MCID: GST061
MIFTS: 26

Gastrointestinal Stromal Tumor, Somatic malady

Genetic diseases (common), Gastrointestinal diseases, Cancer diseases categories
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Summaries for Gastrointestinal Stromal Tumor, Somatic

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47OMIM, 33MalaCards
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MalaCards: Gastrointestinal Stromal Tumor, Somatic is related to myelofibrosis and mesenchymal cell neoplasm. An important gene associated with Gastrointestinal Stromal Tumor, Somatic is PDGFRA (platelet-derived growth factor receptor, alpha polypeptide), and among its related pathways are Activation of cAMP-Dependent PKA and TGF-Beta Pathway. 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

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47OMIM
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Classifications:



Aliases & Descriptions:

gastrointestinal stromal tumor, somatic 47


Related Diseases for Gastrointestinal Stromal Tumor, Somatic

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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

Symptoms for Gastrointestinal Stromal Tumor, Somatic

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47OMIM
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Clinical features from OMIM:

606764

Drugs & Therapeutics for Gastrointestinal Stromal Tumor, Somatic

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Gastrointestinal Stromal Tumor, Somatic

Search NIH Clinical Center for Gastrointestinal Stromal Tumor, Somatic

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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37MGI
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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

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Variations for Gastrointestinal Stromal Tumor, Somatic

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Gastrointestinal Stromal Tumor, Somatic:

64
id Symbol AA change Variation ID SNP ID
1KITp.Lys550IleVAR_033123rs28933968
2KITp.Val559AlaVAR_033126
3KITp.Val559AspVAR_033127
4PDGFRAp.Tyr849CysVAR_066474

Clinvar genetic disease variations for Gastrointestinal Stromal Tumor, Somatic:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1SDHBNM_003000.2(SDHB): c.725G> A (p.Arg242His)single nucleotide variantPathogenicrs74315368GRCh37Chr 1, 17349143: 17349143
2PDGFRANM_006206.4(PDGFRA): c.2525A> T (p.Asp842Val)single nucleotide variantPathogenicrs121908585GRCh37Chr 4, 55152093: 55152093
3PDGFRAPDGFRA, 4-CODON DEL, 842DIMHdeletionPathogenic
4PDGFRAPDGFRA, 4-CODON DEL, 845HDSNdeletionPathogenic
5PDGFRANM_006206.4(PDGFRA): c.1682T> A (p.Val561Asp)single nucleotide variantPathogenicrs121908586GRCh37Chr 4, 55141036: 55141036
6PDGFRAPDGFRA, 2-CODON INS, 561ERinsertionPathogenic
7PDGFRAPDGFRA, 5-CODON DEL, 560RVIESdeletionPathogenic
8PDGFRAPDGFRA, 6-CODON DEL, 566SPDGHEdeletionPathogenic
9KITKIT, 6-BP DELdeletionPathogenic
10KITKIT, 15-BP DELdeletionPathogenic
11KITKIT, 15-BP DEL/LYS550ILEdeletionPathogenic
12KITNM_000222.2(KIT): c.1676T> A (p.Val559Asp)single nucleotide variantPathogenicrs121913517GRCh37Chr 4, 55593610: 55593610
13KITKIT, 27-BP DELdeletionPathogenic
14SDHCNM_003001.3(SDHC): c.405+1G> Asingle nucleotide variantPathogenicGRCh37Chr 1, 161326631: 161326631

Expression for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

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2BioGPS, 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:
50PathCards, 53QIAGEN, 55Reactome, 30KEGG, 60Thomson Reuters, 5Cell Signaling Technology, 51PharmGKB, 61Tocris Bioscience, 38NCBI BioSystems Database
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Pathways related to Gastrointestinal Stromal Tumor, Somatic according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1KIT, PDGFRA
2
Show member pathways
9.1KIT, PDGFRA
3
Show member pathways
9.1PDGFRA, KIT
4
Show member pathways
9.1PDGFRA, KIT
5
Show member pathways
9.1KIT, PDGFRA
6
Show member pathways
9.1PDGFRA, KIT
7
Show member pathways
9.1PDGFRA, KIT
8
Show member pathways
9.1KIT, PDGFRA
9
Show member pathways
9.1KIT, PDGFRA
10
Show member pathways
9.1PDGFRA, KIT
11
Show member pathways
9.1KIT, PDGFRA
12
Show member pathways
9.1PDGFRA, KIT
13
Show member pathways
9.1KIT, PDGFRA
14
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
9.1KIT, PDGFRA
159.1PDGFRA, KIT
169.1KIT, PDGFRA
17
Show member pathways
9.1KIT, PDGFRA
18
Show member pathways
9.1KIT, PDGFRA
19
Show member pathways
9.1PDGFRA, KIT
209.1KIT, PDGFRA
219.1PDGFRA, KIT
22
Show member pathways
9.1KIT, PDGFRA
23
Show member pathways
9.1KIT, PDGFRA
249.1KIT, PDGFRA

Compounds for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

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45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Gastrointestinal Stromal Tumor, Somatic according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1pkc 412459.4KIT, PDGFRA
2ag-1296459.4KIT, PDGFRA
3pazopanib51 1110.4KIT, PDGFRA
4ponatinib51 1110.4PDGFRA, KIT
5sunitinib45 51 1111.4KIT, PDGFRA
6regorafenib51 1110.4KIT, PDGFRA
7hydroxyurea45 51 1111.3KIT, PDGFRA
8imatinib45 51 1111.3PDGFRA, KIT
9phosphotyrosine459.3KIT, PDGFRA
10rapamycin459.2KIT, PDGFRA
11paraffin459.2KIT, PDGFRA
12thymidine45 2410.1PDGFRA, KIT
13vegf459.1KIT, PDGFRA
14aspartate459.0KIT, PDGFRA
15oligonucleotide458.8KIT, 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 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase C activityGO:0108639.4KIT, PDGFRA
2positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.4KIT, PDGFRA
3cell chemotaxisGO:0603269.4KIT, PDGFRA
4positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.4PDGFRA, KIT
5peptidyl-tyrosine phosphorylationGO:0181089.4KIT, PDGFRA
6positive regulation of cell migrationGO:0303359.3KIT, PDGFRA
7phosphatidylinositol-mediated signalingGO:0480159.3KIT, PDGFRA
8protein autophosphorylationGO:0467779.3PDGFRA, KIT
9fibroblast growth factor receptor signaling pathwayGO:0085439.2KIT, PDGFRA
10Fc-epsilon receptor signaling pathwayGO:0380959.2KIT, PDGFRA
11epidermal growth factor receptor signaling pathwayGO:0071739.1PDGFRA, KIT
12innate immune responseGO:0450879.1KIT, PDGFRA
13neurotrophin TRK receptor signaling pathwayGO:0480119.0KIT, PDGFRA
14positive regulation of cell proliferationGO:0082848.8KIT, PDGFRA

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

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428039.1KIT, PDGFRA
2transmembrane receptor protein tyrosine kinase activityGO:0047148.8KIT, PDGFRA

Products for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

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Sources for Gastrointestinal Stromal Tumor, Somatic

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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