GIST
MCID: GST019
MIFTS: 74

Gastrointestinal Stromal Tumor (GIST)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases

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 15
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:



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 carney triad and desmoid tumor. 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 Faslodex and Gleevec have been mentioned in the context of this disorder. Affiliated tissues include liver, small intestine and colon, and related phenotypes are dysphagia and nausea and vomiting

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...

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 341)
# Related Disease Score Top Affiliating Genes
1 carney triad 33.0 KIT PDGFRA SDHA SDHB SDHC
2 desmoid tumor 32.8 KIT PDGFRA PDGFRB
3 adenocarcinoma 31.1 BRAF KIT KRAS PDGFRB
4 fibromatosis 31.0 ACTC1 DES KIT VIM
5 leiomyoma 31.0 ACTC1 DES KIT VIM
6 neurofibromatosis, type iv, of riccardi 31.0 KIT PDGFRA SDHB SDHC
7 leiomyosarcoma 30.9 ACTC1 DES ENO2 KIT PDGFRA PDGFRB
8 paraganglioma 30.8 ENO2 SDHA SDHB SDHC
9 mastocytosis 30.6 KIT KITLG PDGFRA PDGFRB
10 neurofibroma 30.6 KIT KITLG PDGFRA
11 hemangiopericytoma, malignant 30.6 ACTC1 DES VIM
12 sarcoma 30.5 BRAF ETV1 HOTAIR KIT KRAS
13 spindle cell sarcoma 30.5 ACTC1 DES VIM
14 perivascular epithelioid cell tumor 30.5 ACTC1 DES KIT VIM
15 renal cell carcinoma, nonpapillary 30.5 FLT3 HOTAIR KIT PDGFRB SDHB VIM
16 pheochromocytoma 30.5 ENO2 MEN1 SDHA SDHB SDHC
17 inflammatory myofibroblastic tumor 30.5 ACTC1 DES KIT VIM
18 malignant peripheral nerve sheath tumor 30.5 ACTC1 KIT PDGFRA VIM
19 granular cell tumor 30.5 DES ENO2 VIM
20 sarcoma, synovial 30.4 DES KIT VIM
21 glomus tumor 30.4 ACTC1 DES ENO2 SDHB VIM
22 dermatofibrosarcoma protuberans 30.4 ACTC1 DES KIT PDGFRA PDGFRB VIM
23 renal cell carcinoma, papillary, 1 30.3 BRAF KIT SDHB
24 chondroma 30.3 ACTC1 SDHB SDHC
25 angiomyolipoma 30.2 ACTC1 DES KIT
26 desmoplastic small round cell tumor 30.2 DES ENO2 VIM
27 systemic mastocytosis 30.2 KIT KITLG PDGFRA PDGFRB
28 neurilemmoma 30.2 DES ENO2 KIT PDGFRA VIM
29 undifferentiated pleomorphic sarcoma 30.1 KIT KRAS PDGFRA
30 angiosarcoma 30.1 KIT KRAS VIM
31 glomangioma 30.1 ACTC1 DES
32 amelanotic melanoma 30.1 BRAF KIT VIM
33 multiple endocrine neoplasia 30.1 MEN1 SDHB SDHC
34 ewing sarcoma 30.0 DES ENO2 ETV1 KIT KITLG PDGFRA
35 leukemia, chronic myeloid 29.9 ABL1 FLT3 HOTAIR KIT KITLG PDGFRA
36 myelodysplastic syndrome 29.8 ABL1 FLT3 KIT KITLG KRAS PDGFRB
37 leukemia, acute myeloid 29.6 ABL1 CCDC26 FLT3 HOTAIR KIT KITLG
38 myeloma, multiple 29.6 BRAF HOTAIR KIT KRAS
39 paraganglioma and gastric stromal sarcoma 12.1
40 plexosarcoma 11.5
41 neurofibromatosis, type i 10.6
42 intussusception 10.4
43 ovarian fibrothecoma 10.4 ACTC1 DES KIT
44 angiolipoma 10.4 ACTC1 DES VIM
45 neural crest tumor 10.4 SDHA SDHB SDHC
46 lymphangiectasis 10.4 ACTC1 VIM
47 infantile digital fibromatosis 10.4 DES VIM
48 cutaneous leiomyosarcoma 10.4 ACTC1 DES VIM
49 cystic nephroma 10.4 DES KIT VIM
50 spindle cell lipoma 10.4 ACTC1 DES VIM

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



Diseases related to Gastrointestinal Stromal Tumor

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

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

26 (show top 50) (show all 53)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.92 BRAF KRAS
2 Decreased viability GR00106-A-0 10.92 KRAS
3 Decreased viability GR00107-A-1 10.92 PRKCQ
4 Decreased viability GR00173-A 10.92 FLT3 PDGFRA PRKCQ
5 Decreased viability GR00221-A-1 10.92 FLT3 PDGFRA PDGFRB PRKCQ ABL1 KIT
6 Decreased viability GR00221-A-2 10.92 PRKCQ ABL1 KRAS
7 Decreased viability GR00221-A-3 10.92 PDGFRA PDGFRB PRKCQ ABL1
8 Decreased viability GR00221-A-4 10.92 BRAF FLT3 PDGFRA PDGFRB PRKCQ
9 Decreased viability GR00301-A 10.92 BRAF KIT KRAS
10 Decreased viability GR00342-S-1 10.92 PDGFRB ABL1
11 Decreased viability GR00342-S-2 10.92 ABL1
12 Decreased viability GR00342-S-3 10.92 ABL1
13 Decreased viability GR00381-A-1 10.92 BRAF KRAS
14 Decreased viability GR00402-S-2 10.92 BRAF FLT3 PDGFRA PDGFRB PRKCQ ABL1
15 Decreased viability in esophageal squamous lineage GR00235-A 10 ABL1 BRAF DES FLT3 KIT KRAS
16 Decreased substrate adherent cell growth GR00193-A-1 9.97 KIT
17 Decreased substrate adherent cell growth GR00193-A-2 9.97 ABL1 KIT
18 Decreased substrate adherent cell growth GR00193-A-3 9.97 BRAF
19 Decreased substrate adherent cell growth GR00193-A-4 9.97 ABL1 BRAF FLT3 KIT
20 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.94 VIM
21 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.94 ETV1 KRAS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.94 BRAF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.94 MEN1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.94 KRAS
25 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.94 MEN1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.94 ETV1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.94 MEN1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.94 VIM
29 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.94 BRAF
30 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.94 BRAF
31 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.94 KRAS
32 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.94 VIM
33 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.94 BRAF ETV1 KRAS MEN1 VIM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.94 VIM
35 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.94 VIM
36 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.94 BRAF
37 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.94 KRAS
38 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.94 KRAS
39 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.94 BRAF VIM
40 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.94 VIM
41 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.94 BRAF
42 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.94 BRAF
43 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.94 MEN1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.94 BRAF MEN1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.94 KRAS MEN1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.94 KRAS
47 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.94 KRAS VIM
48 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.94 MEN1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.94 VIM
50 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.94 ETV1 KRAS

MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.46 ABL1 ACTC1 BRAF DES ENO2 ETV1
2 homeostasis/metabolism MP:0005376 10.41 ABL1 ACTC1 BRAF DES FLT3 KIT
3 mortality/aging MP:0010768 10.41 ABL1 ACTC1 BRAF DES ETV1 FLT3
4 cardiovascular system MP:0005385 10.4 ABL1 ACTC1 BRAF DES KIT KITLG
5 growth/size/body region MP:0005378 10.35 ABL1 ACTC1 BRAF ENO2 ETV1 FLT3
6 hematopoietic system MP:0005397 10.3 ABL1 BRAF FLT3 KIT KITLG KRAS
7 endocrine/exocrine gland MP:0005379 10.29 ABL1 BRAF FLT3 KIT KITLG KRAS
8 immune system MP:0005387 10.24 ABL1 BRAF FLT3 KIT KITLG KRAS
9 craniofacial MP:0005382 10.23 ABL1 BRAF ENO2 KIT KITLG KRAS
10 muscle MP:0005369 10.23 ABL1 ACTC1 BRAF DES ETV1 KIT
11 digestive/alimentary MP:0005381 10.22 ABL1 BRAF KIT KITLG KRAS MEN1
12 embryo MP:0005380 10.21 ABL1 BRAF KIT KITLG KRAS MEN1
13 nervous system MP:0003631 10.18 ABL1 BRAF ENO2 ETV1 KIT KITLG
14 neoplasm MP:0002006 10.09 BRAF FLT3 KIT KITLG KRAS MEN1
15 normal MP:0002873 10.02 ABL1 ACTC1 BRAF ETV1 KIT KRAS
16 reproductive system MP:0005389 9.91 BRAF KIT KITLG KRAS MEN1 PDGFRA
17 pigmentation MP:0001186 9.8 BRAF KIT KITLG KRAS PDGFRA PRKCQ
18 respiratory system MP:0005388 9.76 ABL1 BRAF ENO2 KIT KRAS PDGFRA
19 skeleton MP:0005390 9.61 ABL1 BRAF FLT3 KIT KITLG KRAS
20 vision/eye MP:0005391 9.23 ABL1 BRAF KIT KITLG KRAS PDGFRB

Drugs & Therapeutics for Gastrointestinal Stromal Tumor

FDA approved drugs:

(show all 7)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Faslodex 18 49 FULVESTRANT AstraZeneca April 2002
2
Gleevec 18 49 IMATINIB MESYLATE Novartis May 2001
3
Keytruda 18 49 PEMBROLIZUMAB Merck September 2014
4
Stivarga 18 49 REGORAFENIB Bayer/ Bayer HealthCare Pharmaceuticals February 2013/ September 2012
5
Sutent 18 49 SUNITINIB MALATE Pfizer May 2011/ January 2006
6
Votrient 18 49 PAZOPANIB HYDROCHLORIDE GlaxoSmithKline April 2012/ October of 2009
7
Yervoy 18 49 IPILIMUMAB Bristol-Myers Squibb March 2011

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

(show top 50) (show all 174)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxaliplatin Approved, Investigational Phase 4,Phase 1 61825-94-3 43805 6857599 5310940 9887054
2
Sunitinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 557795-19-4, 341031-54-7 5329102
3
Everolimus Approved Phase 4,Phase 1,Phase 2 159351-69-6 6442177
4
Sirolimus Approved, Investigational Phase 4,Phase 1,Phase 2 53123-88-9 46835353 6436030 5284616
5
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 4594 9579578
6
Caffeine Approved Phase 4 58-08-2 2519
7
Midazolam Approved, Illicit Phase 4,Phase 1 59467-70-8 4192
8 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Cola Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Imatinib Mesylate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 220127-57-1 123596
13 Protein Kinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Anesthetics Phase 4,Phase 3,Phase 1,Not Applicable
15 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
16 Immunosuppressive Agents Phase 4,Phase 1,Phase 2
17 Antacids Phase 4
18 Gastrointestinal Agents Phase 4,Phase 2
19 Anti-Ulcer Agents Phase 4
20 Proton Pump Inhibitors Phase 4
21 Anesthetics, General Phase 4,Phase 3,Phase 1
22 Adjuvants, Anesthesia Phase 4,Phase 3,Phase 1
23 GABA Modulators Phase 4,Phase 1
24 Hypnotics and Sedatives Phase 4,Phase 1
25 Anesthetics, Intravenous Phase 4,Phase 3,Phase 1
26 Pharmaceutical Solutions Phase 4,Phase 3
27 GABA Agents Phase 4,Phase 1
28 Central Nervous System Stimulants Phase 4
29 Neurotransmitter Agents Phase 4,Phase 1
30 Tranquilizing Agents Phase 4,Phase 1
31 Phosphodiesterase Inhibitors Phase 4
32 Anti-Anxiety Agents Phase 4,Phase 1
33 Purinergic P1 Receptor Antagonists Phase 4
34
Erlotinib Hydrochloride Phase 4,Phase 1 183319-69-9 176871
35 Psychotropic Drugs Phase 4,Phase 1
36 Central Nervous System Depressants Phase 4,Phase 3,Phase 1
37
Formaldehyde Approved, Vet_approved Phase 3 50-00-0 712
38
Bevacizumab Approved, Investigational Phase 3,Phase 2,Phase 1 216974-75-3
39
Dasatinib Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 302962-49-8 3062316
40 Orange Approved Phase 2, Phase 3
41
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
42
Lactitol Investigational Phase 2, Phase 3 585-86-4 3871
43
Crenolanib Investigational Phase 3,Phase 2 670220-88-9 10366136
44 Pancreatic Polypeptide Investigational Phase 3,Phase 1 59763-91-6
45 tyrosine Phase 3,Phase 2,Phase 1,Not Applicable
46 Immunoglobulins Phase 3,Phase 2,Phase 1
47 Antibodies Phase 3,Phase 2,Phase 1
48 Immunoglobulin G Phase 3
49 Antibodies, Monoclonal Phase 3,Phase 2,Phase 1
50 Endothelial Growth Factors Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 286)
# 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 Treatment of Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumors in First Line With Nilotinib Active, not recruiting NCT00756509 Phase 4 Nilotinib
4 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)
5 Post-Marketing Clinical Study of Postoperative Adjuvant Therapy With Imatinib Mesylate in Patients With Gastrointestinal Stromal Tumors (GIST) Completed NCT00171977 Phase 4 Imatinib Mesylate
6 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
7 The Effects of the Proton Pump Inhibitor Esomeprazole on the Bioavailability of Regorafenib Completed NCT02800330 Phase 4 Esomeprazole 40mg concomitantly;Esomeprazole 40mg before;Regorafenib 160mg or 120mg
8 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
9 Imatinib Mesylate in Treating Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumor Unknown status NCT00685828 Phase 3 imatinib mesylate
10 EUS-FNB vs. Single-incision Needle-knife (SINK) Biopsy for Gastrointestinal SELs Unknown status NCT02866045 Phase 3
11 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
12 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
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 Masitinib in Patients With Gastrointestinal Stromal Tumour After Progression With Imatinib Recruiting NCT01694277 Phase 3 Masitinib;Sunitinib
15 Masitinib in First Line Treatment of Gastro-Intestinal Stromal Tumor (GIST) Terminated NCT00812240 Phase 3 Masitinib;Imatinib
