MCID: GST061
MIFTS: 17

Gastrointestinal Stromal Tumor, Somatic malady

Gastrointestinal, Cancer categories

Summaries for Gastrointestinal Stromal Tumor, Somatic

Sources:
47OMIM, 33MalaCards
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MalaCards: Gastrointestinal Stromal Tumor, Somatic is related to uterine sarcoma and dermatofibrosarcoma protuberans. An important gene associated with Gastrointestinal Stromal Tumor, Somatic is PDGFRA (platelet-derived growth factor receptor, alpha polypeptide), and among its related pathways are Pathways in cancer and Actin Nucleation by ARP-WASP Complex. The compounds pkc 412 and ag-1296 have been mentioned in the context of this disorder. Related mouse phenotype pigmentation.

Description from OMIM:47 606764

Aliases & Classifications for Gastrointestinal Stromal Tumor, Somatic

Sources:
47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Gastrointestinal


Aliases & Descriptions:

gastrointestinal stromal tumor, somatic 47


Related Diseases for Gastrointestinal Stromal Tumor, Somatic

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Gastrointestinal Stromal Tumor, Somatic:



Diseases related to gastrointestinal stromal tumor, somatic

Clinical Features for Gastrointestinal Stromal Tumor, Somatic

Sources:
47OMIM
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Clinical features from OMIM:

606764

Drugs & Therapeutics for Gastrointestinal Stromal Tumor, Somatic

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Gastrointestinal Stromal Tumor, Somatic

Search CenterWatch for Gastrointestinal Stromal Tumor, Somatic

Genetic Tests for Gastrointestinal Stromal Tumor, Somatic

Anatomical Context for Gastrointestinal Stromal Tumor, Somatic

Animal Models for Gastrointestinal Stromal Tumor, Somatic or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor, Somatic:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1KIT, PDGFRA

Publications for Gastrointestinal Stromal Tumor, Somatic

Sources:
51PubMed
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Articles related to Gastrointestinal Stromal Tumor, Somatic:

idTitleAuthorsYear
1
Multiple sporadic gastrointestinal stromal tumors (GISTs) of the proximal stomach are caused by different somatic KIT mutations suggesting a field effect. (18724245)
2008
2
Sporadic somatic mutation of c-kit gene in a family with gastrointestinal stromal tumors without cutaneous hyperpigmentation. (16586562)
2006

Genetic Variations for Gastrointestinal Stromal Tumor, Somatic

Expression for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

Search GEO for disease gene expression data for Gastrointestinal Stromal Tumor, Somatic.

Pathways for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

Sources:
30KEGG, 52QIAGEN, 54Reactome, 50PharmGKB, 4Cell Signaling Technology, 38NCBI BioSystems Database
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Pathways related to Gastrointestinal Stromal Tumor, Somatic according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1KIT, PDGFRA
2
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9.1KIT, PDGFRA
39.1PDGFRA, KIT
4
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9.1KIT, PDGFRA
5
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9.1KIT, PDGFRA
6
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9.1PDGFRA, KIT
7
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9.1KIT, PDGFRA
8
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9.1KIT, PDGFRA
99.1KIT, PDGFRA
10
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9.1PDGFRA, KIT
119.1KIT, PDGFRA
129.1KIT, PDGFRA

Compounds for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

Sources:
45Novoseek, 11DrugBank, 50PharmGKB
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Compounds related to Gastrointestinal Stromal Tumor, Somatic according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1pkc 412459.4KIT, PDGFRA
2ag-1296459.4KIT, PDGFRA
3Pazopanib119.3PDGFRA, KIT
4Ponatinib 119.3KIT, PDGFRA
5Regorafenib119.3KIT, PDGFRA
6sunitinib45 50 1111.2PDGFRA, KIT
7hydroxyurea45 50 1111.2KIT, PDGFRA
8imatinib45 50 1111.1KIT, PDGFRA
9paraffin459.1KIT, PDGFRA
10phosphotyrosine459.0PDGFRA, KIT
11rapamycin458.8KIT, PDGFRA

GO Terms for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

Sources:
16Gene Ontology
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Cellular components related to Gastrointestinal Stromal Tumor, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.1KIT, PDGFRA

Biological processes related to Gastrointestinal Stromal Tumor, Somatic according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase C activityGO:0108639.4KIT, PDGFRA
2cell chemotaxisGO:0603269.4KIT, PDGFRA
3positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.4KIT, PDGFRA
4positive regulation of phosphatidylinositol 3-kinase cascadeGO:0140689.3PDGFRA, KIT
5peptidyl-tyrosine phosphorylationGO:0181089.3KIT, PDGFRA
6phosphatidylinositol-mediated signalingGO:0480159.3KIT, PDGFRA
7protein autophosphorylationGO:0467779.2PDGFRA, KIT
8fibroblast growth factor receptor signaling pathwayGO:0085439.2KIT, PDGFRA
9Fc-epsilon receptor signaling pathwayGO:0380959.1KIT, PDGFRA
10positive regulation of cell proliferationGO:0082849.1KIT, PDGFRA
11epidermal growth factor receptor signaling pathwayGO:0071739.0PDGFRA, KIT
12neurotrophin TRK receptor signaling pathwayGO:0480118.8KIT, PDGFRA

Molecular functions related to Gastrointestinal Stromal Tumor, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein tyrosine kinase activityGO:0047149.1KIT, PDGFRA

Products for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gastrointestinal Stromal Tumor, Somatic

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet