DFSP
MCID: DRM014
MIFTS: 64

Dermatofibrosarcoma Protuberans (DFSP) malady

Genetic diseases, Rare diseases, Skin diseases, Cancer diseases categories
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Summaries for Dermatofibrosarcoma Protuberans

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Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Dermatofibrosarcoma Protuberans, also known as DFSP, is related to dermatofibrosarcoma and fibrous histiocytoma, and has symptoms including skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma), soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma and thick skin/pachydermia/orange skin. An important gene associated with Dermatofibrosarcoma Protuberans is PDGFB (platelet-derived growth factor beta polypeptide), and among its related pathways are Cytoskeleton remodeling Role of PDGFs in cell migration and PDGFR-beta signaling pathway. The compounds dmpq dihydrochloride and su 16f have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and lung, and related mouse phenotypes are pigmentation and respiratory system.

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.

Wikipedia:65 Dermatofibrosarcoma protuberans (DFSP) is a very rare tumor. It is a rare neoplasm of the dermis layer... more...

Description from OMIM:47 607907

Aliases & Classifications for Dermatofibrosarcoma Protuberans

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43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
dermatofibrosarcoma protuberans:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Adult


Aliases & Descriptions:

dermatofibrosarcoma protuberans 43 21 47 45 49 62
dfsp 43 21 49
dermatofibrosarcoma 21 62
metastatic dermatofibrosarcoma protuberans 43
familial dermatofibrosarcoma protuberans 43
giant cell fibroblastoma 43
darier-hoffmann tumor 21
darier-ferrand tumor 21


External Ids:

SNOMED-CT via Orphanet59 238863004, 276799004, 128742004
UMLS via Orphanet63 C0392784
OMIM47 607907
MESH via Orphanet36 C538219

Related Diseases for Dermatofibrosarcoma Protuberans

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

(show top 50)    (show all 142)
idRelated DiseaseScoreTop Affiliating Genes
1dermatofibrosarcoma32.5COL1A1, PDGFB
2fibrous histiocytoma30.8S100B, ACTC1, F13A1, DES
3fibroma30.8ACTC1, F13A1, DES
4fibrosarcoma30.7DES, ACTC1, PDGFRB
5merkel cell carcinoma30.6KIT, MUC1
6sarcoma30.6KIT, S100B, DES, F13A1, MUC1, ACTC1
7papilloma30.4ACTC1
8choroid plexus papilloma30.4MUC1, S100B
9glomus tumor30.4ACTC1, DES
10kaposi's sarcoma30.4PDGFB, F13A1
11meningioma30.3S100B, PDGFB, PDGFRB, MUC1
12adenocarcinoma30.2F13A1, MUC1, ACTC1, PDGFRB, PDGFB
13gastrointestinal stromal tumor30.1DES, ACTC1, PDGFRB, S100B, KIT
14giant cell tumor30.1DES, F13A1, MUC1, ACTC1, S100B
15melanoma30.0DES, F13A1, ACTC1, PDGFRB, PDGFB, S100B
16histiocytoma10.6
17burn scar10.4
18burns10.4
19spindle cell lipoma10.4
20lipoma10.4
21pancreatitis10.4
22bednar's tumor10.4
23myxofibrosarcoma10.4
24gynecomastia10.2
25encephalocele10.2
26encephaloceles10.2
27arteriovenous fistula10.2
28acquired immunodeficiency syndrome10.2
29mycosis fungoides10.2
30choroiditis10.2
31cushing's syndrome10.2
32adenosine deaminase deficiency10.2
33malignant giant cell tumor of soft parts10.2
34adult fibrosarcoma10.2
35breast cancer10.2
36cervicitis10.2
37endometriosis10.2
38epithelioid sarcoma10.2
39malignant giant cell tumor10.2
40neuroma10.2
41smallpox10.2
42shwachman-diamond syndrome10.2
43wilms tumor10.2
44halo nevi10.2
45ring chromosome 410.2
46soft tissue sarcoma10.2
47superior vena cava syndrome10.2
48sinusitis10.2
49endotheliitis10.2
50solitary fibrous tumor10.2

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



Diseases related to dermatofibrosarcoma protuberans

Symptoms for Dermatofibrosarcoma Protuberans

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Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

607907

Symptoms:

49
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • thick skin/pachydermia/orange skin
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • chronic skin infection/ulcerations/ulcers/cancrum
  • subcutaneous nodules/lipomas/tumefaction/swelling

Drugs & Therapeutics for Dermatofibrosarcoma Protuberans

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Dermatofibrosarcoma Protuberans:

33
Skin, Breast, Lung, Lymph node, Bone, Endothelial

Animal Models for Dermatofibrosarcoma Protuberans or affiliated genes

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37MGI
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Publications for Dermatofibrosarcoma Protuberans

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52PubMed
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Articles related to Dermatofibrosarcoma Protuberans:

(show top 50)    (show all 508)
idTitleAuthorsYear
1
Outcome of wide local excision in dermatofibrosarcoma protuberans and use of radiotherapy for margin-positive disease. (23741663)
2013
2
Dermatofibrosarcoma protuberans in a 10-year-old child. (24421865)
2013
3
Painful late recurrence of dermatofibrosarcoma protuberans of breast in a centurian female. (24298499)
2013
4
Abdominoplasty and thoraco-epigastric flaps for large anterior trunk defects after dermatofibrosarcoma protuberans wide resection: Two illustrative cases. (23219975)
2013
5
CD99 Expression in Dermatofibrosarcoma Protuberans and Dermatofibroma. (24247571)
2013
6
Magnetic resonance imaging of vulvar dermatofibrosarcoma protuberans - report of a case. (24133389)
2013
7
Reply to "More evidence that genetic profiling will delineate the nosology and biologic potential of fibrohistiocytic tumors in the dermatofibrosarcoma protuberans spectrum". (23602189)
2013
8
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
9
Dermatofibrosarcoma protuberans: Our experience of 59 cases. (23162649)
2012
10
Dermatofibrosarcoma protuberans in childhood. (23154247)
2012
11
Treatment of advanced dermatofibrosarcoma protuberans with imatinib mesylate with or without surgical resection. (20569296)
2011
12
Molecular diagnosis of dermatofibrosarcoma protuberans: a comparison between reverse transcriptase-polymerase chain reaction and fluorescence in situ hybridization methodologies. (21484928)
2011
13
Recurrent bilateral dermatofibrosarcoma protuberans of eyelids. (21346665)
2011
14
A case of childhood dermatofibrosarcoma protuberans of the face. (21763849)
2011
15
Dermatofibrosarcoma protuberans with areas of giant cell fibroblastoma in the vulva: a case report. (21319518)
2010
16
A novel COL1A1 exon 14/PDGFB fusion gene in dermatofibrosarcoma protuberans. (20133221)
2010
17
Imaging of dermatofibrosarcoma protuberans of breast. (20626395)
2010
18
Imatinib mesylate in advanced dermatofibrosarcoma protuberans: pooled analysis of two phase II clinical trials. (20194851)
2010
19
Cutaneous CD34+ spindle cell neoplasms: Histopathologic features distinguish spindle cell lipoma, solitary fibrous tumor, and dermatofibrosarcoma protuberans. (20559119)
2010
20
Dermatofibrosarcoma protuberans of the breast skin. (21091837)
2010
21
Surgical treatment for dermatofibrosarcoma protuberans: the Dartmouth experience and literature review. (18443511)
2008
22
Short German guidelines: dermatofibrosarcoma protuberans. (18801137)
2008
23
Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB. (18005119)
2008
24
Mohs micrographic surgery and dermatofibrosarcoma protuberans: a multidisciplinary approach in 44 patients. (18520205)
2008
25
Myxoid dermatofibrosarcoma protuberans: a rare variant analyzed in a series of 23 cases. (17721193)
2007
26
Dermatofibrosarcoma protuberans and small bowel adenocarcinoma: coincidental occurrence or genetic association? (18175227)
2006
27
Dermatofibrosarcoma protuberans: report of a case with a variant ring chromosome and metastases following pregnancy. (16640548)
2006
28
Dermatofibrosarcoma protuberans arising in a decorative tattoo. (18521416)
2005
29
Dermatofibrosarcoma protuberans occuring in a child. (15943042)
2005
30
Molecular and clinical analysis of locally advanced dermatofibrosarcoma protuberans treated with imatinib: Imatinib Target Exploration Consortium Study B2225. (15681532)
2005
31
Molecularly targeted treatment for dermatofibrosarcoma protuberans. (15176002)
2004
32
Dermatofibrosarcoma protuberans: a report on 29 patients treated by Mohs micrographic surgery with long-term follow-up and review of the literature. (15221986)
2004
33
Neurofibromatous changes in dermatofibrosarcoma protuberans: a potential pitfall in the diagnosis of a serious cutaneous soft tissue neoplasm. (15239679)
2004
34
Dermatofibrosarcoma protuberans arising from a burn scar of the axilla. (15084891)
2004
35
Dermatofibrosarcoma protuberans. (15503305)
2004
36
Giant fibrosarcoma arising in dermatofibrosarcoma protuberans on the scalp during pregnancy. (12614428)
2003
37
Dermatofibrosarcoma protuberans of the vulva and groin: detection of COL1A1-PDGFB fusion transcripts by RT-PCR. (12641779)
2003
38
COL1A1-PDGFB gene fusion demonstrates a common histogenetic origin for dermatofibrosarcoma protuberans and its granular cell variant. (12131162)
2002
39
Composite dermatofibrosarcoma protuberans-giant cell fibroblastoma recurring as BednA!r tumor-giant cell fibroblastoma with mucoid lakes and with amputation neuroma. (12629865)
2002
40
Dermatofibrosarcoma protuberans: experience with 14 cases. (11763383)
2001
41
Expression of COL1A1-PDGFB fusion transcripts in superficial adult fibrosarcoma suggests a close relationship to dermatofibrosarcoma protuberans. (11329146)
2001
42
Dermatofibrosarcoma protuberans: A clinicopathologic analysis of patients treated and followed at a single institution. (10870053)
2000
43
A morphologic study of dermatofibrosarcoma protuberans: expansion of a histologic profile. (10774935)
2000
44
Dermatofibrosarcoma protuberans of the head and neck. (11034249)
2000
45
Dermatofibrosarcoma protuberans: what is the best surgical approach? (11128831)
1999
46
Darier-White disease and dermatofibrosarcoma protuberans. (10592418)
1999
47
Acral dermatofibrosarcoma protuberans with metastases. (10029491)
1999
48
Dermatofibrosarcoma protuberans of the vulva: clinicopathologic and immunohistochemical analysis of four cases, one with fibrosarcomatous change, and review of the literature. (10542946)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Dermatofibrosarcoma Protuberans:

1
id Gene Name Type Significance SNP ID Assembly Location
1PDGFBPDGFB, PDGFB/COL1A1 FUSIONundetermined variantPathogenic/card/dermatofibrosarcoma_protuberans

Expression for genes affiliated with Dermatofibrosarcoma Protuberans

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dermatofibrosarcoma Protuberans

Search GEO for disease gene expression data for Dermatofibrosarcoma Protuberans.

Pathways for genes affiliated with Dermatofibrosarcoma Protuberans

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Sources:
50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 30KEGG, 53QIAGEN, 55Reactome
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Pathways related to Dermatofibrosarcoma Protuberans according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
PDGF Pathway38
9.7PDGFRB, PDGFB
29.7PDGFB, PDGFRB
39.7PDGFB, PDGFRB
49.5ACTC1, KIT
59.4PDGFRB, PDGFB, COL1A1
6
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
9.4PDGFB, PDGFRB, COL1A1
7
Show member pathways
9.2KIT, PDGFRB, PDGFB
8
Show member pathways
9.2PDGFRB, PDGFB, KIT
9
Show member pathways
9.2PDGFRB, PDGFB, KIT
10
Show member pathways
9.2PDGFRB, PDGFB, KIT
119.2PDGFB, PDGFRB, KIT
12
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.2KIT, PDGFRB, COL1A1
13
Show member pathways
9.2ACTC1, DES
148.9COL1A1, KIT, PDGFB, PDGFRB
15
Show member pathways
8.9COL1A1, PDGFRB, PDGFB, KIT
16
Show member pathways
8.7KIT, PDGFRB, S100B, PDGFB
17
Show member pathways
7.4PDGFRB, PDGFB, COL1A1, MUC1, DES, KIT

Compounds for genes affiliated with Dermatofibrosarcoma Protuberans

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Sources:
61Tocris Bioscience, 45Novoseek, 51PharmGKB, 11DrugBank, 3BitterDB, 24HMDB, 29IUPHAR
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Compounds related to Dermatofibrosarcoma Protuberans according to GeneCards/GeneDecks:

(show top 50)    (show all 75)
idCompoundScoreTop Affiliating Genes
1dmpq dihydrochloride6110.1PDGFRB, PDGFB
2su 16f6110.1PDGFRB, PDGFB
3su 66686110.0PDGFRB, PDGFB
4sunitinib malate6110.0PDGFRB, PDGFB
5su6668459.8PDGFRB, KIT
6zd6474459.8KIT, PDGFRB
7pkc 412459.7KIT, PDGFRB
8ag-1296459.6KIT, PDGFRB
9eosin459.6S100B, MUC1
10capecitabine45 51 1111.5KIT, PDGFRB
11su5416459.4PDGFRB, KIT
12silver459.3DES, F13A1, PDGFB
13toluidine459.1DES, KIT
14orcein459.1DES, ACTC1, S100B
15chloramphenicol45 3 51 1112.0S100B, PDGFB, COL1A1, MUC1
16agarose458.9MUC1, S100B, KIT
17oligonucleotide458.9F13A1, COL1A1, PDGFRB, PDGFB, KIT
18biotin45 24 1110.8DES, MUC1, ACTC1
19valine458.8KIT, S100B, COL1A1
20bromodeoxyuridine458.8DES, PDGFRB, PDGFB, S100B
21gold458.7KIT, MUC1, DES
22procollagen458.6DES, F13A1, ACTC1, COL1A1, PDGFB
23iron45 249.6DES, F13A1, ACTC1, S100B
24dexamethasone45 51 29 1111.6MUC1, ACTC1, COL1A1, PDGFB, S100B
25methionine458.6KIT, S100B, PDGFRB, DES
26mucicarmine458.5S100B, ACTC1, MUC1, DES
27creatinine458.3DES, MUC1, ACTC1, S100B
28ribonucleic acid458.2MUC1, ACTC1, COL1A1, PDGFRB, PDGFB, KIT
29s 100458.1DES, F13A1, MUC1, ACTC1, S100B
30reticulin458.1DES, F13A1, MUC1, ACTC1, S100B
31b 723458.1DES, F13A1, MUC1, ACTC1, S100B
32nitric oxide45 24 1110.0DES, MUC1, PDGFB, S100B, KIT
33formaldehyde45 249.0DES, MUC1, ACTC1, S100B, KIT
34glycogen45 248.9DES, MUC1, ACTC1, S100B, KIT
35threonine457.9KIT, S100B, PDGFRB, MUC1, DES
36thymidine45 248.7DES, MUC1, COL1A1, PDGFB, S100B, KIT
37oxygen45 248.7DES, MUC1, ACTC1, PDGFRB, PDGFB, S100B
38cysteine457.6DES, MUC1, COL1A1, PDGFRB, S100B, KIT
39hematoxylin457.6DES, F13A1, MUC1, ACTC1, S100B, KIT
40imatinib45 51 119.5DES, ACTC1, COL1A1, PDGFRB, PDGFB, S100B
41testosterone45 61 24 1110.5DES, MUC1, ACTC1, PDGFRB, S100B, KIT
42serine457.3DES, MUC1, COL1A1, PDGFRB, PDGFB, S100B
43glucose457.2DES, MUC1, ACTC1, PDGFRB, PDGFB, S100B
44retinoic acid45 248.2DES, MUC1, ACTC1, COL1A1, PDGFRB, S100B
45tyrosine457.2DES, MUC1, ACTC1, PDGFRB, PDGFB, S100B
46paraffin456.9DES, F13A1, MUC1, ACTC1, PDGFRB, PDGFB
47progesterone45 29 61 24 1110.9DES, F13A1, MUC1, ACTC1, PDGFRB, PDGFB
48calcium45 51 24 119.8DES, F13A1, MUC1, ACTC1, COL1A1, PDGFRB
49vegf456.5KIT, DES, F13A1, MUC1, S100B, PDGFB
50estrogen456.5DES, F13A1, MUC1, ACTC1, COL1A1, PDGFRB

GO Terms for genes affiliated with Dermatofibrosarcoma Protuberans

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Sources:
16Gene Ontology
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Cellular components related to Dermatofibrosarcoma Protuberans according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.8PDGFB, F13A1
2extracellular spaceGO:0056158.0KIT, S100B, PDGFB, COL1A1, ACTC1

Biological processes related to Dermatofibrosarcoma Protuberans according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular mesangial cell proliferation involved in metanephros developmentGO:07226210.1PDGFB, PDGFRB
2positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:03579310.1PDGFB, PDGFRB
3positive regulation of DNA biosynthetic processGO:200057310.1PDGFB, PDGFRB
4positive regulation of calcium ion importGO:09028010.1PDGFRB, PDGFB
5positive regulation of chemotaxisGO:05092110.1PDGFRB, PDGFB
6positive regulation of smooth muscle cell migrationGO:01491110.0PDGFB, PDGFRB
7positive regulation of reactive oxygen species metabolic processGO:200037910.0PDGFRB, PDGFB
8platelet-derived growth factor receptor signaling pathwayGO:0480089.9PDGFRB, PDGFB
9cardiac myofibril assemblyGO:0550039.9ACTC1, PDGFRB
10positive regulation of mitosisGO:0458409.9PDGFB, PDGFRB
11positive regulation of phospholipase C activityGO:0108639.9KIT, PDGFRB
12response to hydrogen peroxideGO:0425429.8COL1A1, PDGFRB
13response to estradiolGO:0323559.8COL1A1, PDGFRB, PDGFB
14positive regulation of smooth muscle cell proliferationGO:0486619.7PDGFB, PDGFRB
15platelet activationGO:0301689.7PDGFB, COL1A1, F13A1
16positive regulation of MAP kinase activityGO:0434069.6PDGFB, PDGFRB
17positive regulation of MAPK cascadeGO:0434109.6KIT, PDGFB
18positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.6PDGFRB, PDGFB, KIT
19cell chemotaxisGO:0603269.6PDGFRB, PDGFB, KIT
20positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.6KIT, PDGFB, PDGFRB
21peptidyl-tyrosine phosphorylationGO:0181089.6KIT, PDGFB, PDGFRB
22phosphatidylinositol-mediated signalingGO:0480159.5PDGFRB, PDGFB, KIT
23fibroblast growth factor receptor signaling pathwayGO:0085439.5PDGFRB, PDGFB, KIT
24Fc-epsilon receptor signaling pathwayGO:0380959.5PDGFRB, PDGFB, KIT
25epidermal growth factor receptor signaling pathwayGO:0071739.5KIT, PDGFB, PDGFRB
26neurotrophin TRK receptor signaling pathwayGO:0480119.4PDGFRB, PDGFB, KIT
27hemopoiesisGO:0300979.3KIT, PDGFB
28muscle filament slidingGO:0300499.3ACTC1, DES
29positive regulation of cell migrationGO:0303359.3KIT, PDGFB, PDGFRB, COL1A1
30positive regulation of cell proliferationGO:0082849.1PDGFRB, PDGFB, S100B, KIT
31innate immune responseGO:0450879.0KIT, S100B, PDGFB, PDGFRB

Molecular functions related to Dermatofibrosarcoma Protuberans according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor receptor bindingGO:0051619.4PDGFB, PDGFRB
2platelet-derived growth factor bindingGO:0484079.4COL1A1, PDGFRB, PDGFB
3identical protein bindingGO:0428028.4DES, COL1A1, PDGFB, S100B
4protein bindingGO:0055156.9MUC1, COL1A1, PDGFRB, PDGFB, S100B, KIT

Products for genes affiliated with Dermatofibrosarcoma Protuberans

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  • Antibodies
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Sources for Dermatofibrosarcoma Protuberans

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet