10.3 SERPINA3 CD68
26 chondrosarcoma 10.3
27 chondroblastoma 10.3
28 rare soft tissue tumor 10.3
29 thyroid carcinoma 10.3
30 lymphohistiocytoid mesothelioma 10.3 CDKN2A CD68
31 malignant inflammatory fibrous histiocytoma 10.3 SERPINA3 CD68
32 xanthogranulomatous pyelonephritis 10.3 SERPINA3 CD68
33 thyroid lymphoma 10.3 CDKN2B CDKN2A
34 cervical adenoid cystic carcinoma 10.3 KIT CDKN2A
35 malignant granular cell myoblastoma 10.3 SERPINA3 CD68
36 laryngeal small cell carcinoma 10.3 KIT CDKN2A
37 maxillary sinus benign neoplasm 10.3 KIT CDKN2A
38 liver sarcoma 10.3 SERPINA3 CD68
39 primary cutaneous b-cell lymphoma 10.3 CDKN2B CDKN2A
40 xanthogranulomatous cholecystitis 10.3 SERPINA3 CD68
41 cutaneous solitary mastocytoma 10.3 SERPINA3 KIT
42 type c thymoma 10.3 SERPINA3 KIT
43 axillary lipoma 10.3 KIT CD68
44 balloon cell malignant melanoma 10.3 CD68 CD163
45 langerhans cell sarcoma 10.3 CD68 CD163
46 necrobiosis lipoidica 10.3 CD68 CD163
47 small intestinal sarcoma 10.3 KIT CD68
48 esophageal tuberculosis 10.3 CD68 CD163
49 melanoma-astrocytoma syndrome 10.3 CDKN2B CDKN2A
50 male reproductive organ benign neoplasm 10.3 SERPINA3 CDKN2A

Graphical network of the top 20 diseases related to Tenosynovial Giant Cell Tumor:



Diseases related to Tenosynovial Giant Cell Tumor
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Symptoms & Phenotypes for Tenosynovial Giant Cell Tumor

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MGI Mouse Phenotypes related to Tenosynovial Giant Cell Tumor:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.14 CCR2 CD163 CD34 CDKN2A CDKN2B COL6A3
2 hematopoietic system MP:0005397 10.11 CCR2 CD163 CD34 CD68 CDKN2A CDKN2B
3 homeostasis/metabolism MP:0005376 10.1 CCR2 CD163 CD34 CDKN2A CDKN2B CLU
4 immune system MP:0005387 10.03 CCR2 CD163 CD34 CD68 CDKN2A CDKN2B
5 integument MP:0010771 9.76 CD34 CDKN2A CDKN2B CSF1 CSF1R KIT
6 muscle MP:0005369 9.5 CD163 CDKN2A CLU COL6A3 CSF1 KIT
7 no phenotypic analysis MP:0003012 9.23 CCR2 CD68 CDKN2A CDKN2B CSF1 CSF1R
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Drugs & Therapeutics for Tenosynovial Giant Cell Tumor

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Drugs for Tenosynovial Giant Cell Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
2 Grapefruit Seed Extract Phase 2
3 Paraproteins Phase 2
4 Immunoglobulins Phase 2
5 Immunoglobulins, Intravenous Phase 2
6 Antibodies Phase 2
7 Myeloma Proteins Phase 2
8 Antibodies, Monoclonal Phase 2

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Phase 4, Multicenter Study to Evaluate Discontinuation and Re-Treatment in Subjects With Tenosynovial Giant Cell Tumor (TGCT) Previously Treated With Pexidartinib Recruiting NCT04526704 Phase 4 Pexidartinib
2 Multicenter, Single Arm Study of the Efficacy and Safety of Pexidartinib in Adult Subjects With Tenosynovial Giant Cell Tumor Recruiting NCT04488822 Phase 3 Pexidartinib
3 A Double-blind, Randomized, Placebo-controlled Phase 3 Study of Orally Administered PLX3397 in Subjects With Pigmented Villonodular Synovitis or Giant Cell Tumor of the Tendon Sheath Active, not recruiting NCT02371369 Phase 3 Pexidartinib;Placebo
4 Phase II Study of Nilotinib Efficacy in Pigmented Villo-Nodular Synovitis/ Tenosynovial Giant Cell Tumour (PVNS/TGCT) Completed NCT01261429 Phase 2 Tasigna
5 A Phase 1/2 Study of Cabiralizumab, an Anti-CSF1 Receptor Antibody, in Patients With Pigmented Villonodular Synovitis (PVNS)/ Diffuse Type Tenosynovial Giant Cell Tumor (Dt-TGCT) Completed NCT02471716 Phase 1, Phase 2
6 A Phase II Randomized, Double -Blind, Placebo Controlled Study to Assess Safety, Tolerability and Effect on Tumor Size of MCS110 in Patients With Pigmented Villonodular Synovitis (PVNS) Completed NCT01643850 Phase 2 MCS110;Placebo
7 A Multicenter Phase 1/2, Open-Label Study of DCC-3014 to Assess the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics in Patients With Advanced Tumors and Tenosynovial Giant Cell Tumor Recruiting NCT03069469 Phase 1, Phase 2 DCC-3014
8 A Multi-Center Single Agent Phase II Study of the Efficacy of Nilotinib in Patients With Relapsed or Metastatic Pigmented Villonodular Synovitis/Tenosynovial Giant Cell Tumor/Diffuse-Type Giant Cell Tumor Active, not recruiting NCT01207492 Phase 2 nilotinib
9 An Adaptive, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Intra-articular AMB-05X Injections in Subjects With Tenosynovial Giant Cell Tumor of the Knee Not yet recruiting NCT04731675 Phase 2
10 A Phase 2, Multicenter, Two-Part, Open-Label Study of Pexidartinib in Adult Subjects With Tenosynovial Giant Cell Tumor in Japan Not yet recruiting NCT04703322 Phase 2 Pexidartinib
11 A Phase 1 Study to Assess Safety, Pharmacokinetics, and Pharmacodynamics of PLX73086 as a Single Agent in Subjects With Advanced Solid Tumors and in Subjects With Locally Advanced or Refractory Tenosynovial Giant Cell Tumor (TGCT) Terminated NCT02673736 Phase 1 PLX73086
12 A Phase 1 Study to Assess Safety, Pharmacokinetics, and Pharmacodynamics of PLX7486 as a Single Agent in Patients With Advanced Solid Tumors Terminated NCT01804530 Phase 1 PLX7486 TsOH
13 A Long-term Study to Further Evaluate the Risk of Hepatotoxicity Associated With TURALIO™ (Pexidartinib) Treatment Recruiting NCT04635111 TURALIO™
14 A Disease Registry for Patients With Tenosynovial Giant Cell Tumors (TGCT), Also Known as Pigmented Villonodular Synovitis (PVNS) and Giant Cell Tumor of the Tendon Sheath (GCT-TS) Active, not recruiting NCT02948088

Search NIH Clinical Center for Tenosynovial Giant Cell Tumor

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Genetic Tests for Tenosynovial Giant Cell Tumor

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Anatomical Context for Tenosynovial Giant Cell Tumor

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MalaCards organs/tissues related to Tenosynovial Giant Cell Tumor:

40
Bone, Thyroid
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Publications for Tenosynovial Giant Cell Tumor

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Articles related to Tenosynovial Giant Cell Tumor:

(show top 50) (show all 223)
# Title Authors PMID Year
1
Magnetic resonance imaging features of intra-articular tenosynovial giant cell tumor in children. 61
33156428 2021
2
Evaluation of Potential Drug-Drug Interaction Risk of Pexidartinib With Substrates of Cytochrome P450 and P-Glycoprotein. 61
32918831 2021
3
A qualitative evaluation of patient and healthcare provider knowledge, attitudes, and behavior for safety and use of pexidartinib. 61
33474977 2021
4
Tenosynovial Giant Cell Tumor of the Retropharynx: A Case Report With Literature Review. 61
33048582 2021
5
Tenosynovial giant cell tumor of the upper cervical spine arising from the posterior atlanto-occipital membrane: a case report. 61
32767059 2021
6
MRI evaluation of solid soft tissue masses of the fingers with pathology correlation. 61
33341071 2021
7
Establishment and characterization of a novel cell line, NCC-TGCT1-C1, derived from a patient with tenosynovial giant cell tumor. 61
32886306 2021
8
Differential Diagnosis of Facet Joint Disorders. 61
33481690 2021
9
Soft tissue masses: distribution of entities and rate of malignancy in small lesions. 61
33482754 2021
10
Spinal pigmented villonodular synovitis and tenosynovial giant cell tumor: A report of two cases and a comprehensive systematic review. 61
33596487 2021
11
MR imaging findings for differentiating nonhemophilic hemosiderotic synovitis from diffuse-type tenosynovial giant cell tumor of the knee. 61
32860160 2021
12
Limited usefulness of classic MR findings in the diagnosis of tenosynovial giant cell tumor. 61
33410963 2021
13
The Economic Burden of Tenosynovial Giant Cell Tumors Among Employed Workforce in the United States. 61
33560066 2021
14
Endoscopic resection of a localized tenosynovial giant cell tumor causing posterior ankle impingement in a 15-year-old athlete: A case report. 61
33463443 2021
15
Diffuse-type tenosynovial giant cell tumor of the temporomandibular joint with skull base invasion: a report of 22 cases with literature review. 61
32981877 2021
16
Tenosynovial Giant Cell Tumor of the Cervical Spine: Case Report and Review of the Literature. 61
33505809 2020
17
Pediatric PK/PD Phase I Trial of Pexidartinib in Relapsed and Refractory Leukemias and Solid Tumors Including Neurofibromatosis Type I-Related Plexiform Neurofibromas. 61
32943455 2020
18
Long-term outcomes of pexidartinib in tenosynovial giant cell tumors. 61
33197285 2020
19
Fibroma of tendon sheath of the hand in a 3-year-old boy: a case report. 61
33172434 2020
20
Prospects of Treating Tenosynovial Giant Cell Tumor through Pexidar-tinib: A Review. 61
33143617 2020
21
Management of Tenosynovial Giant Cell Tumor: A Neoplastic and Inflammatory Disease. 61
33156160 2020
22
Incomplete resection increases the risk of local recurrence and negatively affects functional outcome in patients with tenosynovial giant cell tumor of the hindfoot. 61
31839476 2020
23
Giant cell tumor of tendon sheath at the hand: A case report and literature review. 61
32983435 2020
24
Population Pharmacokinetic Analysis of Pexidartinib in Healthy Subjects and Patients With Tenosynovial Giant Cell Tumor or Other Solid Tumors. 61
33043474 2020
25
