Gastrointestinal Stromal Tumor disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: GST019 MIFTS: 73	Gastrointestinal Stromal Tumor Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases
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Aliases & Classifications for Gastrointestinal Stromal Tumor

MalaCards integrated aliases for Gastrointestinal Stromal Tumor:

Name: Gastrointestinal Stromal Tumor ⁵⁷ ¹² ²⁵ ⁵⁹ ⁷⁵ ¹³ ⁵⁵ ¹⁵

Gist ⁵⁷ ¹² ⁵³ ²⁵ ⁵⁹ ⁷⁵

Gastrointestinal Stromal Sarcoma ⁵³ ²⁵ ⁵⁹ ⁷³

Gastrointestinal Stromal Tumors ⁵³ ⁴⁴ ⁷³

Gastrointestinal Stromal Tumor, Familial ⁵⁷ ⁶

Paraganglioma and Gastric Stromal Sarcoma ⁷³

Gastrointestinal Stromal Tumor, Somatic ⁵⁷

Stromal Tumor of Gastrointestinal Tract ¹²

Gastrointestinal Stromal Neoplasm ²⁵

Cancer, Gastrointestinal Stromal ⁴⁰

Plexosarcoma ⁷³

Gant ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁹

gastrointestinal stromal tumor
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Sweden); Age of onset: Adolescent,Adult,Childhood;

OMIM:

⁵⁷

Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
tumors usually develop between 40 and 60 years of age
both germline (familial) and somatic (sporadic) mutation in kit and pdgfra have been found

HPO:

³²

gastrointestinal stromal tumor:
Inheritance autosomal dominant inheritance sporadic

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Gastrointestinal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Neoplasms

Malignant neoplasms of digestive organs

Malignant neoplasm of other and ill-defined digestive organs

Malignant neoplasm: Ill-defined sites within the digestive system

Orphanet: ⁵⁹

Rare gastroenterological diseases

External Ids:

OMIM ⁵⁷ 606764

Disease Ontology ¹² DOID:9253

MeSH ⁴⁴ D046152

NCIt ⁵⁰ C3868

SNOMED-CT ⁶⁸ 128755003 420120006

Orphanet ⁵⁹ ORPHA44890

MESH via Orphanet ⁴⁵ D046152

UMLS via Orphanet ⁷⁴ C0238198 C3179349

ICD10 via Orphanet ³⁴ C26.9

MedGen ⁴² C0238198

UMLS ⁷³ C0238198 C1847319 C2931518 more

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Summaries for Gastrointestinal Stromal Tumor

NIH Rare Diseases : ⁵³ Gastrointestinal stromal tumors (GIST) are a type of soft tissue tumor that usually begin in specialized nerve cells in the wall of the stomach, intestines, or rectum, known as interstitial cells of Cajal. GIST may be noncancerous (benign) or cancerous (malignant). If cancerous, the tumor may also be called a soft tissue sarcoma. Symptoms depend on the location, size, and aggressiveness of the tumors, but may include vomiting of blood, bloody or tarry bowel movements, or anemia caused by chronic bleeding. Other symptoms may include painful and swollen abdomen, appendicitis-like pain, or complications due to gastrointestinal obstruction or tumor rupture. GIST may only affect one member of a family (not inherited) or several family members (familial or inherited). The risk of GIST is increased in people who have a certain variations (mutations) in the KIT gene, PDGFRA genes, and possibly a few other genes. Disease-causing variations in these same genes are also involved in the non-inherited form of GIST, but the genetic variation occurs accidentally during a person's life time (acquired) rather than being passed down from one or both parents. Familial GIST, which usually involves more than one tumor, may follow an autosomal dominant or autosomal recessive inheritance pattern depending on the genetic variation. Treatment may include surgery to remove the tumors, and/or medication with tyrosine kinase inhibitors (TKI) depending on the extent of disease and tumor sensitivity to TKI. In very rare cases GIST may be part of a genetic syndrome, such as Neurofibromatosis type 1 (NF1) and Carney triad. The prognosis depends on the severity, size, location of the tumor and whether the tumor is cancerous, can be removed by surgery, or if it has spread to other parts of the body (metastasized).

MalaCards based summary : Gastrointestinal Stromal Tumor, also known as gist, is related to desmoid tumor and carney triad. An important gene associated with Gastrointestinal Stromal Tumor is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are ERK Signaling and Activation of cAMP-Dependent PKA. The drugs Gleevec and Stivarga have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and endothelial, and related phenotypes are skin rash and abnormality of the liver

Genetics Home Reference : ²⁵ A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. The tumors are thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. GISTs are usually found in adults between ages 40 and 70; rarely, children and young adults develop these tumors. The tumors can be cancerous (malignant) or noncancerous (benign).

OMIM : ⁵⁷ Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (17,18:Miettinen et al., 1999, 1999). GISTs can also be seen in neurofibromatosis-1 (NF1; 162200) due to mutations in the NF1 gene, and are thus distinct from the GISTs described here. Sandberg and Bridge (2002) reviewed the cytogenetics and molecular genetics of gastrointestinal stromal tumors. Coffey et al. (2007) reviewed the clinical features, pathogenesis, and molecular treatments of Menetrier disease (137280) and GIST, both of which are hyperproliferative disorders of the stomach caused by dysregulated receptor tyrosine kinases. (606764)

UniProtKB/Swiss-Prot : ⁷⁵ Gastrointestinal stromal tumor: Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery.

Wikipedia : ⁷⁶ Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the... more...

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Related Diseases for Gastrointestinal Stromal Tumor

Diseases related to Gastrointestinal Stromal Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 293)

#	Related Disease	Score	Top Affiliating Genes
1	desmoid tumor	33.8	KIT PDGFRA PDGFRB
2	carney triad	33.8	KIT PDGFRA SDHA SDHB SDHC
3	neurofibromatosis, type iv, of riccardi	32.2	KIT PDGFRA SDHB SDHC
4	fibromatosis	32.0	ACTC1 DES KIT
5	leiomyoma	32.0	ACTC1 DES KIT
6	adenocarcinoma	31.8	BRAF KIT KRAS NTRK3
7	neurofibroma	31.6	KIT KITLG PDGFRA
8	paraganglioma	31.6	ENO2 SDHA SDHB SDHC
9	perivascular epithelioid cell tumor	31.6	ACTC1 DES KIT
10	leiomyosarcoma	31.5	ACTC1 DES ENO2 KIT PDGFRA PDGFRB
11	malignant peripheral nerve sheath tumor	31.4	ACTC1 KIT PDGFRA
12	chondroma	31.3	ACTC1 SDHB SDHC
13	undifferentiated pleomorphic sarcoma	31.3	KIT KRAS PDGFRA
14	smooth muscle tumor	31.3	ACTC1 DES KIT
15	glomus tumor	31.3	ACTC1 DES ENO2 SDHB
16	dermatofibrosarcoma protuberans	31.2	ACTC1 DES KIT PDGFRA PDGFRB
17	inflammatory myofibroblastic tumor	31.2	ACTC1 DES KIT
18	glomangioma	31.1	ACTC1 DES ENO2
19	nondisjunction	31.1	KIT MTHFR
20	sarcoma	31.0	BRAF HOTAIR KIT KRAS
21	gastric adenocarcinoma	30.4	BRAF HOTAIR KIT KRAS
22	renal cell carcinoma, nonpapillary	30.4	HOTAIR KIT PDGFRB SDHB
23	myelodysplastic syndrome	30.4	ABL1 KIT KITLG KRAS PDGFRB
24	pheochromocytoma	30.3	ENO2 MEN1 SDHA SDHB SDHC
25	ewing sarcoma	30.3	DES ENO2 ETV1 KIT KITLG PDGFRA
26	multiple endocrine neoplasia	30.3	MEN1 SDHB SDHC
27	leukemia, chronic myeloid	29.7	ABL1 HOTAIR KIT KITLG PDGFRA PDGFRB
28	leukemia, acute myeloid	28.8	ABL1 CCDC26 HOTAIR KIT KITLG KRAS
29	paraganglioma and gastric stromal sarcoma	12.0
30	plexosarcoma	11.3
31	ovarian fibrothecoma	11.2	ACTC1 DES KIT
32	reticular perineurioma	11.2	KIT PDGFRA
33	cystic nephroma	11.2	ACTC1 DES KIT
34	neural crest tumor	11.2	SDHA SDHB SDHC
35	fibroblastic rheumatism	11.2	ACTC1 DES
36	primary hypereosinophilic syndrome	11.2	PDGFRA PDGFRB
37	lung adenoid cystic carcinoma	11.2	KIT KRAS PDGFRA
38	hypereosinophilic syndrome, idiopathic	11.2	KIT PDGFRA PDGFRB
39	persistent generalized lymphadenopathy	11.2	SDHA SDHB SDHC
40	angiolipoma	11.2	ACTC1 DES
41	angiomyolipoma	11.2	ACTC1 DES KIT
42	gastric leiomyosarcoma	11.2	ENO2 KIT PDGFRA
43	conventional fibrosarcoma	11.2	ENO2 KIT PDGFRA
44	endometrial small cell carcinoma	11.2	ENO2 KIT PDGFRA
45	non-langerhans-cell histiocytosis	11.2	ACTC1 BRAF DES
46	pulmonary vein stenosis	11.1	ACTC1 DES KIT PDGFRA
47	fibrosarcoma of bone	11.1	KIT PDGFRA PDGFRB
48	cutaneous leiomyosarcoma	11.1	ACTC1 DES
49	lymph node disease	11.1	SDHA SDHB SDHC
50	gallbladder sarcoma	11.1	DES KIT

Graphical network of the top 20 diseases related to Gastrointestinal Stromal Tumor:

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Symptoms & Phenotypes for Gastrointestinal Stromal Tumor

Symptoms via clinical synopsis from OMIM:

⁵⁷

Abdomen Gastrointestinal:
dysphagia
intestinal obstruction
gastrointestinal stromal tumors
pathology resembles neurofibromas
hyperplasia of the myenteric plexus
more

Skin Nails Hair Skin:
hyperpigmentation (in patients with kit mutations)
urticaria pigmentosa or cutaneous mastocytosis (in patients with kit mutations)

Skeletal Hands:
large hands (in patients with pdgfra mutations)

Clinical features from OMIM:

606764

Human phenotypes related to Gastrointestinal Stromal Tumor:

⁵⁹ ³² (show all 22)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	skin rash ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000988
2	abnormality of the liver ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001392
3	anemia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001903
4	dysphagia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002015
5	nausea and vomiting ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002017
6	constipation ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002019
7	gastrointestinal hemorrhage ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002239
8	intestinal obstruction ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0005214
9	neoplasm of the stomach ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006753
10	irregular hyperpigmentation ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0007400
11	fatigue ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0012378
12	sarcoma ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0100242
13	neoplasm of the colon ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100273
14	gastrointestinal stroma tumor ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0100723
15	neoplasm of the rectum ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100743
16	esophageal neoplasm ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100751
17	neoplasm of the small intestine ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100833
18	neoplasm of the gastrointestinal tract ⁵⁹		Occasional (29-5%)
19	hyperpigmentation of the skin ³²			HP:0000953
20	urticaria ³²			HP:0001025
21	neurofibromas ³²			HP:0001067
22	large hands ³²			HP:0001176

GenomeRNAi Phenotypes related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

²⁶ (show all 20)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-2	10.63	BRAF KRAS
2	Decreased viability	GR00106-A-0	10.63	KRAS
3	Decreased viability	GR00107-A-1	10.63	PRKCQ
4	Decreased viability	GR00173-A	10.63	PRKCQ PDGFRA
5	Decreased viability	GR00221-A-1	10.63	PRKCQ KRAS PDGFRA PDGFRB ABL1 KIT
6	Decreased viability	GR00221-A-2	10.63	PRKCQ NTRK3 KRAS ABL1
7	Decreased viability	GR00221-A-3	10.63	PRKCQ PDGFRA PDGFRB ABL1
8	Decreased viability	GR00221-A-4	10.63	PRKCQ BRAF NTRK3 PDGFRA PDGFRB
9	Decreased viability	GR00301-A	10.63	BRAF KRAS KIT
10	Decreased viability	GR00342-S-1	10.63	PDGFRB ABL1
11	Decreased viability	GR00342-S-2	10.63	ABL1
12	Decreased viability	GR00342-S-3	10.63	ABL1
13	Decreased viability	GR00381-A-1	10.63	BRAF KRAS
14	Decreased viability	GR00402-S-2	10.63	PRKCQ NTRK3 PDGFRA PDGFRB ABL1 KIT
15	Decreased substrate adherent cell growth	GR00193-A-1	9.8	KIT
16	Decreased substrate adherent cell growth	GR00193-A-2	9.8	ABL1 KIT
17	Decreased substrate adherent cell growth	GR00193-A-3	9.8	BRAF
18	Decreased substrate adherent cell growth	GR00193-A-4	9.8	KIT ABL1 BRAF
19	Decreased viability in esophageal squamous lineage	GR00235-A	9.65	ABL1 BRAF DES KIT KRAS MEN1
20	Increased cell viability after pRB stimulation	GR00230-A-1	8.92	ABL1 KIT PDGFRB PRKCQ

MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor:

⁴⁶ (show all 19)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	10.42	PRKCQ SDHA SDHB SDHC ABL1 ACTC1
2	cardiovascular system	MP:0005385	10.4	ABL1 ACTC1 BRAF DES KIT KITLG
3	cellular	MP:0005384	10.39	KIT KITLG KRAS MEN1 PDGFRA PDGFRB
4	homeostasis/metabolism	MP:0005376	10.39	ABL1 ACTC1 BRAF DES KIT KITLG
5	growth/size/body region	MP:0005378	10.37	ETV1 KIT KITLG KRAS MEN1 MTHFR
6	nervous system	MP:0003631	10.25	ABL1 BRAF ENO2 ETV1 KIT KITLG
7	endocrine/exocrine gland	MP:0005379	10.24	PRKCQ SDHB ABL1 BRAF KIT KITLG
8	craniofacial	MP:0005382	10.22	ABL1 BRAF ENO2 KIT KITLG KRAS
9	muscle	MP:0005369	10.22	ABL1 ACTC1 BRAF DES ETV1 KIT
10	digestive/alimentary	MP:0005381	10.21	ABL1 BRAF KIT KITLG KRAS MEN1
11	embryo	MP:0005380	10.15	ABL1 BRAF KIT KITLG KRAS MEN1
12	normal	MP:0002873	10.07	KIT KRAS NTRK3 PDGFRA PDGFRB SDHB
13	neoplasm	MP:0002006	10.06	BRAF KIT KITLG KRAS MEN1 PDGFRA
14	no phenotypic analysis	MP:0003012	9.95	KIT KRAS MTHFR NTRK3 PDGFRA PRKCQ
15	reproductive system	MP:0005389	9.91	BRAF KIT KITLG KRAS MEN1 MTHFR
16	pigmentation	MP:0001186	9.8	BRAF KIT KITLG KRAS PDGFRA PRKCQ
17	respiratory system	MP:0005388	9.76	ABL1 BRAF ENO2 KIT KRAS NTRK3
18	skeleton	MP:0005390	9.61	ABL1 BRAF KIT KITLG KRAS MTHFR
19	vision/eye	MP:0005391	9.28	ABL1 BRAF KIT KITLG KRAS MTHFR

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Drugs & Therapeutics for Gastrointestinal Stromal Tumor

FDA approved drugs:

#	Drug Name	Active Ingredient(s) ¹⁸	Company	Approval Date
1	Gleevec ¹⁸ ⁴⁹	IMATINIB MESYLATE	Novartis	May 2001
FDA Label: Gleevec Disease/s that Drug Treats:chronic myeloid leukemia/Gastrointestinal stromal tumors (GISTs) Indications and Usage: ¹⁸ Gleevecâ¢ (imatinib mesylate) is indicated for the treatment of newly diagnosed adultpatients with Philadelphia chromosome positive chronic myeloid leukemia (CML) in chronicphase. Follow-up is limited. Page 10Gleevec is also indicated for the treatment of patients with Philadelphia chromosomepositive chronic myeloid leukemia (CML) in blast crisis, accelerated phase, or in chronicphase after failure of interferon-alpha therapy. Gleevec is also indicated for the treatment ofpediatric patients with Ph+ chronic phase CML whose disease has recurred after stem celltransplant or who are resistant to interferon alpha therapy. There are no controlled trialsdemonstrating a clinical benefit, such as improvement in disease-related symptoms orincreased survival.Gleevec is also indicated for the treatment of patients with Kit (CD117) positiveunresectable and/or metastatic malignant gastrointestinal stromal tumors (GIST). (SeeCLINICAL STUDIES: Gastrointestinal Stromal Tumors.) The effectiveness of Gleevec inGIST is based on objective response rate (see CLINICAL STUDIES). There are no controlledtrials demonstrating a clinical benefit, such as improvement in disease-related symptoms orincreased survival. DrugBank Targets: ¹⁶ 1. BCR/ABL fusion protein isoform X9;2. Mast/stem cell growth factor receptor Kit;3. RET proto-oncogene;4. High affinity nerve growth factor receptor;5. Macrophage colony-stimulating factor 1 receptor;6. Platelet-derived growth factor receptor alpha;7. Epithelial discoidin domain-containing receptor 1;8. Tyrosine-protein kinase ABL1;9. Platelet-derived growth factor receptor beta Mechanism of Action: ¹⁸ Target: protein-tyrosine kinase Action: inhibitor FDA: Imatinib mesylate is a protein-tyrosine kinase inhibitor that inhibits the Bcr-Abl tyrosinekinase, the constitutive abnormal tyrosine kinase created by the Philadelphia chromosomeabnormality in chronic myeloid leukemia (CML). It inhibits proliferation and inducesapoptosis in Bcr-Abl positive cell lines as well as fresh leukemic cells from Philadelphiachromosome positive chronic myeloid leukemia. In colony formation assays using ex vivoperipheral blood and bone marrow samples, imatinib shows inhibition of Bcr-Abl positivecolonies from CML patients.In vivo, it inhibits tumor growth of Bcr-Abl transfected murine myeloid cells as wellas Bcr-Abl positive leukemia lines derived from CML patients in blast crisis.Imatinib is also an inhibitor of the receptor tyrosine kinases for platelet-derivedgrowth factor (PDGF) and stem cell factor (SCF), c-kit, and inhibits PDGF- andSCF-mediated cellular events. In vitro, imatinib inhibits proliferation and induces apoptosis ingastrointestinal stromal tumor (GIST) cells, which express an activating c-kit mutation.
2	Stivarga ¹⁸ ⁴⁹	REGORAFENIB	Bayer/ Bayer HealthCare Pharmaceuticals	February 2013/ September 2012
FDA Label: Stivarga Disease/s that Drug Treats:gastrointestinal stromal tumor/ metastatic colorectal cancer Indications and Usage: ¹⁸ Stivarga is a kinase inhibitor indicated for the treatment of patients with: Metastatic colorectal cancer (CRC) who have been previously treated withfluoropyrimidine-, oxaliplatin- and irinotecan-based chemotherapy, an antiVEGFtherapy, and, if KRAS wild type, an anti-EGFR therapy. (1.1) Locally advanced, unresectable or metastatic gastrointestinal stromal tumor(GIST) who have been previously treated with imatinib mesylate andsunitinib malate. (1.2) DrugBank Targets: ¹⁶ 1. Proto-oncogene tyrosine-protein kinase receptor Ret;2. Vascular endothelial growth factor receptor 1;3. Vascular endothelial growth factor receptor 2;4. Vascular endothelial growth factor receptor 3;5. Mast/stem cell growth factor receptor Kit;6. Platelet-derived growth factor receptor alpha;7. Platelet-derived growth factor receptor beta;8. Fibroblast growth factor receptor 1;9. Fibroblast growth factor receptor 2;10. Angiopoietin-1 receptor;11. Discoidin domain-containing receptor 2;12. High affinity nerve growth factor receptor;13. Ephrin type-A receptor 2;14. RAF proto-oncogene serine/threonine-protein kinase;15. Serine/threonine-protein kinase B-raf;16. Mitogen-activated protein kinase 11;17. Tyrosine-protein kinase FRK;18. Tyrosine-protein kinase ABL1 Mechanism of Action: ¹⁸ Target: RET, VEGFR1, VEGFR2, VEGFR3, KIT, PDGFR-alpha, PDGFR-beta, FGFR1, FGFR2,TIE2, DDR2, TrkA, Eph2A, RAF-1, BRAF, BRAFV600E , SAPK2, PTK5, and Abl kinases Action: inhibitor FDA: Regorafenib is a small molecule inhibitor of multiple membrane-bound and intracellular kinases involved in normalcellular functions and in pathologic processes such as oncogenesis, tumor angiogenesis, and maintenance of the tumormicroenvironment. In in vitro biochemical or cellular assays, regorafenib or its major human active metabolites M-2 andM-5 inhibited the activity of RET, VEGFR1, VEGFR2, VEGFR3, KIT, PDGFR-alpha, PDGFR-beta, FGFR1, FGFR2,TIE2, DDR2, TrkA, Eph2A, RAF-1, BRAF, BRAFV600E , SAPK2, PTK5, and Abl at concentrations of regorafenib thathave been achieved clinically. In in vivo models, regorafenib demonstrated anti-angiogenic activity in a rat tumor model,and inhibition of tumor growth as well as anti-metastatic activity in several mouse xenograft models including some forhuman colorectal carcinoma.
3	Sutent ¹⁸ ⁴⁹	SUNITINIB MALATE	Pfizer	May 2011/ January 2006
FDA Label: Sutent Disease/s that Drug Treats:pancreatic neuroendocrine tumors/ Kidney Cancer/Gastrointestinal Stromal Tumors Indications and Usage: ¹⁸ SUTENT is a kinase inhibitor indicated for the treatment of: Gastrointestinal stromal tumor (GIST) after disease progression on orintolerance to imatinib mesylate. (1.1) Advanced renal cell carcinoma (RCC). (1.2) Progressive, well-differentiated pancreatic neuroendocrine tumors(pNET) in patients with unresectable locally advanced or metastaticdisease. (1.3) DrugBank Targets: ¹⁶ 1. Platelet-derived growth factor receptor beta;2. Vascular endothelial growth factor receptor 1;3. Mast/stem cell growth factor receptor Kit;4. Vascular endothelial growth factor receptor 2;5. Vascular endothelial growth factor receptor 3;6. Receptor-type tyrosine-protein kinase FLT3;7. Macrophage colony-stimulating factor 1 receptor;8. Platelet-derived growth factor receptor alpha Mechanism of Action: ¹⁸ Target: variety of kinases, platelet-derived growth factor receptors (PDGFRÎ± and PDGFRÎ²), vascular endothelial growth factorreceptors (VEGFR1, VEGFR2 and VEGFR3), stem cell factor receptor (KIT), Fms-like tyrosine kinase-3(FLT3), colony stimulating factor receptor Type 1 (CSF-1R), and the glial cell-line derived neurotrophic factorreceptor (RET) Action: inhibitor FDA: Sunitinib is a small molecule that inhibits multiple receptor tyrosine kinases (RTKs), some of which areimplicated in tumor growth, pathologic angiogenesis, and metastatic progression of cancer. Sunitinib wasevaluated for its inhibitory activity against a variety of kinases (>80 kinases) and was identified as an inhibitorof platelet-derived growth factor receptors (PDGFRÎ± and PDGFRÎ²), vascular endothelial growth factorreceptors (VEGFR1, VEGFR2 and VEGFR3), stem cell factor receptor (KIT), Fms-like tyrosine kinase-3(FLT3), colony stimulating factor receptor Type 1 (CSF-1R), and the glial cell-line derived neurotrophic factorreceptor (RET). Sunitinib inhibition of the activity of these RTKs has been demonstrated in biochemical andcellular assays, and inhibition of function has been demonstrated in cell proliferation assays. The primarymetabolite exhibits similar potency compared to sunitinib in biochemical and cellular assays.Sunitinib inhibited the phosphorylation of multiple RTKs (PDGFRï¢, VEGFR2, KIT) in tumor xenograftsexpressing RTK targets in vivo and demonstrated inhibition of tumor growth or tumor regression and/orinhibited metastases in some experimental models of cancer. Sunitinib demonstrated the ability to inhibitgrowth of tumor cells expressing dysregulated target RTKs (PDGFR, RET, or KIT) in vitro and to inhibitPDGFRï¢- and VEGFR2-dependent tumor angiogenesis in vivo.
4	Votrient ¹⁸ ⁴⁹	PAZOPANIB HYDROCHLORIDE	GlaxoSmithKline	April 2012/ October of 2009
FDA Label: Votrient Disease/s that Drug Treats:soft tissue sarcoma/ renal cell carcinoma Indications and Usage: ¹⁸ VOTRIENT is a kinase inhibitor indicated for the treatment of patients with: advanced renal cell carcinoma. (1) advanced soft tissue sarcoma who have received prior chemotherapy. (1)Limitation of Use: The efficacy of VOTRIENT for the treatment of patientswith adipocytic soft tissue sarcoma or gastrointestinal stromal tu mors has notbeen demonstrated. DrugBank Targets: ¹⁶ 1. Vascular endothelial growth factor receptor 1;2. Vascular endothelial growth factor receptor 2;3. Vascular endothelial growth factor receptor 3;4. Platelet-derived growth factor receptor alpha;5. Platelet-derived growth factor receptor beta;6. Mast/stem cell growth factor receptor Kit;7. Fibroblast growth factor receptor 3;8. Tyrosine-protein kinase ITK/TSK;9. Fibroblast growth factor 1;10. SH2B adapter protein 3 Mechanism of Action: ¹⁸ Target: vascular epidermal growth factor receptor (VEGFR) tyrosine kinase Action: inhibitor FDA: Pazopanib is a multi-tyrosine kinase inhibitor of vascular endothelial growth factorreceptor (VEGFR)-1, VEGFR-2, VEGFR-3, platelet-derived growth factor receptor (PDGFR)-Î±and -Î², fibroblast growth factor receptor (FGFR)-1 and -3, cytokine receptor (Kit), interleukin-2receptor-inducible T-cell kinase (Itk), leukocyte-specific protein tyrosine kinase (Lck), andtransmembrane glycoprotein receptor tyrosine kinase (c-Fms). In vitro, pazopanib inhibitedligand-induced autophosphorylation of VEGFR-2, Kit, and PDGFR-Î² receptors. In vivo,pazopanib inhibited VEGF-induced VEGFR-2 phosphorylation in mouse lungs, angiogenesis ina mouse model, and the growth of some human tumor xenografts in mice.

Drugs for Gastrointestinal Stromal Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 169)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Oxaliplatin

Approved, Investigational

Phase 4,Phase 1

61825-94-3

5310940 9887054 43805 6857599

Sunitinib

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

341031-54-7, 557795-19-4

5329102

Everolimus

Approved

Phase 4,Phase 1,Phase 2

159351-69-6

6442177

Sirolimus

Approved, Investigational

Phase 4,Phase 1,Phase 2

53123-88-9

5284616 6436030 46835353

Midazolam

Approved, Illicit

Phase 4,Phase 1

59467-70-8

4192

Esomeprazole

Approved, Investigational

Phase 4

161796-78-7, 119141-88-7

4594 9579578

Caffeine

Approved, Nutraceutical

Phase 4

58-08-2

2519

Angiogenesis Inhibitors

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Angiogenesis Modulating Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Liver Extracts

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Imatinib Mesylate

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

220127-57-1

123596

Protein Kinase Inhibitors

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Anesthetics

Phase 4,Phase 3,Phase 1,Not Applicable

Immunosuppressive Agents

Phase 4,Phase 1,Phase 2

Adjuvants, Anesthesia

Phase 4,Phase 3,Phase 1

Anesthetics, General

Phase 4,Phase 3,Phase 1

Anesthetics, Intravenous

Phase 4,Phase 3,Phase 1

Anti-Anxiety Agents

Phase 4,Phase 1

Central Nervous System Depressants

Phase 4,Phase 3,Phase 1

Central Nervous System Stimulants

Phase 4

Erlotinib Hydrochloride

Phase 4,Phase 1

183319-69-9

176871

GABA Agents

Phase 4,Phase 1

GABA Modulators

Phase 4,Phase 1

Hypnotics and Sedatives

Phase 4,Phase 1

Neurotransmitter Agents

Phase 4,Phase 1

Pharmaceutical Solutions

Phase 4,Phase 3

Phosphodiesterase Inhibitors

Phase 4

Psychotropic Drugs

Phase 4,Phase 1

Purinergic P1 Receptor Antagonists

Phase 4

Tranquilizing Agents

Phase 4,Phase 1

Gastrointestinal Agents

Phase 4,Phase 2

Antacids

Phase 4

Anti-Ulcer Agents

Phase 4

Proton Pump Inhibitors

Phase 4

Cola

Nutraceutical

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Bevacizumab

Approved, Investigational

Phase 3,Phase 2,Phase 1

216974-75-3

Dasatinib

Approved, Investigational

Phase 3,Phase 2,Phase 1,Not Applicable

302962-49-8

3062316

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 3

437-38-7

3345

Formaldehyde

Approved, Vet_approved

Phase 3

50-00-0

712

Menthol

Approved

Phase 3

2216-51-5

16666

Orange

Approved, Nutraceutical

Phase 2, Phase 3

Lactitol

Investigational

Phase 2, Phase 3

585-86-4

3871

Pancreatic Polypeptide

Investigational

Phase 3,Phase 1

59763-91-6

Crenolanib

Investigational

Phase 3,Phase 2

670220-88-9

10366136

Analgesics

Phase 3

Bone Density Conservation Agents

Phase 3

Calcium, Dietary

Phase 3,Phase 1

Analgesics, Opioid

Phase 3

Narcotics

Phase 3

Peripheral Nervous System Agents

Phase 3

Interventional clinical trials:

(show top 50) (show all 274)

#	Name	Status	NCT ID	Phase	Drugs
1	Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors	Unknown status	NCT00777504	Phase 4	usage oral angiogenesis inhibitor;stop oral angiogenesis inhibitor
2	Relationship Between Platinum Levels in the Blood and Neurotoxicity in Patients Who Are Receiving Oxaliplatin for Gastrointestinal Cancer	Unknown status	NCT00274885	Phase 4	oxaliplatin
3	Safety And Efficacy Study Of Sunitinib Malate In Chinese Patients With Imatinib Resistant Or Intolerant Malignant Gastrointestinal Stromal Tumor	Completed	NCT00793871	Phase 4	Sunitinib Malate (SU011248)
4	Post-Marketing Clinical Study of Postoperative Adjuvant Therapy With Imatinib Mesylate in Patients With Gastrointestinal Stromal Tumors (GIST)	Completed	NCT00171977	Phase 4	Imatinib Mesylate
5	Treatment of Patients With Everolimus and Imatinib Mesylate Who Have Progressive Gastro Intestinal Stromal Tumors (GIST) and Are Resistant to Imatinib Mesylate	Completed	NCT00510354	Phase 4	Imatinib mesylate
6	Cytochrom p450 3A4 and 1A2 Phenotyping for the Individualization of Treatment With Sunitinib or Erlotinib in Cancer Patients	Completed	NCT01402089	Phase 4	Sunitinib;Erlotinib;Midazolam;Caffeine
7	The Effects of the Proton Pump Inhibitor Esomeprazole on the Bioavailability of Regorafenib	Recruiting	NCT02800330	Phase 4	Esomeprazole 40mg concomitantly;Esomeprazole 40mg before;Regorafenib 160mg or 120mg
8	Treatment of Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumors in First Line With Nilotinib	Active, not recruiting	NCT00756509	Phase 4	Nilotinib
9	Imatinib Mesylate in Treating Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumor	Unknown status	NCT00685828	Phase 3	imatinib mesylate
10	A Phase 3 Study to Evaluate Efficacy and Safety of Masitinib in Comparison to Imatinib in Patients With Gastro-Intestinal Stromal Tumour in First Line Medical Treatment	Unknown status	NCT00812240	Phase 3	masitinib (AB1010);imatinib
11	A Phase 3 Study to Evaluate Efficacy and Safety of Masitinib in Comparison to Sunitinib in Patients With Gastrointestinal Stromal Tumour After Progression With Imatinib	Unknown status	NCT01694277	Phase 3	Masitinib;Sunitinib
12	Masitinib vs Placebo - Phase III Study to Compare the Efficacy and Safety of Masitinib to Placebo in Patients With Localized, Primary GIST After Complete Surgery and With High Risk of Recurrence	Unknown status	NCT02009423	Phase 3	Masitinib;Placebo
13	Imatinib Mesylate or Observation Only in Treating Patients Who Have Undergone Surgery for Localized Gastrointestinal Stromal Tumor	Completed	NCT00103168	Phase 3	imatinib mesylate
14	Efficacy of Nilotinib in Adult Patients With Gastrointestinal Stromal Tumors Resistant to Imatinib and Sunitinib.	Completed	NCT01289028	Phase 3	Nilotinib
15	Open-label Trial of GlivecWith Unresectable or Metastatic Malignant Gastrointestinal Stromal Tumors	Completed	NCT00293124	Phase 3	Glivec
16	Imatinib Mesylate in Treating Patients With Primary Gastrointestinal Stromal Tumor That Has Been Completely Removed By Surgery	Completed	NCT00041197	Phase 3	imatinib mesylate
17	A Study To Assess The Safety And Efficacy Of SU11248 In Patients With Gastrointestinal Stromal Tumor(GIST)	Completed	NCT00075218	Phase 3	Placebo;SU011248
18	Comparative Bioequivalence Study in Adult Patients Suffering From Chronic Myeloid Leukemia & Gastrointestinal Stromal Tumor Under Fed Conditions	Completed	NCT02103322	Phase 2, Phase 3	Imatinib Mesylate Tablets, 400 mg;Imatinib Mesylate Tablets, 400 mg
19	Detection of CF-DNA in Patients With Gastrointestinal Stromal Tumors (GIST)	Completed	NCT01462994	Phase 3
20	Efficacy and Safety of Nilotinib (AMN107) Compared With Current Treatment Options in Patients With GIST Who Have Failed Both Imatinib and Sunitinib	Completed	NCT00471328	Phase 3	Nilotinib
21	Rechallenge of Imatinib in GIST Having no Effective Treatment	Completed	NCT01151852	Phase 3	Imatinib;Placebo
22	A Study of Nilotinib Versus Imatinib in GIST Patients	Completed	NCT00785785	Phase 3	Nilotinib (AMN107);imatinib (STI571)
23	Prospective Multicentric Randomized Study of Glivec® in Advanced GIST Expressing C-kit: Interruption After 5 Years vs Maintenance	Completed	NCT00367861	Phase 3	interruption of Glivec®
24	Study Comparing 12 Months Versus 36 Months of Imatinib in the Treatment of Gastrointestinal Stromal Tumor (GIST)	Completed	NCT00116935	Phase 3	imatinib mesylate;imatinib;imatinib
25	Caphosol in Oral Mucositis Due to Targeted Therapy	Completed	NCT01265810	Phase 3
26	Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain	Completed	NCT00538850	Phase 3	Fentanyl sublingual spray;Placebo
27	Safety and Efficacy of OP2000 (Deligoparin) in the Treatment of Active Ulcerative Colitis	Completed	NCT00033943	Phase 2, Phase 3	deligoparin
28	L-carnitine vs Placebo for the Treatment of Muscle Cramps After Imatinib in Gastrointestinal Stromal Tumors	Recruiting	NCT03426722	Phase 3	L-carnitine;Placebo
29	Efficiency of Imatinib Treatment Maintenance or Interruption After 3 Years of Adjuvant Treatment in Patients With Gastrointestinal Stromal Tumours (GIST)	Recruiting	NCT02260505	Phase 3	Imatinib maintenance
30	Phase 3 Study of DCC-2618 vs Placebo in Advanced GIST Patients Who Have Been Treated With Prior Anticancer Therapies	Recruiting	NCT03353753	Phase 3	DCC-2618;Placebo Oral Tablet
31	EUS-FNB vs. Single-incision Needle-knife (SINK) Biopsy for Gastrointestinal SELs	Recruiting	NCT02866045	Phase 3
32	(VOYAGER) Study of Avapritinib vs Regorafenib in Patients With Locally Advanced Unresectable or Metastatic GIST	Recruiting	NCT03465722	Phase 3	avapritinib;regorafenib
33	Randomized Trial of Crenolanib in Subjects With D842V Mutated GIST	Recruiting	NCT02847429	Phase 3	Crenolanib;Placebo
34	Three Versus Five Years of Adjuvant Imatinib as Treatment of Patients With Operable GIST	Recruiting	NCT02413736	Phase 3	Imatinib
35	Effectiveness and Safety of EN3835 in the Treatment of EFP (Cellulite) in Women	Recruiting	NCT03428750	Phase 3
36	Study of Regorafenib as a 3rd-line or Beyond Treatment for Gastrointestinal Stromal Tumors (GIST)	Active, not recruiting	NCT01271712	Phase 3	Regorafenib (Stivarga, BAY73-4506);Placebo;Best supportive care
37	Efficacy of Imatinib in Patients With Intermediate-risk Gastrointestinal Stromal Tumor With a High-risk Genomic Grade Index	Not yet recruiting	NCT02576080	Phase 3	Imatinib
38	Imatinib Mesylate With or Without Surgery in Treating Patients With Metastatic Gastrointestinal Stromal Tumor That is Responding to Imatinib Mesylate	Terminated	NCT00956072	Phase 3	imatinib mesylate
39	Imatinib Mesylate With or Without Bevacizumab in Treating Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumor	Terminated	NCT00324987	Phase 3	Imatinib Mesylate
40	Safety And Effectiveness Of Daily Dosing With Sunitinib Or Imatinib In Patients With Gastrointestinal Stromal Tumors	Terminated	NCT00372567	Phase 3	sunitinib malate;imatinib mesylate
41	Comparison of Two Different Doses of STI571 in Treating Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumor	Terminated	NCT00009906	Phase 3	Imatinib Mesylate
42	Nilotinib 800 Mg And Imatinib 800 Mg For The Treatment Of Patients With Gastrointestinal Stromal Tumors (Gist) Refractory To Imatinib 400 Mg	Terminated	NCT00751036	Phase 3	Nilotinib;Imatinib
43	Study of Dose Escalation Versus no Dose Escalation of Imatinib in Metastatic Gastrointestinal Stromal Tumors (GIST) Patients	Terminated	NCT01031628	Phase 3	Imatinib mesylate;Imatinib mesylate;Imatinib mesylate
44	Study Evaluating IPI-504 in Patients With Gastrointestinal Stromal Tumors (GIST) Following Failure of at Least Imatinib and Sunitinib	Terminated	NCT00688766	Phase 3	retaspimycin hydrochloride (IPI-504);placebo
45	A Phase 2 Study to Evaluate Efficacy and Safety of Masitinib in Comparison to Sunitinib in Patients With Gastro-Intestinal Stromal Tumour Resistant to Imatinib	Unknown status	NCT01506336	Phase 2	masitinib;sunitinib
46	Gleevec Administered Preoperatively to Reduce Gastrointestinal Stromal Tumor (GIST)	Unknown status	NCT00290485	Phase 2	Imatinib mesylate
47	A Phase 2 Study to Evaluate Efficacy and Safety of Masitinib in Non Pre-treated, Inoperable Patients With Locally Advanced/Metastatic Gastro-intestinal Stromal Tumour (GIST)	Unknown status	NCT00998751	Phase 2	oral masitinib
48	Regorafenib in GIST With Secondary C-KIT Exon 17 Mutation	Unknown status	NCT02606097	Phase 2	regorafenib
49	Ph II of Capecitabine, Carboplatin & Bevacizumab for Gastroesophageal Junction & Gastric Carcinoma	Unknown status	NCT00780494	Phase 2	bevacizumab;carboplatin;capecitabine
50	Salvage Therapy With Sunitinib,Docetaxel and Platinum on Metastatic or Unresectable Non Small Cell Lung Cancer	Unknown status	NCT01019798	Phase 2	sunitinib, docetaxel, cisplatin

Search NIH Clinical Center for Gastrointestinal Stromal Tumor

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :

regorafenib

sunitinib

sunitinib malate

Cochrane evidence based reviews: gastrointestinal stromal tumors

Sources

Genetic Tests for Gastrointestinal Stromal Tumor

Sources

Anatomical Context for Gastrointestinal Stromal Tumor

MalaCards organs/tissues related to Gastrointestinal Stromal Tumor:

⁴¹

Small Intestine, Liver, Endothelial, Colon, Myeloid, Smooth Muscle, Lung

Sources

Publications for Gastrointestinal Stromal Tumor

Articles related to Gastrointestinal Stromal Tumor:

(show top 50) (show all 1705)

#	Title	Authors	Year
1	Metastatic Cutaneous Duodenal Gastrointestinal Stromal Tumor: A Possible Clue to Multiple Metastases. ( 29853751 )	Kim Y.J....Lee M.W.	2018
2	Combination of arginine, glutamine, and omega-3 fatty acid supplements for perioperative enteral nutrition in surgical patients with gastric adenocarcinoma or gastrointestinal stromal tumor (GIST): A prospective, randomized, double-blind study. ( 29848836 )	Ma C....Wang J.	2018
3	Early Evaluation of Response Using<sup>18</sup>F-FDG PET Influences Management in Gastrointestinal Stromal Tumor Patients Treated with Neoadjuvant Imatinib. ( 28970330 )	Farag S....Steeghs N.	2018
4	A gastrointestinal stromal tumor of the jejunum presenting with an intratumoral abscess: A case report and a literature review. ( 29859449 )	Ito S....Kato H.	2018
5	Robot-assisted laparoscopic surgery for abdominal metastatic melanoma mimicking a gastrointestinal stromal tumor: A case report and review of the literature. ( 29952974 )	Ye Z....Wang W.	2018
6	Postoperative imatinib in patients with intermediate risk gastrointestinal stromal tumor. ( 29969914 )	Wu X....Shen L.	2018
7	Molecular characterization and pathogenesis of gastrointestinal stromal tumor. ( 29441367 )	Niinuma T....Sugai T.	2018
8	Gastric fundus splenosis with hemangioma masquerading as a gastrointestinal stromal tumor in a patient with schistosomiasis and cirrhosis who underwent splenectomy: A case report and literature review. ( 29979450 )	Guan B....Jin W.Y.	2018
9	CCDC26 knockdown enhances resistance of gastrointestinal stromal tumor cells to imatinib by interacting with c-KIT. ( 29423012 )	Cao K....Xia X.	2018
10	Gastrointestinal Stromal Tumor Metastasis to the Orbit. ( 29879082 )	Roelofs K.A....Weis E.	2018
11	Invited Response Letter: &quot;Gastrointestinal Stromal Tumor After Laparoscopic Sleeve Gastrectomy: Be Awake Before, During, and After a Bariatric Procedure&quot;. ( 29717404 )	Chiappetta S....Weiner R.A.	2018
12	Gastric inflammatory fibroid polyp tumor with acute intestinal obstruction-Vanek's tumor can mimick a giant gastrointestinal stromal tumor or a gastric lymphoma. ( 29682464 )	Fleres F....Cucinotta E.	2018
13	Gastrointestinal stromal tumor of the esophagus: current issues of diagnosis, surgery and drug therapy. ( 29441371 )	Hihara J....Hirabayashi N.	2018
14	Ectopic pancreas mimicking gastrointestinal stromal tumor in the stomach fundus. ( 29742764 )	Diaconu C....Diculescu M.	2018
15	Effect of Gastrointestinal Bleeding on Gastrointestinal Stromal Tumor Patients: A Retrospective Cohort Study. ( 29346334 )	Huang Y....Wu X.	2018
16	The rare coexistence of high titer inhibitor development and gastrointestinal stromal tumor in a patient with severe hemophilia: A case report. ( 29724628 )	YA+ldA+z A....Albayrak M.	2018
17	Primary Gastric Synovial Sarcoma Mimicking a Gastrointestinal Stromal Tumor (GIST) : Gastric Synovial Sarcoma. ( 29313287 )	Olsen G....Dillhoff M.	2018
18	Gastrointestinal stromal tumor enhancers support a transcription factor network predictive of clinical outcome. ( 29866822 )	Hemming M.L....Bradner J.E.	2018
19	Robotic-assisted endoscopic full-thickness resection of a gastrointestinal stromal tumor: the tip of the iceberg. ( 29895065 )	Saumoy M....Kahaleh M.	2018
20	An Ulcerated Ileal Gastrointestinal Stromal Tumor Disguised as Acute Appendicitis. ( 29971179 )	Shrestha A.L....Shrestha G.	2018
21	FoxM1 is regulated by both HIF-1I+ and HIF-2I+ and contributes to gastrointestinal stromal tumor progression. ( 29948390 )	Bai C....Zheng J.	2018
22	Imatinib-induced Hepatitis in a Patient Treated for Gastrointestinal Stromal Tumor: A Rare Adverse Effect. ( 29942731 )	Shah J.M....Liu Y.	2018
23	Gastroduodenal intussusception and pylorus obstruction induced by a c-KIT-negative gastric gastrointestinal stromal tumor: case report and review of the literature. ( 29346826 )	Zhou Y....Jia J.	2018
24	Intraductal papillary bile duct adenocarcinoma and gastrointestinal stromal tumor in a case of neurofibromatosis type 1. ( 29398874 )	Lee J.M....Kim J.Y.	2018
25	Cytomorphology of epithelioid gastrointestinal stromal tumor. ( 29732727 )	Cantu M.D....Goyal A.	2018
26	Differential diagnosis of gastrointestinal stromal tumor by histopathology and immunohistochemistry. ( 29971258 )	Hirota S.	2018
27	Gastrointestinal Stromal Tumor With Multiple Primary Tyrosine Kinase Mutations-Clinicopathologic and Molecular Characterization. ( 29734250 )	Wong N.A.C.S....Gonzalez D.	2018
28	Comparison Analysis of Three Different Types of Minimally Invasive Procedures for Gastrointestinal Stromal Tumors a8o5a88cm. ( 29083255 )	Yin X....Chen Z.	2018
29	Neoadjuvant therapy for gastrointestinal stromal tumor. ( 29441368 )	Ishikawa T....Wakai T.	2018
30	Regorafenib regresses an imatinib-resistant recurrent gastrointestinal stromal tumor (GIST) with a mutation in exons 11 and 17 in a patient-derived orthotopic xenograft (PDOX) nude mouse model. ( 29334307 )	Miyake K....Hoffman R.M.	2018
31	Genetic polymorphisms as predictive biomarker of survival in patients with gastrointestinal stromal tumors treated with sunitinib. ( 28117434 )	Kloth J.S.L....Mathijssen R.H.J.	2018
32	Subsequent Development of Desmoid Tumor after a Resected Gastrointestinal Stromal Tumor. ( 29854525 )	Murshid A.A....Al-Maghraby H.Q.	2018
33	Long-term outcome of dasatinib first-line treatment in gastrointestinal stromal tumor: A multicenter, 2-stage phase 2 trial (Swiss Group for Clinical Cancer Research 56/07). ( 29315500 )	Montemurro M....Leyvraz S.	2018
34	Tumor necrosis and &gt;20A mitoses per 50 high-power fields can distinguish 'very high-risk' and 'highest-risk' within 'high-risk' gastric gastrointestinal stromal tumor. ( 29411689 )	Zheng J....Li Y.	2018
35	Oncogene mutational analysis in Chinese gastrointestinal stromal tumor patients. ( 29719410 )	Chen Q....Wu Y.S.	2018
36	Primary Extra-Gastrointestinal Stromal Tumor of Mesenteric Root: a Rare Version of a Soft Tissue Tumor Located on a Critical Region. ( 28367608 )	Yalcin Y....Erdemoglu E.	2017
37	Genetic progression in gastrointestinal stromal tumors: mechanisms and molecular interventions. ( 28947997 )	Li K....Wang Y.	2017
38	Laparoscopic Versus Open Resection of Gastric Gastrointestinal Stromal Tumors Larger Than 5 cm: A Single-Center, Retrospective Study. ( 28933252 )	Qiu G....Fan L.	2017
39	Clinicopathological and molecular features of a large cohort of gastrointestinal stromal tumors (GISTs) and review of the literature: BRAF mutations in KIT/PDGFRA wild-type GISTs are rare events. ( 28159677 )	Huss S....Wardelmann E.	2017
40	Sphincter-saving resection by cluneal arched skin incision for a gastrointestinal stromal tumor (GIST) of the lower rectum: a case report. ( 28058590 )	Tazawa H....Sakimoto H.	2017
41	Organ-preserving surgery for locally advanced duodenal gastrointestinal stromal tumor after neoadjuvant treatment. ( 28845017 )	Lv A....Hao C.	2017
42	A Successfully Treated Case of Gastrointestinal Stromal Tumor Causing Severe Anemia and Localized Peritonitis Showing Angina Pectoris Resulting in Watershed Cerebral Infarction. ( 28912818 )	Sehara Y....Sawada M.	2017
43	Rectal carcinoma and multiple gastrointestinal stromal tumors (GIST) of the small intestine in a patient with neurofibromatosis type 1: a case report. ( 28835241 )	Hakozaki Y....Katagiri K.	2017
44	Contrast-enhanced (endoscopic) ultrasound and endoscopic ultrasound elastography in gastrointestinal stromal tumors. ( 28218202 )	Ignee A....Dietrich C.F.	2017
45	Somatic mutational spectrum analysis in a prospective series of 104 gastrointestinal stromal tumors. ( 28098915 )	Guenat D....PrActet J.L.	2017
46	A phase II trial of regorafenib in patients with metastatic and/or a unresectable gastrointestinal stromal tumor harboring secondary mutations of exon 17. ( 28487491 )	Yeh C.N....Chen J.S.	2017
47	Dual Targeting of Insulin Receptor and KIT in Imatinib-Resistant Gastrointestinal Stromal Tumors. ( 28760855 )	Chen W....Ou W.B.	2017
48	The prognostic significance of ING4 expression on gastric gastrointestinal stromal tumors by immunohistochemistry. ( 28566557 )	Sahin S....Dursun A.	2017
49	Initial application of transanal endoscopic microsurgery for high-risk lower rectal gastrointestinal stromal tumor after imatinib mesylate neoadjuvant chemotherapy: A case report. ( 28723770 )	Liu Q....Lin G.	2017
50	Gastrointestinal Stromal Tumor. ( 28750384 )		2017

Sources

Genes for Gastrointestinal Stromal Tumor

Genes related to Gastrointestinal Stromal Tumor (7 elite genes):

(show all 46)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KIT	KIT Proto-Oncogene Receptor Tyrosine Kinase	Protein Coding	1640.25	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative somatic mutation ⁵⁹ Causative variation ⁷⁵ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	9438854 22685257 25394175 (more) 23852704 15824741 11073817 18657298 18715619 11065242 12960119 15161681 16294026 16685437 15822120 16928224 17638656 18521081 11914627 19620409 19096980 18246046 17909012 17894554 16226710 15723656 11861291 18602222 18488000 18724245 18618605 18187489 17251340 16740725 15087667 12727838 15742474 15690055 15070666 12759497 11454425 18413817 16402362 16143141 16135486 14714834 10824925 19390946 19047110 18724244 18265649 17673922 15118370 12649674 19291337 18359707 18350628 16778826 12152168 20023271 15540118 15526368 15236194 12655446 11021812 18636362 19706776 17546049 15897563 18271923 17384206 16551858 15824741 18183595 17437861 10086344 11376557 11751374 14695343 15286804 15902997 17208434 17240304 17193822 16630479 16781490 16397744 16540730 16082245 15869870 15044919 15123459 15045935 15012791 14518068 12893208 12824871 12453327 12417503 18778561 18701138 18723346 18547614 18566536 18488160
2	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	1639.5	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative somatic mutation ⁵⁹ Causative variation ⁷⁵ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	17087943 12522257 22685257 (more) 25394175 23852704 17566086 18657298 20096441 16630479 17638656 17571312 18618605 18360281 18187489 19830214 19291337 17384206 15540118 18636362 15690055 19448595 16402362 18265649 17673922 15894928 20023271 18271923 19366796 12522257 16685437 17193822 18416137 18510377 18671247 19847891 17909012 17171690 17316415 16697720 15872385 15545668 15326474 15269295 14518068 17251340 17163160 17018739 16610057 15284236 15087667 14645423 19787372 20047122 18794084 18547963 18553235 18041070 18085040 17643098 17195905 15929122 19176456 19706776 19047911 16776995 18615679 17403446 17197927 16892550 15968329 15928335 20023270 17527083 17363589 17122634 16135486 15188667 20490332 19606013 18955458 18818517 17532173 18350628 18223323 16778826 16291174 15580284 20470368 19432672 15492989 19949796 19585585 19695682 19333543 18724245 18651966 17367763 19307738 18778561 18670346 18246046 18488160 17667967 17452978 17566086
3	SDHB	Succinate Dehydrogenase Complex Iron Sulfur Subunit B	Protein Coding	987.52	Molecular basis known ⁵⁷ Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Candidate gene tested ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	22685257 25394175 23852704 (more) 20301715 20065170 20816580 23788249 24893135 24319509 25356965 27854360 24493721 12213855 12000816 21173220
4	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	986.36	Molecular basis known ⁵⁷ Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Candidate gene tested ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	17804857 17667967 21173220 (more) 22685257 25394175 23852704 20301715 20065170 20816580 23788249 24893135 24319509 25356965 27854360
5	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	408.37	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	22685257 25394175 23852704
6	MEN1	Menin 1	Protein Coding	400	Pathogenic ⁶	22685257 25394175 23852704
7	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	364.77	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	CCDC26	CCDC26 Long Non-Coding RNA We found that human GIST-882 cells with lower CCDC26 expression were less sensitive to imatinib compared with GIST-T1 cells with higher CCDC26 expression. CCDC26 expression decreased in a time-dependent manner in the presence of imatinib. Moreover, small interfering RNA (siRNA) knockdown of CCDC26 increased GIST cell sensitivity to imatinib. The RNA pull-down experiment showed that CCDC26 can interact with c-KIT and that CCDC26 knockdown can upregulate c-KIT expression. We also found that inhibiting c-KIT induced resistance to imatinib. Lastly, we proved that inhibiting c-KIT can reverse CCDC26 knockdown-mediated imatinib resistance in GIST. We suggest that CCDC26 knockdown can induce imatinib resistance in GIST cells by downregulating c-KIT expression. Dysfunction Pattern: Expression [low expression]	RNA Gene	153.15	Experimental evidence: Expression ³⁹ DISEASES inferred ¹⁵	29423012
9	HOTAIR	HOX Transcript Antisense RNA In this study,we identified frequent upregulation of miR-196a and lincRNA HOTAIR in high-risk gastrointestinal stromal tumors (GIST). In like manner,overexpression of HOTAIR was also strongly associated with high-risk grade and metastasis among GIST specimens. RNA interference-mediated knockdown of HOTAIR altered the expression of reported HOTAIR target genes and suppressed GIST cell invasiveness. Dysfunction Pattern: Regulation [up-regulated]	RNA Gene	150	Experimental evidence: Regulation ³⁹	27659532
10	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	37.32	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	22685257 25394175 23852704
11	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	34.52	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	15224284 16294026 11914627 (more) 19366796 15547773 15717993 18718191 15897563 17403446
12	ETV1	ETS Variant 1	Protein Coding	33.54	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
13	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	32.96	Drug response ⁶ GeneCards inferred via : Variants (show sections)	22685257 25394175 23852704
14	KITLG	KIT Ligand	Protein Coding	31.39	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	14686698 16127511 15743318 (more) 18602222 12783370 14643293
15	PRKCQ	Protein Kinase C Theta	Protein Coding	30.02	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18521081 15217944 15289315
16	ENO2	Enolase 2	Protein Coding	29.51	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	15232741 12483251
17	DES	Desmin	Protein Coding	29.39	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18359707 11598621 20495760 (more) 15232741 19432672 12938260
18	NTRK3	Neurotrophic Receptor Tyrosine Kinase 3	Protein Coding	29.21	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	12738950 16101174 19369884 (more) 11914627 19032955 16315926 12389876 12796356 12949711 19917964
19	ABL1	ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase	Protein Coding	28.91	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	15637141 15717993 15727903 (more) 18553235
20	ACTC1	Actin, Alpha, Cardiac Muscle 1	Protein Coding	28.87	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18996821 18976023 15232741 (more) 12483251
21	FLT3	Fms Related Tyrosine Kinase 3	Protein Coding	27.91	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	19940466
22	VIM	Vimentin	Protein Coding	27.87	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11598621 10961754 18359707 (more) 12057170 15043462
23	S100B	S100 Calcium Binding Protein B	Protein Coding	27.58	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11598621
24	SDHD	Succinate Dehydrogenase Complex Subunit D	Protein Coding	25.71	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
25	CD34	CD34 Molecule	Protein Coding	25.12	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	9001869 7530409 10751339 (more) 9042286 10623649 16892012
26	S100A1	S100 Calcium Binding Protein A1	Protein Coding	18.52	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	19108033 16892012
27	ANO1	Anoctamin 1	Protein Coding	17.52	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
28	NES	Nestin	Protein Coding	14.7	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18799194 12172785 12193211
29	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	14.33	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	19047110 19706776
30	KCTD12	Potassium Channel Tetramerization Domain Containing 12	Protein Coding	14.11	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
31	MKI67	Marker Of Proliferation Ki-67	Protein Coding	13.81	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	17230613 17013685
32	NF1	Neurofibromin 1	Protein Coding	13.78	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
33	DDX39A	DExD-Box Helicase 39A	Protein Coding	13.34	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
34	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	12.96	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
35	TP53	Tumor Protein P53	Protein Coding	12.74	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
36	SYP	Synaptophysin	Protein Coding	12.61	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
37	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	12.42	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
38	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	12.38	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
39	PTEN	Phosphatase And Tensin Homolog	Protein Coding	11.4	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
40	CHGA	Chromogranin A	Protein Coding	11.31	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
41	UCHL1	Ubiquitin C-Terminal Hydrolase L1	Protein Coding	11.31	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
42	SLITRK3	SLIT And NTRK Like Family Member 3	Protein Coding	11.29	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
43	CCND1	Cyclin D1	Protein Coding	11.27	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
44	EGFR	Epidermal Growth Factor Receptor	Protein Coding	11.18	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
45	IGF2	Insulin Like Growth Factor 2	Protein Coding	11.11	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
46	CD44	CD44 Molecule (Indian Blood Group)	Protein Coding	11.09	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

Variations for Gastrointestinal Stromal Tumor

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

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	KIT	p.Lys550Ile	VAR_033123
2	KIT	p.Val559Ala	VAR_033126	rs121913517
3	KIT	p.Val559Asp	VAR_033127	rs121913517
4	PDGFRA	p.Tyr849Cys	VAR_066474

ClinVar genetic disease variations for Gastrointestinal Stromal Tumor:

⁶

(show top 50) (show all 2785)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MTHFR	NM_005957.4(MTHFR): c.665C> T (p.Ala222Val)	single nucleotide variant	drug response	rs1801133	GRCh37	Chromosome 1, 11856378: 11856378
2	MTHFR	NM_005957.4(MTHFR): c.665C> T (p.Ala222Val)	single nucleotide variant	drug response	rs1801133	GRCh38	Chromosome 1, 11796321: 11796321
3	MTHFR	NM_005957.4(MTHFR): c.1286A> C (p.Glu429Ala)	single nucleotide variant	drug response	rs1801131	GRCh37	Chromosome 1, 11854476: 11854476
4	MTHFR	NM_005957.4(MTHFR): c.1286A> C (p.Glu429Ala)	single nucleotide variant	drug response	rs1801131	GRCh38	Chromosome 1, 11794419: 11794419
5	FASTKD3; MTRR	NM_002454.2(MTRR): c.66A> G (p.Ile22Met)	single nucleotide variant	drug response	rs1801394	GRCh37	Chromosome 5, 7870973: 7870973
6	FASTKD3; MTRR	NM_002454.2(MTRR): c.66A> G (p.Ile22Met)	single nucleotide variant	drug response	rs1801394	GRCh38	Chromosome 5, 7870860: 7870860
7	SDHC	NM_003001.3(SDHC): c.405+1G> T	single nucleotide variant	Pathogenic/Likely pathogenic	rs587776653	GRCh37	Chromosome 1, 161326631: 161326631
8	SDHC	NM_003001.3(SDHC): c.405+1G> T	single nucleotide variant	Pathogenic/Likely pathogenic	rs587776653	GRCh38	Chromosome 1, 161356841: 161356841
9	SDHC	NM_003001.3(SDHC): c.405+1G> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs587776653	GRCh37	Chromosome 1, 161326631: 161326631
10	SDHC	NM_003001.3(SDHC): c.405+1G> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs587776653	GRCh38	Chromosome 1, 161356841: 161356841
11	SDHB	NM_003000.2(SDHB): c.268C> T (p.Arg90Ter)	single nucleotide variant	Pathogenic	rs74315366	GRCh37	Chromosome 1, 17359573: 17359573
12	SDHB	NM_003000.2(SDHB): c.268C> T (p.Arg90Ter)	single nucleotide variant	Pathogenic	rs74315366	GRCh38	Chromosome 1, 17033078: 17033078
13	SDHB	NM_003000.2(SDHB): c.590C> G (p.Pro197Arg)	single nucleotide variant	Likely pathogenic	rs74315367	GRCh37	Chromosome 1, 17350520: 17350520
14	SDHB	NM_003000.2(SDHB): c.590C> G (p.Pro197Arg)	single nucleotide variant	Likely pathogenic	rs74315367	GRCh38	Chromosome 1, 17024025: 17024025
15	SDHB	NM_003000.2(SDHB): c.725G> A (p.Arg242His)	single nucleotide variant	Pathogenic	rs74315368	GRCh37	Chromosome 1, 17349143: 17349143
16	SDHB	NM_003000.2(SDHB): c.725G> A (p.Arg242His)	single nucleotide variant	Pathogenic	rs74315368	GRCh38	Chromosome 1, 17022648: 17022648
17	SDHB	NM_003000.2(SDHB): c.79C> T (p.Arg27Ter)	single nucleotide variant	Pathogenic	rs74315369	GRCh37	Chromosome 1, 17371377: 17371377
18	SDHB	NM_003000.2(SDHB): c.79C> T (p.Arg27Ter)	single nucleotide variant	Pathogenic	rs74315369	GRCh38	Chromosome 1, 17044882: 17044882
19	PDGFRA	NM_006206.5(PDGFRA): c.2525A> T (p.Asp842Val)	single nucleotide variant	Pathogenic	rs121908585	GRCh37	Chromosome 4, 55152093: 55152093
20	PDGFRA	NM_006206.5(PDGFRA): c.2525A> T (p.Asp842Val)	single nucleotide variant	Pathogenic	rs121908585	GRCh38	Chromosome 4, 54285926: 54285926
21	PDGFRA	NM_006206.5(PDGFRA): c.2526_2537delCATCATGCATGA (p.Ile843_Asp846del)	deletion	Pathogenic/Likely pathogenic	rs587776792	GRCh38	Chromosome 4, 54285927: 54285938
22	PDGFRA	NM_006206.5(PDGFRA): c.2526_2537delCATCATGCATGA (p.Ile843_Asp846del)	deletion	Pathogenic/Likely pathogenic	rs587776792	GRCh37	Chromosome 4, 55152094: 55152105
23	PDGFRA	NM_006206.5(PDGFRA): c.2533_2544delCATGATTCGAAC (p.His845_Asn848del)	deletion	Pathogenic	rs587776793	GRCh37	Chromosome 4, 55152101: 55152112
24	PDGFRA	NM_006206.5(PDGFRA): c.2533_2544delCATGATTCGAAC (p.His845_Asn848del)	deletion	Pathogenic	rs587776793	GRCh38	Chromosome 4, 54285934: 54285945
25	PDGFRA	NM_006206.5(PDGFRA): c.1682T> A (p.Val561Asp)	single nucleotide variant	Pathogenic	rs121908586	GRCh37	Chromosome 4, 55141036: 55141036
26	PDGFRA	NM_006206.5(PDGFRA): c.1682T> A (p.Val561Asp)	single nucleotide variant	Pathogenic	rs121908586	GRCh38	Chromosome 4, 54274869: 54274869
27	PDGFRA	NM_006206.5(PDGFRA): c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg)	insertion	Pathogenic	rs587776794	GRCh38	Chromosome 4, 54274868: 54274869
28	PDGFRA	NM_006206.5(PDGFRA): c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg)	insertion	Pathogenic	rs587776794	GRCh37	Chromosome 4, 55141035: 55141036
29	PDGFRA	NM_006206.5(PDGFRA): c.1679_1693delGGGTCATTGAATCAA (p.Arg560_Ser564del)	deletion	Pathogenic	rs587776795	GRCh38	Chromosome 4, 54274866: 54274880
30	PDGFRA	NM_006206.5(PDGFRA): c.1679_1693delGGGTCATTGAATCAA (p.Arg560_Ser564del)	deletion	Pathogenic	rs587776795	GRCh37	Chromosome 4, 55141033: 55141047
31	PDGFRA	NM_006206.5(PDGFRA): c.1696_1713del18 (p.Ser566_Glu571del)	deletion	Pathogenic	rs121913271	GRCh38	Chromosome 4, 54274883: 54274900
32	PDGFRA	NM_006206.5(PDGFRA): c.1696_1713del18 (p.Ser566_Glu571del)	deletion	Pathogenic	rs121913271	GRCh37	Chromosome 4, 55141050: 55141067
33	PDGFRA	NM_006206.5(PDGFRA): c.2536G> T (p.Asp846Tyr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121908588	GRCh37	Chromosome 4, 55152104: 55152104
34	PDGFRA	NM_006206.5(PDGFRA): c.2536G> T (p.Asp846Tyr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121908588	GRCh38	Chromosome 4, 54285937: 54285937
35	PDGFRA	NM_006206.5(PDGFRA): c.1664A> G (p.Tyr555Cys)	single nucleotide variant	Pathogenic	rs121908589	GRCh37	Chromosome 4, 55141018: 55141018
36	PDGFRA	NM_006206.5(PDGFRA): c.1664A> G (p.Tyr555Cys)	single nucleotide variant	Pathogenic	rs121908589	GRCh38	Chromosome 4, 54274851: 54274851
37	KIT	NM_000222.2(KIT): c.1676_1681delTTGTTG (p.Val559_Val560del)	deletion	Pathogenic	rs587776803	GRCh38	Chromosome 4, 54727444: 54727449
38	KIT	NM_000222.2(KIT): c.1676_1681delTTGTTG (p.Val559_Val560del)	deletion	Pathogenic	rs587776803	GRCh37	Chromosome 4, 55593610: 55593615
39	KIT	NM_000222.2(KIT): c.1652_1666delCCATGTATGAAGTAC (p.Pro551_Val555del)	deletion	Pathogenic	rs587776804	GRCh37	Chromosome 4, 55593586: 55593600
40	KIT	NM_000222.2(KIT): c.1652_1666delCCATGTATGAAGTAC (p.Pro551_Val555del)	deletion	Pathogenic	rs587776804	GRCh38	Chromosome 4, 54727420: 54727434
41	KIT	KIT, 15-BP DEL/LYS550ILE	deletion	Pathogenic
42	KIT	NM_000222.2(KIT): c.1676T> A (p.Val559Asp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913517	GRCh37	Chromosome 4, 55593610: 55593610
43	KIT	NM_000222.2(KIT): c.1676T> A (p.Val559Asp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913517	GRCh38	Chromosome 4, 54727444: 54727444
44	KIT	NM_000222.2(KIT): c.1648_1674del27 (p.Lys550_Lys558del)	deletion	Pathogenic	rs121913234	GRCh38	Chromosome 4, 54727416: 54727442
45	KIT	NM_000222.2(KIT): c.1648_1674del27 (p.Lys550_Lys558del)	deletion	Pathogenic	rs121913234	GRCh37	Chromosome 4, 55593582: 55593608
46	KIT	NM_000222.2(KIT): c.2446G> T (p.Asp816Tyr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913506	GRCh37	Chromosome 4, 55599320: 55599320
47	KIT	NM_000222.2(KIT): c.2446G> T (p.Asp816Tyr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913506	GRCh38	Chromosome 4, 54733154: 54733154
48	KIT	NM_000222.2(KIT): c.2515G> A (p.Glu839Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913509	GRCh37	Chromosome 4, 55602694: 55602694
49	KIT	NM_000222.2(KIT): c.2515G> A (p.Glu839Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913509	GRCh38	Chromosome 4, 54736528: 54736528
50	KIT	NM_000222.2(KIT): c.2446G> C (p.Asp816His)	single nucleotide variant	Pathogenic	rs121913506	GRCh37	Chromosome 4, 55599320: 55599320

Cosmic variations for Gastrointestinal Stromal Tumor:

⁹

(show top 50) (show all 716)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM6146	PIK3CA	soft tissue,stomach,gastrointestinal stromal tumour,spindle	c.3137C>T	p.A1046V	3:179234294-179234294	21
2	COSM736	PDGFRA	soft tissue,stomach,gastrointestinal stromal tumour,epithelioid	c.2525A>T	p.D842V	4:54285926-54285926	21
3	COSM12396	PDGFRA	soft tissue,stomach,gastrointestinal stromal tumour,epithelioid	c.2524G>T	p.D842Y	4:54285925-54285925	21
4	COSM739	PDGFRA	soft tissue,stomach,gastrointestinal stromal tumour,epithelioid	c.1682T>A	p.V561D	4:54274869-54274869	21
5	COSM1257	KIT	soft tissue,stomach,gastrointestinal stromal tumour,epithelioid	c.1679T>A	p.V560D	4:54727447-54727447	21
6	COSM1260	KIT	soft tissue,stomach,gastrointestinal stromal tumour,spindle	c.1679T>G	p.V560G	4:54727447-54727447	21
7	COSM1252	KIT	soft tissue,stomach,gastrointestinal stromal tumour,spindle	c.1676T>A	p.V559D	4:54727444-54727444	21
8	COSM12708	KIT	soft tissue,stomach,gastrointestinal stromal tumour,spindle and epithelioid	c.2009C>T	p.T670I	4:54729353-54729353	21
9	COSM12709	KIT	soft tissue,stomach,gastrointestinal stromal tumour,spindle	c.2460T>A	p.D820E	4:54733168-54733168	21
10	COSM1184	KIT	soft tissue,stomach,gastrointestinal stromal tumour,spindle	c.1655T>A	p.M552K	4:54727423-54727423	21
11	COSM1227	KIT	soft tissue,stomach,gastrointestinal stromal tumour,spindle	c.1670G>C	p.W557S	4:54727438-54727438	21
12	COSM1253	KIT	soft tissue,stomach,gastrointestinal stromal tumour,spindle	c.1676T>G	p.V559G	4:54727444-54727444	21
13	COSM1290	KIT	soft tissue,stomach,gastrointestinal stromal tumour,spindle	c.1727T>C	p.L576P	4:54727495-54727495	21
14	COSM1297	KIT	soft tissue,stomach,gastrointestinal stromal tumour,spindle	c.1751T>C	p.F584S	4:54727519-54727519	21
15	COSM19216	KIT	soft tissue,stomach,gastrointestinal stromal tumour,spindle	c.1674G>C	p.K558N	4:54727442-54727442	21
16	COSM1302	KIT	soft tissue,stomach,gastrointestinal stromal tumour,spindle	c.1769G>A	p.S590N	4:54727537-54727537	21
17	COSM1154	KIT	soft tissue,stomach,gastrointestinal stromal tumour,spindle	c.1491G>A	p.V497V	4:54726001-54726001	21
18	COSM1216	KIT	soft tissue,stomach,gastrointestinal stromal tumour,spindle	c.1669T>A	p.W557R	4:54727437-54727437	21
19	COSM308543	KIT	soft tissue,stomach,gastrointestinal stromal tumour,spindle and epithelioid	c.1711A>C	p.I571L	4:54727479-54727479	21
20	COSM12504	CDKN2A	soft tissue,stomach,gastrointestinal stromal tumour,epithelioid	c.247C>T	p.H83Y	9:21971112-21971112	21
21	COSM774	PIK3CA	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.3139C>T	p.H1047Y	3:179234296-179234296	18
22	COSM12591	PIK3CA	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.3127A>G	p.M1043V	3:179234284-179234284	18
23	COSM22413	PDGFRA	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.2472C>T	p.V824V	4:54285873-54285873	18
24	COSM19324	PDGFRA	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.2464C>A	p.R822S	4:54285865-54285865	18
25	COSM19325	PDGFRA	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.1765C>T	p.P589S	4:54274952-54274952	18
26	COSM1321	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.2466T>A	p.N822K	4:54733174-54733174	18
27	COSM1219	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.1669T>C	p.W557R	4:54727437-54727437	18
28	COSM12710	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.2458G>T	p.D820Y	4:54733166-54733166	18
29	COSM19323	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.1880C>T	p.P627L	4:54728011-54728011	18
30	COSM133700	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.1671G>C	p.W557C	4:54727439-54727439	18
31	COSM1221	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.1669T>G	p.W557G	4:54727437-54727437	18
32	COSM133670	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle and epithelioid	c.2459A>C	p.D820A	4:54733167-54733167	18
33	COSM19109	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle and epithelioid	c.2464A>T	p.N822Y	4:54733172-54733172	18
34	COSM41628	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle and epithelioid	c.1708T>G	p.Y570D	4:54727476-54727476	18
35	COSM19326	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.1958T>C	p.I653T	4:54728089-54728089	18
36	COSM12711	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.2447A>G	p.D816G	4:54733155-54733155	18
37	COSM133685	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.1499C>T	p.T500I	4:54726009-54726009	18
38	COSM133701	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.1757G>A	p.R586K	4:54727525-54727525	18
39	COSM41629	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle and epithelioid	c.1712T>G	p.I571R	4:54727480-54727480	18
40	COSM5352270	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.2040T>G	p.N680K	4:54729384-54729384	18
41	COSM1243	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.1674G>A	p.K558K	4:54727442-54727442	18
42	COSM1307	KIT	soft tissue,small intestine,gastrointestinal stromal tumour,spindle	c.2394C>T	p.I798I	4:54733102-54733102	18
43	COSM28052	PDGFRA	soft tissue,omentum,gastrointestinal stromal tumour,epithelioid	c.2544C>A	p.N848K	4:54285945-54285945	17
44	COSM1192905	PDGFRA	soft tissue,omentum,gastrointestinal stromal tumour,epithelioid	c.2538T>A	p.D846E	4:54285939-54285939	17
45	COSM12706	KIT	soft tissue,abdomen,gastrointestinal stromal tumour,spindle and epithelioid	c.1961T>C	p.V654A	4:54728092-54728092	17
46	COSM1255	KIT	soft tissue,abdomen,gastrointestinal stromal tumour,spindle and epithelioid	c.1676T>C	p.V559A	4:54727444-54727444	17
47	COSM36175	CDKN2A	soft tissue,abdomen,gastrointestinal stromal tumour,spindle	c.150+1G>A	p.?	9:21974677-21974677	17
48	COSM1304	KIT	soft tissue,gastrointestinal tract (site indeterminate),gastrointestinal stromal tumour,spindle	c.1924A>G	p.K642E	4:54728055-54728055	16
49	COSM1277	KIT	soft tissue,gastrointestinal tract (site indeterminate),gastrointestinal stromal tumour,spindle	c.1702T>G	p.Y568D	4:54727470-54727470	16
50	COSM33781	NF2	soft tissue,stomach,schwannoma,NS	c.571T>A	p.W191R	22:29655648-29655648	7

Copy number variations for Gastrointestinal Stromal Tumor from CNVD:

⁷ (show top 50) (show all 117)

#	CNVD ID	Chromosom	Start	End	Type	Gene Symbol	CNVD Disease
1	13352	1	1	125000000	Loss		Gastrointestinal stromal cancer
2	13353	1	1	125000000	Loss		Gastrointestinal stromal cancer
3	13354	1	1	125000000	Loss		Gastrointestinal stromal cancer
4	13766	1	1	28000000	Loss		Gastrointestinal stromal cancer
5	14271	1	106334457	114964386	Loss	AMPD1	Gastrointestinal stromal cancer
6	14272	1	106334457	114964386	Loss	AP4B1	Gastrointestinal stromal cancer
7	14273	1	106334457	114964386	Loss	BCAS2	Gastrointestinal stromal cancer
8	16434	1	124300000	247249719	Gain		Gastrointestinal stromal cancer
9	17388	1	142600000	147000000	Gain	PEX11B	Gastrointestinal stromal cancer
10	29288	1	2300000	117600000	Loss		Gastrointestinal stromal cancer
11	36966	1	84129665	95422234	Loss	RWDD3	Gastrointestinal stromal cancer
12	38126	1	99947682	100601821	Loss	AGL	Gastrointestinal stromal cancer
13	38127	1	99947682	100601821	Loss	HIAT1	Gastrointestinal stromal cancer
14	44527	10	5878820	6526558	Loss	FBXO18	Gastrointestinal stromal cancer
15	44528	10	5878820	6526558	Loss	PFKFB3	Gastrointestinal stromal cancer
16	44529	10	5878820	6526558	Loss	RBM17	Gastrointestinal stromal cancer
17	45852	10	74900000	135534747	Loss		Gastrointestinal stromal cancer
18	48507	11	1	53700000	Copy number		Gastrointestinal stromal cancer
19	66050	12	24991089	25698435	Deletion	KRAS	Gastrointestinal stromal cancer
20	67067	12	35800000	133851895	Gain		Gastrointestinal stromal cancer
21	70005	12	57021816	85836547	Deletion	RAP1B	Gastrointestinal stromal cancer
22	73900	12	98322858	130692602	Deletion	RAN	Gastrointestinal stromal cancer
23	74692	13	110300000	115169878	Loss		Gastrointestinal stromal cancer
24	75247	13	18400000	105800000	Loss		Gastrointestinal stromal cancer
25	75347	13	19198237	22523922	Deletion	LATS2	Gastrointestinal stromal cancer
26	75669	13	22536202	31430096	Deletion	RNF6	Gastrointestinal stromal cancer
27	77894	13	48011276	54590729	Deletion	TRIM13	Gastrointestinal stromal cancer
28	77895	13	48011276	54590729	Deletion	INTS6	Gastrointestinal stromal cancer
29	78534	13	52523853	72250500	Gain	TDRD3	Gastrointestinal stromal cancer
30	79527	13	73160881	93888882	Gain	C13orf7	Gastrointestinal stromal cancer
31	80767	13	97404021	99434703	Loss	CLYBL	Gastrointestinal stromal cancer
32	80768	13	97404021	99434703	Loss	STK24	Gastrointestinal stromal cancer
33	80769	13	97404021	99434703	Loss	TM9SF2	Gastrointestinal stromal cancer
34	82833	14	17600000	107349540	Loss		Gastrointestinal stromal cancer
35	82834	14	17600000	107349540	Loss		Gastrointestinal stromal cancer
36	83013	14	19100000	106368585	Loss		Gastrointestinal stromal cancer
37	83178	14	19365081	106329840	Loss	OXA1L	Gastrointestinal stromal cancer
38	83179	14	19365081	106329840	Loss	PPP2R5E	Gastrointestinal stromal cancer
39	84716	14	33942779	34940779	Loss	C14orf10	Gastrointestinal stromal cancer
40	84717	14	33942779	34940779	Loss	C14orf24	Gastrointestinal stromal cancer
41	85081	14	38585823	38760942	Deletion	PNN	Gastrointestinal stromal cancer
42	86405	14	59284472	61286479	Deletion	PPM1A	Gastrointestinal stromal cancer
43	87231	14	72470216	73993089	Loss	C14orf168	Gastrointestinal stromal cancer
44	87232	14	72470216	73993089	Loss	PSEN1	Gastrointestinal stromal cancer
45	87233	14	72470216	73993089	Loss	ZADH1	Gastrointestinal stromal cancer
46	87234	14	72470216	73993089	Loss	ZFYVE1	Gastrointestinal stromal cancer
47	87235	14	72470216	73993089	Loss	ZNF410	Gastrointestinal stromal cancer
48	87381	14	73126255	89981048	Deletion	SEL1L	Gastrointestinal stromal cancer
49	87752	14	76889274	77394297	Loss	C14orf133	Gastrointestinal stromal cancer
50	87753	14	76889274	77394297	Loss	C14orf156	Gastrointestinal stromal cancer

Sources

Expression for Gastrointestinal Stromal Tumor

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

Sources

Pathways for Gastrointestinal Stromal Tumor

Pathways related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

(show all 38)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.83	ABL1 BRAF DES KIT KITLG KRAS
2	Activation of cAMP-Dependent PKA ⁶⁴ Show member pathways Activation of PKA through GPCR ⁶⁴ cAMP Pathway ⁶⁴ PKA Signaling ⁶⁴	13.52	BRAF KIT KITLG KRAS NTRK3 PDGFRA
3	Developmental Biology ⁶⁶ Show member pathways Axon guidance ⁶⁶	13.45	ABL1 BRAF KIT KITLG KRAS PDGFRA
4	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.36	ETV1 KIT KITLG KRAS NTRK3 PDGFRA
5	CREB Pathway ⁶⁴ Show member pathways Activation of PKC through GPCR ⁶⁴ Intracellular Calcium Signaling ⁶⁴ IP3 Pathway ⁶⁴	13.28	KIT KITLG KRAS NTRK3 PDGFRA PDGFRB
6	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.25	KIT KITLG KRAS NTRK3 PDGFRA PDGFRB
7	Nanog in Mammalian ESC Pluripotency ⁶⁴ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁴ eNOS Signaling ⁶⁴ GSK3 Signaling ⁶⁴	13.16	BRAF KIT KITLG KRAS NTRK3 PDGFRA
8	Aldosterone synthesis and secretion ³⁷ Show member pathways Adrenergic signaling in cardiomyocytes ³⁷ Ca2+ activated K+ channels ⁶⁶ Cortisol synthesis and secretion ³⁷ Cushing's syndrome ³⁷ Insulin secretion ³⁷ Melanogenesis ³⁷ Thyroid hormone synthesis ³⁷	12.97	ACTC1 BRAF KIT KITLG KRAS MEN1
9	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	12.97	KIT KITLG KRAS NTRK3 PDGFRA PDGFRB
10	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.9	BRAF KIT KITLG KRAS NTRK3 PDGFRA
11	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.88	BRAF KIT KITLG KRAS PDGFRA PDGFRB
12	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.82	BRAF KRAS NTRK3 PDGFRA PDGFRB PRKCQ
13	Endometrial cancer ³⁷ Show member pathways Acute myeloid leukemia ³⁷ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁶ Chronic myeloid leukemia ³⁷ Colorectal cancer ³⁷ Pancreatic cancer ³⁷ Prostate cancer ³⁷ Signal transduction PTEN pathway ²² Thyroid cancer ³⁷	12.82	ABL1 BRAF KIT KRAS PDGFRA PDGFRB
14	Glioma ³⁷ Show member pathways EGFR tyrosine kinase inhibitor resistance ³⁷ Endocrine resistance ³⁷ Melanoma ³⁷ Non-small cell lung cancer ³⁷ Signaling Pathways in Glioblastoma ¹	12.72	BRAF KRAS PDGFRA PDGFRB PRKCQ
15	Pathways in cancer ³⁷	12.72	ABL1 BRAF KIT KITLG KRAS PDGFRA
16	Downstream signaling events of B Cell Receptor (BCR) ⁶⁶ Show member pathways Activation of RAS in B cells ⁶⁶ Signaling by the B Cell Receptor (BCR) ⁶⁶	12.68	KIT KITLG KRAS PDGFRA PDGFRB
17	MAPK signaling pathway ¹ ³⁷	12.68	BRAF KIT KITLG KRAS PDGFRA PDGFRB
18	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	12.61	BRAF KRAS PDGFRA PDGFRB PRKCQ
19	Ras signaling pathway ³⁷ Show member pathways Rap1 signaling pathway ³⁷	12.44	ABL1 BRAF KIT KITLG KRAS PDGFRA
20	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.42	NTRK3 PDGFRA PDGFRB PRKCQ
21	Apoptosis Pathway ⁷² Show member pathways Akt Pathway ⁷² NF-kappaB Pathway ⁷²	12.4	KRAS NTRK3 PDGFRA PDGFRB PRKCQ
22	Phospholipase D signaling pathway ³⁷ Show member pathways Choline metabolism in cancer ³⁷	12.31	KIT KITLG KRAS PDGFRA PDGFRB
23	Carbon metabolism ³⁷ Show member pathways 2-Oxocarboxylic acid metabolism ³⁷ Biosynthesis of amino acids ³⁷ formaldehyde oxidation ¹	12.21	ENO2 MTHFR SDHA SDHB SDHC
24	AKT Signaling Pathway ⁶⁷	12.1	KRAS NTRK3 PDGFRA PDGFRB
25	Tyrosine Kinases / Adaptors ⁴	12	ABL1 KIT KITLG PDGFRA PDGFRB
26	Glioblastoma Multiforme ⁶⁴	11.94	BRAF KRAS PDGFRA PDGFRB
27	Citrate cycle (TCA cycle) ³⁷ Show member pathways pyruvate decarboxylation to acetyl CoA ¹ superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle ¹ TCA cycle ¹ TCA Cycle and Deficiency of Pyruvate Dehydrogenase complex (PDHc) ¹	11.87	ENO2 SDHA SDHB SDHC
28	Gap junction ³⁷	11.79	KRAS PDGFRA PDGFRB
29	Gefitinib Pathway, Pharmacokinetics ⁶¹ Show member pathways Doxepin Pathway, Pharmacokinetics ⁶¹ Fluoxetine Pathway, Pharmacokinetics ⁶¹ Imatinib Pathway, Pharmacokinetics/Pharmacodynamics ⁶¹ Nevirapine Pathway, Pharmacokinetics ⁶¹ Pazopanib Pathway, Pharmacokinetics ⁶¹ Warfarin Pathway, Pharmacokinetics ⁶¹	11.57	ABL1 KIT PDGFRA PDGFRB
30	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	11.54	BRAF KRAS NTRK3 PDGFRA PDGFRB
31	Cardiac Progenitor Differentiation ¹	11.52	ACTC1 KIT PDGFRA
32	VEGF Pathway (Tocris) ⁷² Show member pathways Sorafenib Pharmacodynamics ⁶¹	11.47	BRAF KIT KRAS PDGFRB PRKCQ
33	Alzheimers Disease Pathway ⁶⁴	11.32	NTRK3 PDGFRA PDGFRB PRKCQ
34	Transcription_Transcription factor Tubby signaling pathways ²²	11.27	ABL1 KRAS PRKCQ
35	Vemurafenib Pathway, Pharmacodynamics ⁶¹	11.25	BRAF KRAS PDGFRA PDGFRB
36	G-protein signaling_K-RAS regulation pathway ²²	11.17	BRAF KRAS PRKCQ
37	Central carbon metabolism in cancer ³⁷	10.83	KIT KRAS NTRK3 PDGFRA PDGFRB
38	Osteoblast Signaling ¹	10.82	PDGFRA PDGFRB

Sources

GO Terms for Gastrointestinal Stromal Tumor

Cellular components related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	receptor complex	GO:0043235	9.46	KIT NTRK3 PDGFRA PDGFRB
2	respiratory chain complex II	GO:0045273	8.96	SDHB SDHC
3	mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)	GO:0005749	8.8	SDHA SDHB SDHC

Biological processes related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

(show all 38)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of cell migration	GO:0030335	9.96	KIT NTRK3 PDGFRA PDGFRB
2	negative regulation of apoptotic process	GO:0043066	9.95	ACTC1 BRAF KIT KITLG NTRK3 PDGFRA
3	positive regulation of protein kinase B signaling	GO:0051897	9.92	KIT KITLG PDGFRA PDGFRB
4	positive regulation of MAPK cascade	GO:0043410	9.91	KIT NTRK3 PDGFRA PDGFRB
5	electron transport chain	GO:0022900	9.85	SDHA SDHB SDHC
6	phosphatidylinositol phosphorylation	GO:0046854	9.85	KIT KITLG PDGFRA PDGFRB
7	protein autophosphorylation	GO:0046777	9.85	ABL1 KIT NTRK3 PDGFRA PDGFRB
8	positive regulation of phosphatidylinositol 3-kinase signaling	GO:0014068	9.84	KIT PDGFRA PDGFRB
9	cell chemotaxis	GO:0060326	9.83	KIT PDGFRA PDGFRB PRKCQ
10	peptidyl-tyrosine phosphorylation	GO:0018108	9.83	ABL1 KIT NTRK3 PDGFRA PDGFRB
11	visual learning	GO:0008542	9.79	BRAF KIT KRAS
12	positive regulation of kinase activity	GO:0033674	9.78	KIT NTRK3 PDGFRA PDGFRB
13	platelet-derived growth factor receptor signaling pathway	GO:0048008	9.75	ABL1 PDGFRA PDGFRB
14	tricarboxylic acid cycle	GO:0006099	9.74	SDHA SDHB SDHC
15	positive regulation of phosphatidylinositol 3-kinase activity	GO:0043552	9.73	KIT PDGFRA PDGFRB
16	transmembrane receptor protein tyrosine kinase signaling pathway	GO:0007169	9.72	ABL1 KIT NTRK3 PDGFRA PDGFRB
17	regulation of T cell differentiation	GO:0045580	9.68	ABL1 BRAF
18	succinate metabolic process	GO:0006105	9.67	SDHA SDHB
19	cardiac myofibril assembly	GO:0055003	9.67	ACTC1 PDGFRA PDGFRB
20	positive regulation of MAP kinase activity	GO:0043406	9.67	KIT KITLG KRAS PDGFRB
21	negative regulation of platelet-derived growth factor receptor-beta signaling pathway	GO:2000587	9.66	PDGFRA PDGFRB
22	retina vasculature development in camera-type eye	GO:0061298	9.65	PDGFRA PDGFRB
23	ectopic germ cell programmed cell death	GO:0035234	9.65	KIT KITLG
24	alpha-beta T cell differentiation	GO:0046632	9.65	ABL1 BRAF
25	myeloid progenitor cell differentiation	GO:0002318	9.64	BRAF KIT
26	mitochondrial electron transport, succinate to ubiquinone	GO:0006121	9.63	SDHA SDHC
27	platelet-derived growth factor receptor-beta signaling pathway	GO:0035791	9.61	ABL1 PDGFRB
28	positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	GO:0038091	9.59	PDGFRA PDGFRB
29	metanephric glomerular capillary formation	GO:0072277	9.58	PDGFRA PDGFRB
30	negative regulation of signal transduction	GO:0009968	9.55	BRAF KIT NTRK3 PDGFRA PDGFRB
31	positive regulation of phospholipase C activity	GO:0010863	9.43	KIT PDGFRA PDGFRB
32	positive regulation of ERK1 and ERK2 cascade	GO:0070374	9.43	ABL1 BRAF KIT NTRK3 PDGFRA PDGFRB
33	MAPK cascade	GO:0000165	9.17	BRAF KIT KITLG KRAS MEN1 PDGFRA
34	cell differentiation	GO:0030154	10.17	ABL1 BRAF ETV1 KIT NTRK3 PDGFRA
35	positive regulation of cell proliferation	GO:0008284	10.08	KIT KITLG KRAS NTRK3 PDGFRA PDGFRB
36	phosphorylation	GO:0016310	10.08	ABL1 BRAF KIT NTRK3 PDGFRA PDGFRB
37	protein phosphorylation	GO:0006468	10.05	ABL1 BRAF KIT NTRK3 PDGFRA PDGFRB
38	positive regulation of gene expression	GO:0010628	10.04	ACTC1 BRAF KIT KRAS NTRK3

Molecular functions related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	kinase activity	GO:0016301	9.98	ABL1 BRAF KIT NTRK3 PDGFRA PDGFRB
2	nucleotide binding	GO:0000166	9.93	BRAF KIT KRAS PDGFRA PDGFRB
3	protein kinase activity	GO:0004672	9.8	ABL1 BRAF KIT NTRK3 PDGFRA PDGFRB
4	protein tyrosine kinase activity	GO:0004713	9.77	ABL1 KIT NTRK3 PDGFRA PDGFRB
5	Ras guanyl-nucleotide exchange factor activity	GO:0005088	9.76	KIT KITLG PDGFRA PDGFRB
6	electron transfer activity	GO:0009055	9.73	SDHA SDHB SDHC
7	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	GO:0046934	9.71	KIT KITLG PDGFRA PDGFRB
8	growth factor binding	GO:0019838	9.67	KIT PDGFRA PDGFRB
9	transmembrane receptor protein tyrosine kinase activity	GO:0004714	9.62	KIT NTRK3 PDGFRA PDGFRB
10	platelet-derived growth factor receptor binding	GO:0005161	9.57	PDGFRA PDGFRB
11	platelet-derived growth factor binding	GO:0048407	9.55	PDGFRA PDGFRB
12	vascular endothelial growth factor binding	GO:0038085	9.51	PDGFRA PDGFRB
13	succinate dehydrogenase activity	GO:0000104	9.48	SDHA SDHC
14	MAP kinase kinase kinase activity	GO:0004709	9.35	BRAF KIT NTRK3 PDGFRA PDGFRB
15	succinate dehydrogenase (ubiquinone) activity	GO:0008177	9.33	SDHA SDHB SDHC
16	mitogen-activated protein kinase kinase binding	GO:0031434	9.02	BRAF KIT NTRK3 PDGFRA PDGFRB
17	ATP binding	GO:0005524	10.13	ABL1 ACTC1 BRAF KIT NTRK3 PDGFRA

Sources

Sources for Gastrointestinal Stromal Tumor

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Gastrointestinal Stromal Tumor

Aliases & Classifications for Gastrointestinal Stromal Tumor

MalaCards integrated aliases for Gastrointestinal Stromal Tumor:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Gastrointestinal Stromal Tumor

Related Diseases for Gastrointestinal Stromal Tumor

Diseases related to Gastrointestinal Stromal Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Gastrointestinal Stromal Tumor:

Symptoms & Phenotypes for Gastrointestinal Stromal Tumor

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Gastrointestinal Stromal Tumor:

GenomeRNAi Phenotypes related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor:

Drugs & Therapeutics for Gastrointestinal Stromal Tumor

FDA approved drugs:

Drugs for Gastrointestinal Stromal Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Inferred drug relations via UMLS 73 / NDF-RT 51 :

Cochrane evidence based reviews: gastrointestinal stromal tumors

Genetic Tests for Gastrointestinal Stromal Tumor

Anatomical Context for Gastrointestinal Stromal Tumor

MalaCards organs/tissues related to Gastrointestinal Stromal Tumor:

Publications for Gastrointestinal Stromal Tumor

Articles related to Gastrointestinal Stromal Tumor:

Genes for Gastrointestinal Stromal Tumor

Genes related to Gastrointestinal Stromal Tumor (7 elite genes):

Variations for Gastrointestinal Stromal Tumor

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

ClinVar genetic disease variations for Gastrointestinal Stromal Tumor:

Cosmic variations for Gastrointestinal Stromal Tumor:

Copy number variations for Gastrointestinal Stromal Tumor from CNVD:

Expression for Gastrointestinal Stromal Tumor

Pathways for Gastrointestinal Stromal Tumor

Pathways related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

GO Terms for Gastrointestinal Stromal Tumor

Cellular components related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

Biological processes related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

Molecular functions related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

Sources for Gastrointestinal Stromal Tumor

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :