MCID: GST061
MIFTS: 28

Gastrointestinal Stromal Tumor, Somatic malady

Genetic diseases (common), Gastrointestinal diseases, Cancer diseases categories

Summaries for Gastrointestinal Stromal Tumor, Somatic

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MalaCards based summary: Gastrointestinal Stromal Tumor, Somatic is related to myelofibrosis and gastrointestinal stromal tumor. An important gene associated with Gastrointestinal Stromal Tumor, Somatic is PDGFRA (platelet-derived growth factor receptor, alpha polypeptide), and among its related pathways are Cardiac Progenitor Differentiation and Development Angiotensin activation of ERK. The compounds pkc 412 and ag-1296 have been mentioned in the context of this disorder. Related mouse phenotype no phenotypic analysis.

Description from OMIM:46 606764

Aliases & Classifications for Gastrointestinal Stromal Tumor, Somatic

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Gastrointestinal Stromal Tumor, Somatic, Aliases & Descriptions:

Name: Gastrointestinal Stromal Tumor, Somatic 46


Classifications:



Related Diseases for Gastrointestinal Stromal Tumor, Somatic

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Diseases related to Gastrointestinal Stromal Tumor, Somatic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1myelofibrosis10.4PDGFRA
2gastrointestinal stromal tumor10.1PDGFRA, KIT
3mesenchymal cell neoplasm10.1KIT, PDGFRA
4desmoid tumor10.1KIT, PDGFRA
5piebaldism10.1PDGFRA, KIT
6systemic mastocytosis10.1KIT, PDGFRA
7endometrial stromal sarcoma10.1PDGFRA, KIT
8hypereosinophilic syndrome10.1KIT, PDGFRA
9pdgfrb-associated chronic eosinophilic leukemia10.1PDGFRA, KIT
10mastocytosis10.1KIT, PDGFRA
11malignant peripheral nerve sheath tumor10.1PDGFRA, KIT
12neurofibroma10.1KIT, PDGFRA
13polycythemia vera10.1KIT, PDGFRA
14leiomyosarcoma10.1KIT, PDGFRA
15neurilemmoma10.1KIT, PDGFRA
16paraganglioma and gastric stromal sarcoma10.1SDHC, SDHB
17carotid body tumor10.1SDHC, SDHB
18seminoma10.1KIT, PDGFRA
19hereditary paraganglioma-pheochromocytoma syndromes10.1SDHB, SDHC
20bone marrow cancer10.0KIT, PDGFRA
21phaeochromocytoma10.0SDHC, SDHB
22multiple endocrine neoplasia type 2a10.0SDHC, SDHB
23von hippel-lindau disease10.0SDHB, SDHC
24leiomyoma10.0KIT, PDGFRA
25multiple endocrine neoplasia10.0SDHC, SDHB
26wermer syndrome10.0SDHB, SDHC
27peripheral primitive neuroectodermal tumor10.0PDGFRA, KIT
28hyperparathyroidism10.0SDHC, SDHB
29adrenal cortical adenoma10.0SDHC, SDHB
30embryonal cancer10.0KIT, PDGFRA
31hemangioma10.0SDHB, SDHC
32myelodysplastic syndromes10.0KIT, PDGFRA
33lung small cell carcinoma10.0KIT, PDGFRA
34chondroma9.8PDGFRA, SDHC, SDHB
35neurofibromatosis9.8SDHB, SDHC, PDGFRA
36chronic myeloid leukemia9.8PDGFRA, KIT
37pheochromocytoma9.8SDHC, SDHB
38paraganglioma9.8KIT, SDHC, SDHB
39carney triad9.6KIT, PDGFRA, SDHC, SDHB
40kidney cancer9.6KIT, PDGFRA, SDHC, SDHB

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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Clinical features from OMIM:

606764

Drugs & Therapeutics for Gastrointestinal Stromal Tumor, Somatic

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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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MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor, Somatic:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.8KIT, PDGFRA, SDHB

