MCID: GST061
MIFTS: 26

Gastrointestinal Stromal Tumor, Somatic malady

Gastrointestinal diseases, Cancer diseases categories

Summaries for Gastrointestinal Stromal Tumor, Somatic

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46OMIM, 32MalaCards
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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:46 606764

Aliases & Classifications for Gastrointestinal Stromal Tumor, Somatic

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46OMIM
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Classifications:

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


Aliases & Descriptions:

gastrointestinal stromal tumor, somatic 46


Related Diseases for Gastrointestinal Stromal Tumor, Somatic

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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

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46OMIM
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Clinical features from OMIM:

606764

Drugs & Therapeutics for Gastrointestinal Stromal Tumor, Somatic

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Gastrointestinal Stromal Tumor, Somatic

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Anatomical Context for Gastrointestinal Stromal Tumor, Somatic

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Animal Models for Gastrointestinal Stromal Tumor, Somatic or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor, Somatic:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1KIT, PDGFRA

Publications for Gastrointestinal Stromal Tumor, Somatic

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Genetic Variations for Gastrointestinal Stromal Tumor, Somatic

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Gastrointestinal Stromal Tumor, Somatic:

62
id Symbol AA change Variation ID SNP ID
1KITp.Lys550IleVAR_033123rs28933968
2KITp.Val559AlaVAR_033126
3KITp.Val559AspVAR_033127
4PDGFRAp.Tyr849CysVAR_066474

Expression for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

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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

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Sources:
29KEGG, 51QIAGEN, 53Reactome, 49PharmGKB, 4Cell Signaling Technology, 37NCBI 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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9.1PDGFRA, KIT
39.1PDGFRA, KIT
4
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9.1PDGFRA, KIT
5
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9.1KIT, PDGFRA
6
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9.1PDGFRA, KIT
7
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9.1PDGFRA, KIT
8
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9.1PDGFRA, KIT
99.1PDGFRA, KIT
10
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9.1PDGFRA, KIT
119.1PDGFRA, KIT
129.1KIT, PDGFRA

Compounds for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB
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Compounds related to Gastrointestinal Stromal Tumor, Somatic according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1pkc 412449.4PDGFRA, KIT
2ag-1296449.4PDGFRA, KIT
3Pazopanib119.3KIT, PDGFRA
4Ponatinib 119.3KIT, PDGFRA
5Regorafenib119.3PDGFRA, KIT
6sunitinib44 49 1111.2PDGFRA, KIT
7hydroxyurea44 49 1111.2PDGFRA, KIT
8imatinib44 49 1111.1PDGFRA, KIT
9paraffin449.1PDGFRA, KIT
10phosphotyrosine449.0KIT, PDGFRA
11rapamycin448.8KIT, PDGFRA

GO Terms for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

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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:0108639.4PDGFRA, KIT
2cell chemotaxisGO:0603269.4PDGFRA, KIT
3positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.4KIT, PDGFRA
4positive regulation of phosphatidylinositol 3-kinase cascadeGO:0140689.3KIT, PDGFRA
5peptidyl-tyrosine phosphorylationGO:0181089.3PDGFRA, KIT
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:0380959.1PDGFRA, KIT
10positive regulation of cell proliferationGO:0082849.1PDGFRA, KIT
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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gastrointestinal Stromal Tumor, Somatic

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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