16 Efficacy of Nilotinib in Adult Patients With Gastrointestinal Stromal Tumors Resistant to Imatinib and Sunitinib. Completed NCT01289028 Phase 3 Nilotinib
17 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
18 Imatinib Mesylate With or Without Bevacizumab in Treating Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumor Terminated NCT00324987 Phase 3 Imatinib Mesylate
19 Open-label Trial of GlivecWith Unresectable or Metastatic Malignant Gastrointestinal Stromal Tumors Completed NCT00293124 Phase 3 Glivec
20 Safety And Effectiveness Of Daily Dosing With Sunitinib Or Imatinib In Patients With Gastrointestinal Stromal Tumors Terminated NCT00372567 Phase 3 sunitinib malate;imatinib mesylate
21 Comparison of Two Different Doses of STI571 in Treating Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumor Terminated NCT00009906 Phase 3 Imatinib Mesylate
22 Imatinib Mesylate in Treating Patients With Primary Gastrointestinal Stromal Tumor That Has Been Completely Removed By Surgery Completed NCT00041197 Phase 3 imatinib mesylate
23 A Study To Assess The Safety And Efficacy Of SU11248 In Patients With Gastrointestinal Stromal Tumor(GIST) Completed NCT00075218 Phase 3 Placebo;SU011248
24 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
25 L-carnitine vs Placebo for the Treatment of Muscle Cramps After Imatinib in Gastrointestinal Stromal Tumors Recruiting NCT03426722 Phase 3 L-carnitine;Placebo
26 Detection of CF-DNA in Patients With Gastrointestinal Stromal Tumors (GIST) Completed NCT01462994 Phase 3
27 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
28 Masitinib in Patients With Localized, Primary GIST After Complete Surgery and With High Risk of Recurrence Terminated NCT02009423 Phase 3 Masitinib;Placebo
29 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
30 Rechallenge of Imatinib in GIST Having no Effective Treatment Completed NCT01151852 Phase 3 Imatinib;Placebo
31 A Study of Nilotinib Versus Imatinib in GIST Patients Completed NCT00785785 Phase 3 Nilotinib (AMN107);imatinib (STI571)
32 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
33 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
34 A Study of DCC-2618 vs Sunitinib in Advanced GIST Patients After Treatment With Imatinib Recruiting NCT03673501 Phase 3 DCC-2618;Sunitinib
35 Phase 3 Study of DCC-2618 vs Placebo in Advanced GIST Patients Who Have Been Treated With Prior Anticancer Therapies Active, not recruiting NCT03353753 Phase 3 DCC-2618;Placebo Oral Tablet
36 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®
37 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
38 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
39 Caphosol in Oral Mucositis Due to Targeted Therapy Completed NCT01265810 Phase 3
40 (VOYAGER) Study of Avapritinib vs Regorafenib in Patients With Locally Advanced Unresectable or Metastatic GIST Recruiting NCT03465722 Phase 3 avapritinib;regorafenib
41 Randomized Trial of Crenolanib in Subjects With D842V Mutated GIST Recruiting NCT02847429 Phase 3 Crenolanib;Placebo
42 Three Versus Five Years of Adjuvant Imatinib as Treatment of Patients With Operable GIST Recruiting NCT02413736 Phase 3 Imatinib
43 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
44 Safety and Efficacy of OP2000 (Deligoparin) in the Treatment of Active Ulcerative Colitis Completed NCT00033943 Phase 2, Phase 3 deligoparin
45 Gleevec Administered Preoperatively to Reduce Gastrointestinal Stromal Tumor (GIST) Unknown status NCT00290485 Phase 2 Imatinib mesylate
46 Regorafenib in GIST With Secondary C-KIT Exon 17 Mutation Unknown status NCT02606097 Phase 2 regorafenib
47 MITIGATE-NeoBOM: A Study to Evaluate 68Ga- NeoBOMB1 in Patients With Advanced TKI-treated GIST Using PET/CT Unknown status NCT02931929 Phase 1, Phase 2 68Ga-NeoBOMB1, 2-vial kit
48 Ph II of Capecitabine, Carboplatin & Bevacizumab for Gastroesophageal Junction & Gastric Carcinoma Unknown status NCT00780494 Phase 2 bevacizumab;carboplatin;capecitabine
49 Salvage Therapy With Sunitinib,Docetaxel and Platinum on Metastatic or Unresectable Non Small Cell Lung Cancer Unknown status NCT01019798 Phase 2 sunitinib, docetaxel, cisplatin
50 Docetaxel With or Without Low-dose, Short Course Sunitinib in Refractory Solid Tumors Unknown status NCT01803503 Phase 2 Docetaxel;Sunitinib

Search NIH Clinical Center for Gastrointestinal Stromal Tumor

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:

41
Liver, Small Intestine, Colon, Bone, Smooth Muscle, Prostate, Pancreas

Publications for Gastrointestinal Stromal Tumor

Articles related to Gastrointestinal Stromal Tumor:

(show top 50) (show all 2179)
# Title Authors Year
1
Neferine inhibits growth and migration of gastrointestinal stromal tumor cell line GIST-T1 by up-regulation of miR-449a. ( 30551450 )
2019
2
Metastatic Cutaneous Duodenal Gastrointestinal Stromal Tumor: A Possible Clue to Multiple Metastases. ( 29853751 )
2018
3
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 )
2018
4
Early Evaluation of Response Using<sup>18</sup>F-FDG PET Influences Management in Gastrointestinal Stromal Tumor Patients Treated with Neoadjuvant Imatinib. ( 28970330 )
2018
5
A gastrointestinal stromal tumor of the jejunum presenting with an intratumoral abscess: A case report and a literature review. ( 29859449 )
2018
6
Robot-assisted laparoscopic surgery for abdominal metastatic melanoma mimicking a gastrointestinal stromal tumor: A case report and review of the literature. ( 29952974 )
2018
7
Postoperative imatinib in patients with intermediate risk gastrointestinal stromal tumor. ( 29969914 )
2018
8
Molecular characterization and pathogenesis of gastrointestinal stromal tumor. ( 29441367 )
2018
9
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 )
2018
10
CCDC26 knockdown enhances resistance of gastrointestinal stromal tumor cells to imatinib by interacting with c-KIT. ( 29423012 )
2018
11
Gastrointestinal Stromal Tumor Metastasis to the Orbit. ( 29879082 )
2018
12
Invited Response Letter: &amp;quot;Gastrointestinal Stromal Tumor After Laparoscopic Sleeve Gastrectomy: Be Awake Before, During, and After a Bariatric Procedure&amp;quot;. ( 29717404 )
2018
13
Gastric inflammatory fibroid polyp tumor with acute intestinal obstruction-Vanek's tumor can mimick a giant gastrointestinal stromal tumor or a gastric lymphoma. ( 29682464 )
2018
14
Gastrointestinal stromal tumor of the esophagus: current issues of diagnosis, surgery and drug therapy. ( 29441371 )
2018
15
Ectopic pancreas mimicking gastrointestinal stromal tumor in the stomach fundus. ( 29742764 )
2018
16
Effect of Gastrointestinal Bleeding on Gastrointestinal Stromal Tumor Patients: A Retrospective Cohort Study. ( 29346334 )
2018
17
The rare coexistence of high titer inhibitor development and gastrointestinal stromal tumor in a patient with severe hemophilia: A case report. ( 29724628 )
2018
18
Primary Gastric Synovial Sarcoma Mimicking a Gastrointestinal Stromal Tumor (GIST) : Gastric Synovial Sarcoma. ( 29313287 )
2018
19
Gastrointestinal stromal tumor enhancers support a transcription factor network predictive of clinical outcome. ( 29866822 )
2018
20
Robotic-assisted endoscopic full-thickness resection of a gastrointestinal stromal tumor: the tip of the iceberg. ( 29895065 )
2018
21
An Ulcerated Ileal Gastrointestinal Stromal Tumor Disguised as Acute Appendicitis. ( 29971179 )
2018
22
FoxM1 is regulated by both HIF-1I+ and HIF-2I+ and contributes to gastrointestinal stromal tumor progression. ( 29948390 )
2018
23
Imatinib-induced Hepatitis in a Patient Treated for Gastrointestinal Stromal Tumor: A Rare Adverse Effect. ( 29942731 )
2018
24
Gastroduodenal intussusception and pylorus obstruction induced by a c-KIT-negative gastric gastrointestinal stromal tumor: case report and review of the literature. ( 29346826 )
2018
25
Intraductal papillary bile duct adenocarcinoma and gastrointestinal stromal tumor in a case of neurofibromatosis type 1. ( 29398874 )
2018
26
Cytomorphology of epithelioid gastrointestinal stromal tumor. ( 29732727 )
2018
27
Differential diagnosis of gastrointestinal stromal tumor by histopathology and immunohistochemistry. ( 29971258 )
2018
28
Gastrointestinal Stromal Tumor With Multiple Primary Tyrosine Kinase Mutations-Clinicopathologic and Molecular Characterization. ( 29734250 )
2018
29
Neoadjuvant therapy for gastrointestinal stromal tumor. ( 29441368 )
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 )
2018
31
Subsequent Development of Desmoid Tumor after a Resected Gastrointestinal Stromal Tumor. ( 29854525 )
2018
32
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 )
2018
33
Tumor necrosis and &amp;gt;20A mitoses per 50 high-power fields can distinguish 'very high-risk' and 'highest-risk' within 'high-risk' gastric gastrointestinal stromal tumor. ( 29411689 )
2018
34
Oncogene mutational analysis in Chinese gastrointestinal stromal tumor patients. ( 29719410 )
2018
35
Acute Posterior Multifocal Placoid Pigment Epitheliopathy Associated with Gastrointestinal Stromal Tumor and Hurthle Cell Tumor. ( 30405928 )
2018
36
Endoscopic Submucosal Dissection for Gastric-phenotype Adenoma on the Surface of Gastric Gastrointestinal Stromal Tumor. ( 30210112 )
2018
37
BLU-285-the breakthrough in treatment of patients with aggressive systemic mastocytosis and gastrointestinal stromal tumor. ( 30023395 )
2018
38
The Relationship Between Confrontation Naming and Story Gist Production in Aphasia. ( 29497752 )
2018
39
Simultaneous occurrence of splenic diffuse large B cell lymphoma and gastrointestinal stromal tumor in the stomach: a case report. ( 30144813 )
2018
40
Laparoscopic Resection of Desmoid Type Fibromatosis of the Splenic Hilum Mimicking a Greater Curvature Gastric GIST. ( 30158041 )
2018
41
Mir-22-3p Enhances the Chemosensitivity of Gastrointestinal Stromal Tumor Cell Lines to Cisplatin through PTEN/PI3K/Akt Pathway. ( 30537795 )
2018
42
Liver surgery prolongs the survival of patients with gastrointestinal stromal tumor liver metastasis: a retrospective study from a single center. ( 30538560 )
2018
43
Serum miR-518e-5p is a potential biomarker for secondary imatinib-resistant gastrointestinal stromal tumor. ( 30541960 )
2018
44
A Rare Case of a Ruptured Metastatic Hepatic Lesion from a Jejunal Gastrointestinal Stromal Tumor (GIST) Treated by Arterial Embolization. ( 30542049 )
2018
45
Giant gastrointestinal stromal tumor of the mediastinum associated with an esophageal hiatal hernia and chest discomfort: a case report. ( 30547235 )
2018
46
Invited Response Letter to the Letter "Our Experience Regarding the Association between Gastrointestinal Stromal Tumor and Bariatric Surgery. A Response to a Letter "Gastrointestinal Stromal Tumor After Laparoscopic Sleeve Gastrectomy: Be Awake Before, During, and After a Bariatric Procedure". ( 30547279 )
2018
47
Our Experience Regarding the Association Between Gastrointestinal Stromal Tumor and Bariatric Surgery: a Response to a Letter "Gastrointestinal Stromal Tumor After Laparoscopic Sleeve Gastrectomy: Be Awake Before, During, and After a Bariatric Procedure". ( 30554306 )
2018
48
A Jejunal Dieulafoy's Lesion Mimicking a Gastrointestinal Stromal Tumor. ( 30554992 )
2018
49
Mitochondrial Inhibition Augments the Efficacy of Imatinib by Resetting the Metabolic Phenotype of Gastrointestinal Stromal Tumor. ( 29246941 )
2018
50
Cerebellar metastasis of gastrointestinal stromal tumor: A case report and review of the literature. ( 29248834 )
2018

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 3419)
# 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 Conflicting interpretations of pathogenicity, other, risk factor rs1801131 GRCh37 Chromosome 1, 11854476: 11854476
4 MTHFR NM_005957.4(MTHFR): c.1286A> C (p.Glu429Ala) single nucleotide variant Conflicting interpretations of pathogenicity, other, risk factor rs1801131 GRCh38 Chromosome 1, 11794419: 11794419
5 MTRR NM_002454.2(MTRR): c.66A> G (p.Ile22Met) single nucleotide variant drug response rs1801394 GRCh37 Chromosome 5, 7870973: 7870973
6 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 SDHB NM_003000.2(SDHB): c.8C> G (p.Ala3Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs11203289 GRCh37 Chromosome 1, 17380507: 17380507
20 SDHB NM_003000.2(SDHB): c.8C> G (p.Ala3Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs11203289 GRCh38 Chromosome 1, 17054012: 17054012
21 SDHB NM_003000.2(SDHB): c.487T> C (p.Ser163Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs33927012 GRCh37 Chromosome 1, 17354297: 17354297
22 SDHB NM_003000.2(SDHB): c.487T> C (p.Ser163Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs33927012 GRCh38 Chromosome 1, 17027802: 17027802
23 PDGFRA NM_006206.5(PDGFRA): c.2525A> T (p.Asp842Val) single nucleotide variant Pathogenic rs121908585 GRCh37 Chromosome 4, 55152093: 55152093
24 PDGFRA NM_006206.5(PDGFRA): c.2525A> T (p.Asp842Val) single nucleotide variant Pathogenic rs121908585 GRCh38 Chromosome 4, 54285926: 54285926
25 PDGFRA NM_006206.5(PDGFRA): c.2526_2537delCATCATGCATGA (p.Ile843_Asp846del) deletion Pathogenic/Likely pathogenic rs587776792 GRCh38 Chromosome 4, 54285927: 54285938
26 PDGFRA NM_006206.5(PDGFRA): c.2526_2537delCATCATGCATGA (p.Ile843_Asp846del) deletion Pathogenic/Likely pathogenic rs587776792 GRCh37 Chromosome 4, 55152094: 55152105
27 PDGFRA NM_006206.5(PDGFRA): c.2533_2544delCATGATTCGAAC (p.His845_Asn848del) deletion Pathogenic rs587776793 GRCh37 Chromosome 4, 55152101: 55152112
28 PDGFRA NM_006206.5(PDGFRA): c.2533_2544delCATGATTCGAAC (p.His845_Asn848del) deletion Pathogenic rs587776793 GRCh38 Chromosome 4, 54285934: 54285945
29 PDGFRA NM_006206.5(PDGFRA): c.1682T> A (p.Val561Asp) single nucleotide variant Pathogenic rs121908586 GRCh37 Chromosome 4, 55141036: 55141036
30 PDGFRA NM_006206.5(PDGFRA): c.1682T> A (p.Val561Asp) single nucleotide variant Pathogenic rs121908586 GRCh38 Chromosome 4, 54274869: 54274869
31 PDGFRA NM_006206.5(PDGFRA): c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg) insertion Pathogenic rs587776794 GRCh38 Chromosome 4, 54274868: 54274869
32 PDGFRA NM_006206.5(PDGFRA): c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg) insertion Pathogenic rs587776794 GRCh37 Chromosome 4, 55141035: 55141036
33 PDGFRA NM_006206.5(PDGFRA): c.1679_1693delGGGTCATTGAATCAA (p.Arg560_Ser564del) deletion Pathogenic rs587776795 GRCh38 Chromosome 4, 54274866: 54274880
34 PDGFRA NM_006206.5(PDGFRA): c.1679_1693delGGGTCATTGAATCAA (p.Arg560_Ser564del) deletion Pathogenic rs587776795 GRCh37 Chromosome 4, 55141033: 55141047
35 PDGFRA NM_006206.5(PDGFRA): c.1696_1713del18 (p.Ser566_Glu571del) deletion Pathogenic rs121913271 GRCh38 Chromosome 4, 54274883: 54274900
36 PDGFRA NM_006206.5(PDGFRA): c.1696_1713del18 (p.Ser566_Glu571del) deletion Pathogenic rs121913271 GRCh37 Chromosome 4, 55141050: 55141067
37 PDGFRA NM_006206.5(PDGFRA): c.2536G> T (p.Asp846Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121908588 GRCh37 Chromosome 4, 55152104: 55152104
38 PDGFRA NM_006206.5(PDGFRA): c.2536G> T (p.Asp846Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121908588 GRCh38 Chromosome 4, 54285937: 54285937
39 PDGFRA NM_006206.5(PDGFRA): c.1664A> G (p.Tyr555Cys) single nucleotide variant Pathogenic rs121908589 GRCh37 Chromosome 4, 55141018: 55141018
40 PDGFRA NM_006206.5(PDGFRA): c.1664A> G (p.Tyr555Cys) single nucleotide variant Pathogenic rs121908589 GRCh38 Chromosome 4, 54274851: 54274851
41 KIT NM_000222.2(KIT): c.1676_1681delTTGTTG (p.Val559_Val560del) deletion Pathogenic rs587776803 GRCh38 Chromosome 4, 54727444: 54727449
42 KIT NM_000222.2(KIT): c.1676_1681delTTGTTG (p.Val559_Val560del) deletion Pathogenic rs587776803 GRCh37 Chromosome 4, 55593610: 55593615
43 KIT NM_000222.2(KIT): c.2447A> T (p.Asp816Val) single nucleotide variant Uncertain significance rs121913507 GRCh37 Chromosome 4, 55599321: 55599321
44 KIT NM_000222.2(KIT): c.2447A> T (p.Asp816Val) single nucleotide variant Uncertain significance rs121913507 GRCh38 Chromosome 4, 54733155: 54733155
45 KIT NM_000222.2(KIT): c.1652_1666delCCATGTATGAAGTAC (p.Pro551_Val555del) deletion Pathogenic rs587776804 GRCh37 Chromosome 4, 55593586: 55593600
46 KIT NM_000222.2(KIT): c.1652_1666delCCATGTATGAAGTAC (p.Pro551_Val555del) deletion Pathogenic rs587776804 GRCh38 Chromosome 4, 54727420: 54727434
47 KIT KIT, 15-BP DEL AND LYS550ILE deletion Pathogenic
48 KIT NM_000222.2(KIT): c.1676T> A (p.Val559Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh37 Chromosome 4, 55593610: 55593610
49 KIT NM_000222.2(KIT): c.1676T> A (p.Val559Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh38 Chromosome 4, 54727444: 54727444
50 KIT NM_000222.2(KIT): c.1648_1674del27 (p.Lys550_Lys558del) deletion Pathogenic rs121913234 GRCh38 Chromosome 4, 54727416: 54727442

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

Expression for Gastrointestinal Stromal Tumor

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

Pathways for Gastrointestinal Stromal Tumor

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

(show all 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 ABL1 BRAF DES FLT3 KIT KITLG
2
Show member pathways
13.53 BRAF FLT3 KIT KITLG KRAS PDGFRA
3
Show member pathways
13.46 ABL1 BRAF KIT KITLG KRAS PDGFRA
4
Show member pathways
13.38 ETV1 FLT3 KIT KITLG KRAS PDGFRA
5
Show member pathways
13.32 BRAF FLT3 KIT KITLG KRAS PDGFRA
6
Show member pathways
13.29 FLT3 KIT KITLG KRAS PDGFRA PDGFRB
7
Show member pathways
13.16 BRAF FLT3 KIT KITLG KRAS PDGFRA
8
Show member pathways
13.02 KIT KITLG KRAS PDGFRA PDGFRB PRKCQ
9
Show member pathways
13 BRAF KIT KITLG KRAS PDGFRA PDGFRB
10
Show member pathways
12.96 FLT3 KIT KITLG KRAS PDGFRA PDGFRB
11
Show member pathways
12.84 BRAF KIT KITLG KRAS PDGFRA PDGFRB
12
Show member pathways
12.83 BRAF KRAS PDGFRA PDGFRB PRKCQ
13
Show member pathways
12.78 ABL1 BRAF FLT3 KIT KRAS PDGFRA
14
Show member pathways
12.74 BRAF KRAS PDGFRA PDGFRB PRKCQ
15
Show member pathways
12.69 KIT KITLG KRAS PDGFRA PDGFRB
16
Show member pathways
12.65 BRAF KRAS PDGFRA PDGFRB PRKCQ
17 12.64 ABL1 BRAF FLT3 KIT KITLG KRAS
18 12.62 BRAF FLT3 KIT KITLG KRAS PDGFRA
19 12.49 ABL1 KRAS PDGFRA PDGFRB VIM
20
Show member pathways
12.4 KRAS PDGFRA PDGFRB PRKCQ
21
Show member pathways
12.39 BRAF KIT KITLG KRAS MEN1
22
Show member pathways
12.33 KIT KITLG KRAS PDGFRA PDGFRB
23
Show member pathways
12.29 ENO2 SDHA SDHB SDHC
24
Show member pathways
12.27 BRAF FLT3 KIT KITLG KRAS PDGFRA
25
Show member pathways
12.2 ABL1 KIT KITLG KRAS PDGFRA PDGFRB
26
Show member pathways
12.2 ABL1 BRAF FLT3 KIT KITLG KRAS
27
Show member pathways
12.17 BRAF KRAS PDGFRA PDGFRB
28 11.94 BRAF KRAS PDGFRA PDGFRB
29
Show member pathways
11.87 ENO2 SDHA SDHB SDHC
30 11.86 FLT3 KIT KITLG
31 11.8 KRAS PDGFRA PDGFRB
32 11.8 ABL1 FLT3 KIT KITLG PDGFRA PDGFRB
33 11.71 BRAF KITLG KRAS PDGFRA PDGFRB
34
Show member pathways
11.71 ABL1 KIT PDGFRA PDGFRB
35 11.7 ACTC1 DES VIM
36 11.54 ACTC1 KIT PDGFRA
37 11.47 FLT3 KIT KRAS PDGFRA PDGFRB
38 11.46 PDGFRA PDGFRB PRKCQ
39 11.37 BRAF KRAS PDGFRA PDGFRB PRKCQ
40 11.29 BRAF KRAS PDGFRA PDGFRB
41 11.28 ABL1 KRAS PRKCQ
42 11.18 BRAF KRAS PRKCQ
43
Show member pathways
11.02 BRAF FLT3 KIT KRAS PDGFRB PRKCQ
44 10.92 DES FLT3 KIT KITLG PDGFRA PDGFRB
45 10.84 PDGFRA PDGFRB

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 FLT3 KIT 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
4 membrane GO:0016020 10.2 ABL1 ACTC1 BRAF DES ENO2 FLT3
5 cytoplasm GO:0005737 10.1 ABL1 ACTC1 BRAF DES ENO2 FLT3

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.94 KIT KITLG PDGFRA PDGFRB
2 positive regulation of MAPK cascade GO:0043410 9.91 FLT3 KIT PDGFRA PDGFRB
3 negative regulation of signal transduction GO:0009968 9.88 FLT3 KIT PDGFRA PDGFRB
4 phosphatidylinositol phosphorylation GO:0046854 9.86 KIT KITLG PDGFRA PDGFRB
5 electron transport chain GO:0022900 9.85 SDHA SDHB SDHC
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.85 FLT3 KIT PDGFRA PDGFRB
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.85 ABL1 BRAF FLT3 KIT PDGFRA PDGFRB
8 cell chemotaxis GO:0060326 9.84 KIT PDGFRA PDGFRB PRKCQ
9 protein autophosphorylation GO:0046777 9.83 ABL1 FLT3 KIT PDGFRA PDGFRB
10 visual learning GO:0008542 9.81 BRAF KIT KRAS
11 muscle filament sliding GO:0030049 9.79 ACTC1 DES VIM
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.78 FLT3 KIT PDGFRA PDGFRB
13 tricarboxylic acid cycle GO:0006099 9.76 SDHA SDHB SDHC
14 platelet-derived growth factor receptor signaling pathway GO:0048008 9.74 ABL1 PDGFRA PDGFRB
15 cardiac myofibril assembly GO:0055003 9.69 ACTC1 PDGFRA PDGFRB
16 regulation of T cell differentiation GO:0045580 9.67 ABL1 BRAF
17 succinate metabolic process GO:0006105 9.67 SDHA SDHB
18 Bergmann glial cell differentiation GO:0060020 9.66 ABL1 VIM
19 retina vasculature development in camera-type eye GO:0061298 9.66 PDGFRA PDGFRB
20 alpha-beta T cell differentiation GO:0046632 9.65 ABL1 BRAF
21 ectopic germ cell programmed cell death GO:0035234 9.65 KIT KITLG
22 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.64 SDHA SDHC
23 peptidyl-tyrosine phosphorylation GO:0018108 9.63 ABL1 BRAF FLT3 KIT PDGFRA PDGFRB
24 platelet-derived growth factor receptor-beta signaling pathway GO:0035791 9.62 ABL1 PDGFRB
25 metanephric glomerular capillary formation GO:0072277 9.6 PDGFRA PDGFRB
26 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.59 PDGFRA PDGFRB
27 positive regulation of phospholipase C activity GO:0010863 9.58 KIT PDGFRA PDGFRB
28 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.56 FLT3 KIT PDGFRA PDGFRB
29 myeloid progenitor cell differentiation GO:0002318 9.5 BRAF FLT3 KIT
30 positive regulation of MAP kinase activity GO:0043406 9.35 FLT3 KIT KITLG KRAS PDGFRB
31 MAPK cascade GO:0000165 9.23 BRAF FLT3 KIT KITLG KRAS MEN1
32 cell differentiation GO:0030154 10.17 ABL1 BRAF ETV1 FLT3 KIT PDGFRA
33 positive regulation of cell proliferation GO:0008284 10.08 FLT3 KIT KITLG KRAS PDGFRA PDGFRB
34 phosphorylation GO:0016310 10.07 ABL1 BRAF FLT3 KIT PDGFRA PDGFRB
35 positive regulation of gene expression GO:0010628 10.05 ACTC1 BRAF KIT KRAS VIM
36 protein phosphorylation GO:0006468 10.04 ABL1 BRAF FLT3 KIT PDGFRA PDGFRB
37 negative regulation of apoptotic process GO:0043066 10 ACTC1 BRAF FLT3 KIT KITLG PDGFRA

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 9.95 ABL1 BRAF FLT3 KIT PDGFRA PDGFRB
2 nucleotide binding GO:0000166 9.91 BRAF FLT3 KIT KRAS PDGFRA PDGFRB
3 protein kinase activity GO:0004672 9.87 ABL1 BRAF FLT3 KIT PDGFRA PDGFRB
4 transmembrane signaling receptor activity GO:0004888 9.84 FLT3 KIT PDGFRA PDGFRB
5 electron transfer activity GO:0009055 9.72 SDHA SDHB SDHC
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.67 KIT KITLG PDGFRA PDGFRB
7 platelet-derived growth factor receptor binding GO:0005161 9.57 PDGFRA PDGFRB
8 platelet-derived growth factor binding GO:0048407 9.56 PDGFRA PDGFRB
9 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.56 FLT3 KIT PDGFRA PDGFRB
10 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.55 FLT3 KIT KITLG PDGFRA PDGFRB
11 ubiquinone binding GO:0048039 9.52 SDHB SDHC
12 vascular endothelial growth factor-activated receptor activity GO:0005021 9.49 FLT3 PDGFRA
13 vascular endothelial growth factor binding GO:0038085 9.46 PDGFRA PDGFRB
14 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.13 SDHA SDHB SDHC
15 protein tyrosine kinase activity GO:0004713 9.1 ABL1 BRAF FLT3 KIT PDGFRA PDGFRB
16 protein binding GO:0005515 10.44 ABL1 BRAF DES ENO2 ETV1 FLT3
17 ATP binding GO:0005524 10.08 ABL1 ACTC1 BRAF FLT3 KIT PDGFRA

Sources for Gastrointestinal Stromal Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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