Pexidartinib: first approved systemic therapy for patients with tenosynovial giant cell tumor. 61
32700568 2020
26
PK/PD Mediated Dose Optimization of Emactuzumab, a CSF1R Inhibitor, in Patients With Advanced Solid Tumors and Diffuse-Type Tenosynovial Giant Cell Tumor. 61
32575160 2020
27
Tenosynovial Giant Cell Tumor in an Infant. 61
32472881 2020
28
Pexidartinib (TURALIO™): The First FDA-Indicated Systemic Treatment for Tenosynovial Giant Cell Tumor. 61
32617868 2020
29
Optimal Treatment for Tenosynovial Giant Cell Tumor of the Hand. 61
32350187 2020
30
ENLIVEN study: Pexidartinib for tenosynovial giant cell tumor (TGCT). 61
32755241 2020
31
Intraarticular Nodular Fasciitis of the Knee With MHY9-USP6 Fusion: A Case Report. 61
32089028 2020
32
Concomitant Spondyloarthritis and Tenosynovial Giant Cell Tumor in Pigmented Villonodular Synovitis Challenging Cases. 61
30601200 2020
33
Uncommon tumors of temporomandibular joint: An institutional experience and review. 61
32040228 2020
34
Tenosynovial giant cell tumor of the suboccipital region - A rare, benign neoplasm in this location. 61
32631721 2020
35
Tenosynovial giant cell tumor in the foot and ankle. 61
31526689 2020
36
Unusual Occurrence of Tenosynovial Giant Cell Tumor in Hoffa's Fat Pad: A Potential Differential Diagnosis for Nontraumatic Knee Swelling and Pain. 61
32775088 2020
37
Pexidartinib for the treatment of adult patients with symptomatic tenosynovial giant cell tumor: safety and efficacy. 61
32297819 2020
38
[Imminent fracture of the tibia due to an osteolytic lesion caused by an intraosseous tenosynovial giant cell tumor : An unusual clinico-histopathological constellation]. 61
32588099 2020
39
Tenosynovial Giant Cell Tumor in the Hand: Experience with 173 Cases. 61
32312203 2020
40
Tenosynovial Giant Cell Tumor, Localized Type With Extensive Chondroid Metaplasia: A Case Report With Immunohistochemical and Molecular Genetic Analysis. 61
31771368 2020
41
Pexidartinib for the treatment of adult symptomatic patients with tenosynovial giant cell tumors. 61
32478598 2020
42
Management of Pigmented Villonodular Synovitis (PVNS): an Orthopedic Surgeon's Perspective. 61
32494892 2020
43
Shoulder Tumor/Tumor-Like Lesions: What to Look for. 61
32241665 2020
44
A Pregnant Woman with Multi-Fragmented Giant Cell Tumor of Tendon Sheath: A Rare Anatomical Location. 61
31486673 2020
45
Tenosynovial giant cell tumor mimicking an ankle monoarthritis. 61
32384050 2020
46
Pediatric Tenosynovial Giant Cell Tumor of the Flexor Hallucis Longus Tendon Sheath: A Case Report. 61
32649117 2020
47
Tenosynovial Giant Cell Tumor of Temporomandibular Joint and Skull Base Presenting as Ear Canal Mass. 61
30955370 2020
48
Unusual manifestations of diffuse-type tenosynovial giant cell tumor in two patients: importance of radiologic-pathologic correlation. 61
31656976 2020
49
Soft Tissue Special Issue: Giant Cell-Rich Lesions of the Head and Neck Region. 61
31950466 2020
50
A phase I study of pexidartinib, a colony-stimulating factor 1 receptor inhibitor, in Asian patients with advanced solid tumors. 61
30825104 2020
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Variations for Tenosynovial Giant Cell Tumor

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Expression for Tenosynovial Giant Cell Tumor

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Search GEO for disease gene expression data for Tenosynovial Giant Cell Tumor.
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Pathways for Tenosynovial Giant Cell Tumor

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Pathways related to Tenosynovial Giant Cell Tumor according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.8 SERPINA3 PDGFRB KIT IL34 CSF1R CSF1
2
ERK Signaling 63
Show member pathways
 13.6 PDGFRB KIT CSF1R CSF1 COL6A3 CDKN2B
3
Cytokine Signaling in Immune system 65
Show member pathways
 13.14 PDGFRB KIT IL34 CSF1R CSF1 CCR2
4
PI3K-Akt signaling pathway 36
Show member pathways
 12.77 PDGFRB KIT CSF1R CSF1 COL6A3
5
Pathways in cancer 36
12.58 PDGFRB KIT CSF1R CDKN2B CDKN2A
6
Chemokine Superfamily Pathway: Human/Mouse Ligand-Receptor Interactions 64
Show member pathways
 12.07 IL34 CSF1R CSF1 CCR2
7
C-MYB transcription factor network 1
11.55 KIT CSF1R CD34
8
Hematopoietic cell lineage 36
11.45 KIT CSF1R CSF1 CD34
9
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.42 KIT CSF1 CD68 CD34 CD163
10
Validated targets of C-MYC transcriptional repression 1
11.37 PDGFRB CLU CDKN2B
11
Signaling events mediated by PTP1B 1
11.24 PDGFRB CSF1R CSF1
12
Differentiation Pathway 1
11.18 KIT CSF1R CSF1
13
Signaling events mediated by TCPTP 1
Show member pathways
 11.06 PDGFRB CSF1R CSF1
14
Dendritic Cells Developmental Lineage Pathway 64
10.89 KIT CSF1R CSF1 CD34 CD163
15
G-protein signaling_Rap2B regulation pathway 23
10.8 PDGFRB KIT CSF1R CSF1 COL6A3
16
LDL Oxidation in Atherogenesis 63
10.75 CSF1 CD68
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GO Terms for Tenosynovial Giant Cell Tumor

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Cellular components related to Tenosynovial Giant Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.35 PDGFRB KIT CSF1R CLU CD34
2 CSF1-CSF1R complex GO:1990682 8.62 CSF1R CSF1

Biological processes related to Tenosynovial Giant Cell Tumor according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.98 PDGFRB KIT CSF1R CDKN2B CDKN2A
2 positive regulation of cell proliferation GO:0008284 9.93 PDGFRB KIT IL34 CSF1R CSF1
3 positive regulation of cell migration GO:0030335 9.83 PDGFRB KIT CSF1R CSF1
4 peptidyl-tyrosine phosphorylation GO:0018108 9.77 PDGFRB KIT CSF1R
5 positive regulation of gene expression GO:0010628 9.73 KIT IL34 CSF1 CLU CDKN2A CD34
6 cell chemotaxis GO:0060326 9.72 PDGFRB KIT CCR2
7 cytokine-mediated signaling pathway GO:0019221 9.72 KIT IL34 CSF1R CSF1 CCR2
8 positive regulation of kinase activity GO:0033674 9.67 PDGFRB KIT CSF1R
9 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.67 PDGFRB KIT CSF1R CSF1
10 hemopoiesis GO:0030097 9.65 KIT CSF1R CD34
11 positive regulation of MAP kinase activity GO:0043406 9.61 PDGFRB KIT IL34
12 negative regulation of phosphorylation GO:0042326 9.59 CDKN2B CDKN2A
13 positive regulation of macrophage differentiation GO:0045651 9.58 IL34 CSF1
14 positive regulation of phospholipase C activity GO:0010863 9.57 PDGFRB KIT
15 positive regulation of monocyte differentiation GO:0045657 9.56 IL34 CSF1
16 somatic stem cell division GO:0048103 9.51 KIT CDKN2A
17 inflammatory response GO:0006954 9.5 SERPINA3 KIT IL34 CSF1R CSF1 CD163
18 positive regulation of macrophage proliferation GO:0120041 9.46 IL34 CSF1R
19 macrophage colony-stimulating factor signaling pathway GO:0038145 9.4 CSF1R CSF1
20 positive regulation of macrophage chemotaxis GO:0010759 9.33 IL34 CSF1R CSF1
21 microglial cell proliferation GO:0061518 8.92 IL34 CSF1R CSF1 CLU

Molecular functions related to Tenosynovial Giant Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.16 USP6 SLC43A3 SERPINA3 PDGFRB KIT IL34
2 kinase activity GO:0016301 9.72 PDGFRB KIT CSF1R CDKN2B CDKN2A
3 protein tyrosine kinase activity GO:0004713 9.54 PDGFRB KIT CSF1R
4 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.16 CDKN2B CDKN2A
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.13 PDGFRB KIT CSF1R
6 macrophage colony-stimulating factor receptor binding GO:0005157 8.62 IL34 CSF1
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Sources for Tenosynovial Giant Cell Tumor

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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