Publications for Gastrointestinal Stromal Tumor, Somatic

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Variations for Gastrointestinal Stromal Tumor, Somatic

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UniProtKB/Swiss-Prot genetic disease variations for Gastrointestinal Stromal Tumor, Somatic:

63
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:

7 (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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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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Pathways related to Gastrointestinal Stromal Tumor, Somatic according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3KIT, PDGFRA
2
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
9.3KIT, PDGFRA
39.3KIT, PDGFRA
4
Show member pathways
9.3KIT, PDGFRA
5
Show member pathways
9.3KIT, PDGFRA
69.3KIT, PDGFRA
7
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.1SDHB, SDHC
8
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
9.1SDHC, SDHB
9
Show member pathways
Alzheimers Disease37
9.1SDHC, SDHB

Compounds for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

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Sources:
44Novoseek, 50PharmGKB, 12DrugBank, 25HMDB, 29IUPHAR
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Compounds related to Gastrointestinal Stromal Tumor, Somatic according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1pkc 412449.7PDGFRA, KIT
2ag-1296449.7KIT, PDGFRA
3pazopanib50 1210.7KIT, PDGFRA
4ponatinib50 1210.6KIT, PDGFRA
5sunitinib44 50 1211.6KIT, PDGFRA
6regorafenib50 1210.6PDGFRA, KIT
7Fumaric acid259.5SDHC, SDHB
8fumarate44 1210.5SDHB, SDHC
9iron-sulfur449.4SDHC, SDHB
10succinic acid29 25 1211.4SDHC, SDHB
11hydroxyurea44 50 1211.4KIT, PDGFRA
12ubiquinone449.4SDHB, SDHC
13Sulfide259.4SDHC, SDHB
14QH2259.3SDHB, SDHC
15Ubiquinone Q2259.3SDHC, SDHB
16Ubiquinone Q1259.3SDHC, SDHB
17succinate449.2SDHB, SDHC
18FAD259.1SDHC, SDHB
19aspartate449.0KIT, PDGFRA, SDHB
20imatinib44 50 1211.0KIT, PDGFRA
21atp44 299.7SDHB, PDGFRA, KIT
22retinoic acid44 259.5KIT, PDGFRA, SDHC
23vegf448.3KIT, PDGFRA, SDHC, SDHB

GO Terms for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

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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:0098979.3KIT, PDGFRA
2mitochondrial respiratory chain complex IIGO:0057498.8SDHC, SDHB

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase C activityGO:0108639.6KIT, PDGFRA
2positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.6KIT, PDGFRA
3cell chemotaxisGO:0603269.6KIT, PDGFRA
4positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.6KIT, PDGFRA
5peptidyl-tyrosine phosphorylationGO:0181089.5PDGFRA, KIT
6positive regulation of cell migrationGO:0303359.4KIT, PDGFRA
7aerobic respirationGO:0090609.4SDHC, SDHB
8phosphatidylinositol-mediated signalingGO:0480159.4KIT, PDGFRA
9tricarboxylic acid cycleGO:0060999.4SDHB, SDHC
10protein autophosphorylationGO:0467779.3PDGFRA, KIT
11epidermal growth factor receptor signaling pathwayGO:0071739.3KIT, PDGFRA
12respiratory electron transport chainGO:0229049.3SDHC, SDHB
13cellular metabolic processGO:0442379.3SDHC, SDHB
14fibroblast growth factor receptor signaling pathwayGO:0085439.2KIT, PDGFRA
15Fc-epsilon receptor signaling pathwayGO:0380959.0KIT, PDGFRA

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

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:0090559.1SDHC, SDHB
2transmembrane receptor protein tyrosine kinase activityGO:0047149.0KIT, PDGFRA

Products for genes affiliated with Gastrointestinal Stromal Tumor, Somatic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Gastrointestinal Stromal Tumor, Somatic

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet