MCID: DRM014
MIFTS: 59

Dermatofibrosarcoma Protuberans malady

Genetic diseases, Rare diseases, Skin diseases, Cancer diseases categories

Summaries for Dermatofibrosarcoma Protuberans

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NIH Rare Diseases:41 Dermatofibrosarcoma protuberans is an uncommon tumor that arises in the skin. the tumor is firm and often flesh-colored although it can be reddish, bluish, or purplish. the tumor is often found on the chest or shoulders, but it can be found on other parts of the body.  dermatofibrosarcoma protuberans may cause no symptoms, and the initial size of the tumor tends to be around 1 to 5 centimeters. this tumor has a low potential to spread to other tissues (metastasize). treatment often involves surgery to remove the tumor, such as by mohs’ micrographic surgery.  last updated: 11/18/2010

MalaCards based summary: Dermatofibrosarcoma Protuberans, also known as dermatofibrosarcoma, is related to merkel cell carcinoma and papilloma, and has symptoms including thickened skin, neoplasm of the skin and sarcoma. An important gene associated with Dermatofibrosarcoma Protuberans is PDGFB (platelet-derived growth factor beta polypeptide), and among its related pathways are G protein signaling H RAS regulation pathway and PDGFR-beta signaling pathway. The compounds su 6668 and sunitinib malate have been mentioned in the context of this disorder. Affiliated tissues include the dermis laryer of the skin, skin and breast, and related mouse phenotypes are pigmentation and respiratory system.

Disease Ontology:9 A fibrosarcoma that is located in the dermis laryer of the skin and that begins as a hard nodule and grows slowly.

Genetics Home Reference:21 Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, which are cancers that affect skin, fat, muscle, and similar tissues.

OMIM:45 Dermatofibrosarcoma protuberans (DFSP) is an uncommon, locally aggressive, but rarely metastasizing tumor of the deep... (607907) more...

Wikipedia:63 Dermatofibrosarcoma protuberans (DFSP) is a very rare tumor. It is a rare neoplasm of the dermis layer... more...

Aliases & Classifications for Dermatofibrosarcoma Protuberans

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Sources:
45OMIM, 9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 33MeSH, 34MESH via Orphanet, 61UMLS via Orphanet
See all sources

Dermatofibrosarcoma Protuberans, Aliases & Descriptions:

Name: Dermatofibrosarcoma Protuberans 45 9 41 21 43 47 60
Dermatofibrosarcoma 21 11 43 60
Dfsp 41 21 47
Metastatic Dermatofibrosarcoma Protuberans 41
 
Familial Dermatofibrosarcoma Protuberans 41
Giant Cell Fibroblastoma 41
Darier-Hoffmann Tumor 21
Darier-Ferrand Tumor 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

47
dermatofibrosarcoma protuberans:
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: adult


External Ids:

OMIM45 607907
Disease Ontology9 DOID:3507
Orphanet47 31112
MESH via Orphanet34 C538219
UMLS via Orphanet61 C0392784

Related Diseases for Dermatofibrosarcoma Protuberans

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Diseases related to Dermatofibrosarcoma Protuberans via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 144)
idRelated DiseaseScoreTop Affiliating Genes
1merkel cell carcinoma30.8KIT, MUC1
2papilloma30.7ACTC1
3fibroma30.7DES, F13A1, ACTC1
4fibrosarcoma30.7PDGFRB, ACTC1, DES
5choroid plexus papilloma30.6MUC1, S100B
6glomus tumor30.5DES, ACTC1
7fibrous histiocytoma30.5DES, S100B, ACTC1, F13A1
8adenocarcinoma29.9F13A1, MUC1, PDGFB, PDGFRB, ACTC1
9gastrointestinal stromal tumor29.6KIT, S100B, DES, ACTC1, PDGFRB
10giant cell tumor29.6S100B, F13A1, MUC1, ACTC1, DES
11sarcoma29.4F13A1, MUC1, ACTC1, PDGFRB, PDGFB, S100B
12melanoma29.1F13A1, DES, ACTC1, PDGFRB, PDGFB, S100B
13histiocytoma10.6
14carney triad10.4KIT
15fasciitis10.4ACTC1
16histiocytosis10.4S100B
17encephalocele10.4
18myelofibrosis10.4PDGFRB
19lipoma10.4
20burn scar10.4
21burns10.4
22spindle cell lipoma10.4
23pancreatitis10.4
24bednar's tumor10.4
25myxofibrosarcoma10.4
26ganglioglioma10.4S100B
27gingival overgrowth10.3COL1A1, PDGFB
28infantile myofibromatosis10.3DES
29hemangioma10.3ACTC1, F13A1
30juvenile xanthogranuloma10.3S100B, F13A1
31renal fibrosis10.3PDGFB, PDGFRB
32gynecomastia10.3
33langerhans-cell histiocytosis10.2S100B, F13A1
34malignant mixed mullerian tumor10.2PDGFRB, KIT
35hypereosinophilic syndrome, idiopathic, resistant to imatinib10.2KIT, PDGFRB
36breast cancer10.2
37wilms tumor10.2
38arteriovenous fistula10.2
39keloids10.2
40mycosis fungoides10.2
41sinusitis10.2
42acquired immunodeficiency syndrome10.2
43duodenitis10.2
44choroiditis10.2
45cushing's syndrome10.2
46malignant giant cell tumor of soft parts10.2
47adult fibrosarcoma10.2
48adenosine deaminase deficiency10.2
49cervicitis10.2
50endometriosis10.2

Graphical network of the top 20 diseases related to Dermatofibrosarcoma Protuberans:



Diseases related to dermatofibrosarcoma protuberans

Symptoms for Dermatofibrosarcoma Protuberans

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Clinical features from OMIM:

607907

Symptoms:

 47
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • thick skin/pachydermia/orange skin
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • chronic skin infection/ulcerations/ulcers/cancrum

HPO human phenotypes related to Dermatofibrosarcoma Protuberans:

id Description Frequency HPO Source Accession
1 thickened skin hallmark (90%) HP:0001072
2 neoplasm of the skin hallmark (90%) HP:0008069
3 sarcoma hallmark (90%) HP:0100242
4 skin ulcer typical (50%) HP:0200042

Drugs & Therapeutics for Dermatofibrosarcoma Protuberans

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Drug clinical trials:

Search ClinicalTrials for Dermatofibrosarcoma Protuberans

Search NIH Clinical Center for Dermatofibrosarcoma Protuberans

Genetic Tests for Dermatofibrosarcoma Protuberans

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Anatomical Context for Dermatofibrosarcoma Protuberans

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MalaCards organs/tissues related to Dermatofibrosarcoma Protuberans:

31
Skin, Breast, Lung, Bone, Lymph node, Pancreas, Testes, Endothelial

FMA organs/tissues related to Dermatofibrosarcoma Protuberans:

14
The dermis laryer of the skin

Animal Models for Dermatofibrosarcoma Protuberans or affiliated genes

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Publications for Dermatofibrosarcoma Protuberans

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Articles related to Dermatofibrosarcoma Protuberans:

(show top 50)    (show all 554)
idTitleAuthorsYear
1
Dermatoscopic findings of atrophic dermatofibrosarcoma protuberans. (25692086)
2015
2
Dermatofibrosarcoma protuberans, version 1.2014. (24925197)
2014
3
Dermatofibrosarcoma protuberans of the vulva: margins assessment and reconstructive options - a report of two cases. (25547686)
2014
4
Dermatofibrosarcoma protuberans in children and adolescents: Clinical presentation, histology, treatment, and review of the literature. (24973861)
2014
5
Truncal myxoid Dermatofibrosarcoma Protuberans in a 11-month old child. (25163850)
2014
6
Deep dermatofibrosarcoma protuberans in a ninety-year old-woman. (25419747)
2014
7
Outcome of wide local excision in dermatofibrosarcoma protuberans and use of radiotherapy for margin-positive disease. (23741663)
2013
8
Dermatofibrosarcoma protuberans in a 10-year-old child. (24421865)
2013
9
Painful late recurrence of dermatofibrosarcoma protuberans of breast in a centurian female. (24298499)
2013
10
Abdominoplasty and thoraco-epigastric flaps for large anterior trunk defects after dermatofibrosarcoma protuberans wide resection: Two illustrative cases. (23219975)
2013
11
CD99 Expression in Dermatofibrosarcoma Protuberans and Dermatofibroma. (24247571)
2013
12
Magnetic resonance imaging of vulvar dermatofibrosarcoma protuberans - report of a case. (24133389)
2013
13
Practice gaps. Underuse of Mohs micrographic surgery for the treatment of dermatofibrosarcoma protuberans: comment on "efficacy of mohs micrographic surgery for the treatment of dermatofibrosarcoma protuberans". (22986860)
2012
14
Dermatofibrosarcoma protuberans: Our experience of 59 cases. (23162649)
2012
15
Dermatofibrosarcoma protuberans in childhood. (23154247)
2012
16
Treatment of advanced dermatofibrosarcoma protuberans with imatinib mesylate with or without surgical resection. (20569296)
2011
17
Molecular diagnosis of dermatofibrosarcoma protuberans: a comparison between reverse transcriptase-polymerase chain reaction and fluorescence in situ hybridization methodologies. (21484928)
2011
18
Recurrent bilateral dermatofibrosarcoma protuberans of eyelids. (21346665)
2011
19
Dermatofibrosarcoma protuberans with areas of giant cell fibroblastoma in the vulva: a case report. (21319518)
2010
20
A novel COL1A1 exon 14/PDGFB fusion gene in dermatofibrosarcoma protuberans. (20133221)
2010
21
Imaging of dermatofibrosarcoma protuberans of breast. (20626395)
2010
22
Imatinib mesylate in advanced dermatofibrosarcoma protuberans: pooled analysis of two phase II clinical trials. (20194851)
2010
23
Surgical treatment for dermatofibrosarcoma protuberans: the Dartmouth experience and literature review. (18443511)
2008
24
Short German guidelines: dermatofibrosarcoma protuberans. (18801137)
2008
25
Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB. (18005119)
2008
26
Mohs micrographic surgery and dermatofibrosarcoma protuberans: a multidisciplinary approach in 44 patients. (18520205)
2008
27
Myxoid dermatofibrosarcoma protuberans: a rare variant analyzed in a series of 23 cases. (17721193)
2007
28
Dermatofibrosarcoma protuberans and small bowel adenocarcinoma: coincidental occurrence or genetic association? (18175227)
2006
29
Dermatofibrosarcoma protuberans: report of a case with a variant ring chromosome and metastases following pregnancy. (16640548)
2006
30
Dermatofibrosarcoma protuberans arising in a decorative tattoo. (18521416)
2005
31
Dermatofibrosarcoma protuberans occuring in a child. (15943042)
2005
32
Molecular and clinical analysis of locally advanced dermatofibrosarcoma protuberans treated with imatinib: Imatinib Target Exploration Consortium Study B2225. (15681532)
2005
33
Molecularly targeted treatment for dermatofibrosarcoma protuberans. (15176002)
2004
34
Dermatofibrosarcoma protuberans: a report on 29 patients treated by Mohs micrographic surgery with long-term follow-up and review of the literature. (15221986)
2004
35
Neurofibromatous changes in dermatofibrosarcoma protuberans: a potential pitfall in the diagnosis of a serious cutaneous soft tissue neoplasm. (15239679)
2004
36
Dermatofibrosarcoma protuberans arising from a burn scar of the axilla. (15084891)
2004
37
Dermatofibrosarcoma protuberans. (15503305)
2004
38
Giant fibrosarcoma arising in dermatofibrosarcoma protuberans on the scalp during pregnancy. (12614428)
2003
39
Dermatofibrosarcoma protuberans of the vulva and groin: detection of COL1A1-PDGFB fusion transcripts by RT-PCR. (12641779)
2003
40
COL1A1-PDGFB gene fusion demonstrates a common histogenetic origin for dermatofibrosarcoma protuberans and its granular cell variant. (12131162)
2002
41
Composite dermatofibrosarcoma protuberans-giant cell fibroblastoma recurring as BednA!r tumor-giant cell fibroblastoma with mucoid lakes and with amputation neuroma. (12629865)
2002
42
Dermatofibrosarcoma protuberans: experience with 14 cases. (11763383)
2001
43
Dermatofibrosarcoma protuberans: A clinicopathologic analysis of patients treated and followed at a single institution. (10870053)
2000
44
A morphologic study of dermatofibrosarcoma protuberans: expansion of a histologic profile. (10774935)
2000
45
Dermatofibrosarcoma protuberans of the head and neck. (11034249)
2000
46
Dermatofibrosarcoma protuberans: what is the best surgical approach? (11128831)
1999
47
Darier-White disease and dermatofibrosarcoma protuberans. (10592418)
1999
48
Acral dermatofibrosarcoma protuberans with metastases. (10029491)
1999
49
A cutaneous case of giant cell angiofibroma occurring with dermatofibrosarcoma protuberans and showing bimodal CD34+ fibroblastic and FXIIIa+ histiocytic immunophenotype. (9696292)
1998
50
Sclerosing dermatofibrosarcoma protuberans. (9826170)
1998

Variations for Dermatofibrosarcoma Protuberans

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Clinvar genetic disease variations for Dermatofibrosarcoma Protuberans:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PDGFBPDGFB, PDGFB/COL1A1 FUSIONundetermined variantPathogenic

Cosmic variations for Dermatofibrosarcoma Protuberans:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1584NRASskin,shoulder,benign melanocytic nevus,congenital1

Expression for genes affiliated with Dermatofibrosarcoma Protuberans

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Search GEO for disease gene expression data for Dermatofibrosarcoma Protuberans.

Pathways for genes affiliated with Dermatofibrosarcoma Protuberans

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Pathways related to Dermatofibrosarcoma Protuberans according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7PDGFRB, PDGFB
29.7PDGFRB, PDGFB
3
Show member pathways
PDGF Pathway36
9.7PDGFB, PDGFRB
49.5KIT, ACTC1
59.4PDGFB, PDGFRB, COL1A1
6
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
9.4PDGFB, PDGFRB, COL1A1
7
Show member pathways
9.2KIT, PDGFB, PDGFRB
8
Show member pathways
9.2KIT, PDGFB, PDGFRB
9
Show member pathways
9.2KIT, PDGFB, PDGFRB
10
Show member pathways
9.2PDGFRB, PDGFB, KIT
119.2PDGFRB, PDGFB, KIT
12
Show member pathways
Development EDNRB signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
9.2COL1A1, PDGFRB, KIT
13
Show member pathways
9.2ACTC1, DES
14
Show member pathways
8.9COL1A1, PDGFRB, PDGFB, KIT
158.9COL1A1, PDGFRB, PDGFB, KIT
16
Show member pathways
8.7KIT, S100B, PDGFB, PDGFRB
17
Show member pathways
7.4DES, MUC1, COL1A1, PDGFRB, PDGFB, KIT

Compounds for genes affiliated with Dermatofibrosarcoma Protuberans

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Compounds related to Dermatofibrosarcoma Protuberans according to GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idCompoundScoreTop Affiliating Genes
1su 66685910.1PDGFRB, PDGFB
2sunitinib malate5910.0PDGFRB, PDGFB
3su 16f5910.0PDGFB, PDGFRB
4dmpq dihydrochloride5910.0PDGFB, PDGFRB
5su6668439.9KIT, PDGFRB
6zd6474439.8PDGFRB, KIT
7pkc 412439.7PDGFRB, KIT
8ag-1296439.6KIT, PDGFRB
9eosin439.6MUC1, S100B
10su5416439.5PDGFRB, KIT
11capecitabine43 49 1211.5PDGFRB, KIT
12silver439.3PDGFB, DES, F13A1
13orcein439.1DES, ACTC1, S100B
14chloramphenicol43 2 49 1212.0MUC1, COL1A1, S100B, PDGFB
15toluidine439.0DES, KIT
16agarose438.9KIT, MUC1, S100B
17oligonucleotide438.9F13A1, COL1A1, PDGFRB, KIT, PDGFB
18biotin43 24 1210.8ACTC1, DES, MUC1
19valine438.8COL1A1, KIT, S100B
20bromodeoxyuridine438.8PDGFRB, PDGFB, DES, S100B
21gold438.7KIT, DES, MUC1
22procollagen438.6PDGFB, COL1A1, ACTC1, F13A1, DES
23iron43 249.6ACTC1, S100B, F13A1, DES
24dexamethasone43 49 28 1211.6MUC1, S100B, COL1A1, ACTC1, PDGFB
25methionine438.6S100B, DES, KIT, PDGFRB
26mucicarmine438.5S100B, MUC1, DES, ACTC1
27creatinine438.3DES, ACTC1, MUC1, S100B
28ribonucleic acid438.2PDGFB, COL1A1, KIT, ACTC1, MUC1, PDGFRB
29s 100438.1DES, F13A1, MUC1, ACTC1, S100B
30reticulin438.1MUC1, ACTC1, F13A1, DES, S100B
31b 723438.1S100B, ACTC1, MUC1, F13A1, DES
32nitric oxide43 24 1210.0S100B, KIT, PDGFB, MUC1, DES
33formaldehyde43 249.0DES, KIT, ACTC1, MUC1, S100B
34glycogen43 248.9ACTC1, S100B, MUC1, KIT, DES
35threonine437.9S100B, KIT, PDGFRB, MUC1, DES
36thymidine43 248.7MUC1, DES, COL1A1, S100B, PDGFB, KIT
37oxygen43 248.7PDGFRB, S100B, MUC1, PDGFB, ACTC1, DES
38cysteine437.6COL1A1, PDGFRB, MUC1, KIT, DES, S100B
39hematoxylin437.6DES, MUC1, ACTC1, F13A1, S100B, KIT
40imatinib43 49 129.5KIT, S100B, PDGFB, PDGFRB, COL1A1, ACTC1
41testosterone43 59 24 1210.5S100B, KIT, PDGFRB, ACTC1, DES, MUC1
42serine437.3DES, S100B, PDGFB, KIT, MUC1, PDGFRB
43glucose437.2ACTC1, PDGFRB, PDGFB, S100B, MUC1, DES
44retinoic acid43 248.2ACTC1, MUC1, COL1A1, PDGFRB, S100B, KIT
45tyrosine437.2DES, MUC1, ACTC1, PDGFB, S100B, KIT
46paraffin436.9ACTC1, MUC1, F13A1, DES, PDGFB, S100B
47progesterone43 28 59 24 1210.9MUC1, F13A1, ACTC1, PDGFRB, PDGFB, S100B
48calcium43 49 24 129.8MUC1, DES, F13A1, ACTC1, COL1A1, PDGFRB
49vegf436.5KIT, DES, F13A1, MUC1, S100B, PDGFB
50estrogen436.5MUC1, PDGFB, KIT, S100B, PDGFRB, COL1A1

GO Terms for genes affiliated with Dermatofibrosarcoma Protuberans

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Cellular components related to Dermatofibrosarcoma Protuberans according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.8PDGFB, F13A1
2extracellular spaceGO:00056158.0KIT, S100B, PDGFB, COL1A1, ACTC1

Biological processes related to Dermatofibrosarcoma Protuberans according to GeneCards Suite gene sharing:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular mesangial cell proliferation involved in metanephros developmentGO:007226210.1PDGFB, PDGFRB
2positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:003579310.1PDGFB, PDGFRB
3positive regulation of DNA biosynthetic processGO:0200057310.1PDGFB, PDGFRB
4positive regulation of calcium ion importGO:009028010.1PDGFRB, PDGFB
5positive regulation of chemotaxisGO:005092110.1PDGFRB, PDGFB
6positive regulation of smooth muscle cell migrationGO:001491110.0PDGFB, PDGFRB
7positive regulation of reactive oxygen species metabolic processGO:0200037910.0PDGFRB, PDGFB
8platelet-derived growth factor receptor signaling pathwayGO:00480089.9PDGFRB, PDGFB
9cardiac myofibril assemblyGO:00550039.9ACTC1, PDGFRB
10positive regulation of mitosisGO:00458409.9PDGFB, PDGFRB
11positive regulation of phospholipase C activityGO:00108639.9KIT, PDGFRB
12response to hydrogen peroxideGO:00425429.8COL1A1, PDGFRB
13response to estradiolGO:00323559.8COL1A1, PDGFRB, PDGFB
14positive regulation of smooth muscle cell proliferationGO:00486619.7PDGFB, PDGFRB
15platelet activationGO:00301689.7PDGFB, COL1A1, F13A1
16positive regulation of MAP kinase activityGO:00434069.6PDGFB, PDGFRB
17positive regulation of MAPK cascadeGO:00434109.6KIT, PDGFB
18positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.6PDGFRB, PDGFB, KIT
19cell chemotaxisGO:00603269.6PDGFRB, PDGFB, KIT
20positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.6KIT, PDGFB, PDGFRB
21peptidyl-tyrosine phosphorylationGO:00181089.6KIT, PDGFB, PDGFRB
22phosphatidylinositol-mediated signalingGO:00480159.5PDGFRB, PDGFB, KIT
23fibroblast growth factor receptor signaling pathwayGO:00085439.5PDGFRB, PDGFB, KIT
24Fc-epsilon receptor signaling pathwayGO:00380959.5PDGFRB, PDGFB, KIT
25epidermal growth factor receptor signaling pathwayGO:00071739.5KIT, PDGFB, PDGFRB
26neurotrophin TRK receptor signaling pathwayGO:00480119.4PDGFRB, PDGFB, KIT
27hemopoiesisGO:00300979.3KIT, PDGFB
28muscle filament slidingGO:00300499.3ACTC1, DES
29positive regulation of cell migrationGO:00303359.3KIT, PDGFB, PDGFRB, COL1A1
30positive regulation of cell proliferationGO:00082849.1PDGFRB, PDGFB, S100B, KIT
31innate immune responseGO:00450879.0KIT, S100B, PDGFB, PDGFRB

Molecular functions related to Dermatofibrosarcoma Protuberans according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor receptor bindingGO:00051619.4PDGFRB, PDGFB
2platelet-derived growth factor bindingGO:00484079.4PDGFB, PDGFRB, COL1A1
3identical protein bindingGO:00428028.4S100B, PDGFB, COL1A1, DES
4protein bindingGO:00055156.9KIT, S100B, PDGFB, PDGFRB, COL1A1, MUC1

Products for genes affiliated with Dermatofibrosarcoma Protuberans

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3CDC
13ExPASy
14FMA
22GTR
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25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
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51QIAGEN
56SNOMED-CT via Orphanet
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