GIST
MCID: GST019
MIFTS: 78

Gastrointestinal Stromal Tumor (GIST)

Categories: Blood diseases, 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 56 12 25 58 73 29 13 54 6 15
Gist 56 12 52 25 58 73
Gastrointestinal Stromal Sarcoma 52 25 58 71
Gastrointestinal Stromal Tumors 52 43 15 71
Gastrointestinal Stromal Tumor, Familial 56 29 6
Paraganglioma and Gastric Stromal Sarcoma 71
Stromal Tumour of Gastrointestinal Tract 12
Stromal Tumor of Gastrointestinal Tract 12
Gastrointestinal Stromal Neoplasm 25
Gastrointestinal Stromal Tumour 12
Plexosarcoma 71
Gant 12

Characteristics:

Orphanet epidemiological data:

58
gastrointestinal stromal tumor
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Sweden); Age of onset: Adolescent,Adult,Childhood;

OMIM:

56
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:

31
gastrointestinal stromal tumor:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 12 DOID:9253
OMIM 56 606764
MeSH 43 D046152
NCIt 49 C3868
SNOMED-CT 67 420120006
ICD10 32 C49.A
MESH via Orphanet 44 D046152
ICD10 via Orphanet 33 C26.9
UMLS via Orphanet 72 C0238198 C3179349
Orphanet 58 ORPHA44890
MedGen 41 C0238198
UMLS 71 C0238198 C1847319 C2931518 more

Summaries for Gastrointestinal Stromal Tumor

NIH Rare Diseases : 52 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 paraganglioma and gastric stromal sarcoma 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 Developmental Biology. The drugs Oxaliplatin and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include liver, small intestine and colon, and related phenotypes are sarcoma and neoplasm of the stomach

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). Small tumors may cause no signs or symptoms. However, some people with GISTs may experience pain or swelling in the abdomen, nausea, vomiting, loss of appetite, or weight loss. Sometimes, tumors cause bleeding, which may lead to low red blood cell counts (anemia) and, consequently, weakness and tiredness. Bleeding into the intestinal tract may cause black and tarry stools, and bleeding into the throat or stomach may cause vomiting of blood. Affected individuals with no family history of GIST typically have only one tumor (called a sporadic GIST). People with a family history of GISTs (called familial GISTs) often have multiple tumors and additional signs or symptoms, including noncancerous overgrowth (hyperplasia) of other cells in the gastrointestinal tract and patches of dark skin on various areas of the body. Some affected individuals have a skin condition called urticaria pigmentosa (also known as cutaneous mastocytosis), which is characterized by raised patches of brownish skin that sting or itch when touched.

OMIM : 56 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 (15,16:Miettinen et al., 1999, 1999). GISTs are also seen as a feature in several syndromes, e.g., neurofibromatosis-1 (NF1; 162200) and GIST-plus syndrome (175510). (606764)

UniProtKB/Swiss-Prot : 73 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 : 74 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 676)
# Related Disease Score Top Affiliating Genes
1 paraganglioma and gastric stromal sarcoma 35.1 SDHC SDHB SDHA PDGFRA MEN1 KIT
2 carney triad 34.0 SDHC SDHB SDHA PDGFRA KIT
3 desmoid tumor 33.9 PDGFRB PDGFRA KIT CD34 ACTC1
4 mesenchymal cell neoplasm 33.1 PDGFRB PDGFRA KIT CD34
5 leiomyosarcoma 32.8 VIM PDGFRB PDGFRA KIT ACTC1
6 leiomyoma 32.6 VIM PDGFRA KIT CD34 ACTC1
7 neurilemmoma 32.4 VIM PDGFRB PDGFRA KIT CD34 ACTC1
8 neurofibromatosis, type i 32.3 SDHC SDHB PDGFRA MEN1 KIT
9 paraganglioma 32.2 SDHC SDHB SDHA MEN1 KIT
10 neurofibroma 32.1 VIM PDGFRA KITLG KIT CD34 ACTC1
11 smooth muscle tumor 32.0 VIM KIT CD34 ACTC1
12 chondroma 32.0 SDHC SDHB SDHA PDGFRA KIT ACTC1
13 pheochromocytoma 31.9 SDHC SDHB SDHA MEN1 KIT
14 leukemia, chronic myeloid 31.9 PDGFRB PDGFRA KRAS KITLG KIT HOTAIR
15 spindle cell sarcoma 31.9 VIM CD34 ACTC1
16 mastocytosis 31.9 PDGFRB PDGFRA KITLG KIT
17 rare tumor 31.8 KIT ACTC1
18 rhabdomyosarcoma 31.8 VIM PDGFRB PDGFRA KRAS KIT ACTC1
19 renal cell carcinoma, nonpapillary 31.7 VIM SDHC SDHB PDGFRB PDGFRA KIT
20 gastric leiomyosarcoma 31.7 SDHC SDHB SDHA PDGFRA KIT
21 lentigines 31.7 MEN1 KIT BRAF
22 malignant peripheral nerve sheath tumor 31.7 VIM PDGFRB PDGFRA KIT CD34 ACTC1
23 sarcoma 31.7 VIM PDGFRB PDGFRA KRAS KIT HOTAIR
24 glomus tumor 31.6 VIM SDHB CD34 ACTC1
25 pancreatic adenocarcinoma 31.6 PDGFRB PDGFRA KRAS KITLG KIT BRAF
26 hemangioma 31.6 MEN1 KRAS KIT CD34 ACTC1
27 inflammatory myofibroblastic tumor 31.6 VIM KIT CD34 ACTC1
28 angiosarcoma 31.6 VIM KRAS KIT CD34
29 fibrosarcoma 31.6 VIM PDGFRA KIT ACTC1
30 ewing sarcoma 31.6 VIM PDGFRB PDGFRA KITLG KIT ETV1
31 multiple endocrine neoplasia 31.6 SDHC SDHB MEN1
32 malignant fibrous histiocytoma 31.5 VIM PDGFRB KIT ACTC1
33 hypereosinophilic syndrome 31.5 PDGFRB PDGFRA KIT ABL1
34 suppression of tumorigenicity 12 31.5 KRAS KIT ETV1 BRAF
35 connective tissue benign neoplasm 31.5 PDGFRB KIT CD34
36 dermatofibrosarcoma protuberans 31.5 VIM PDGFRB PDGFRA KIT CD34 ACTC1
37 hereditary paraganglioma-pheochromocytoma syndromes 31.4 SDHC SDHB SDHA
38 jejunal neoplasm 31.4 KIT CD34
39 lipomatosis, multiple 31.4 MEN1 KIT CD34
40 leiomyomatosis 31.3 SDHB KIT ABL1
41 fibrous histiocytoma 31.3 VIM KIT CD34 ACTC1
42 hemangiopericytoma, malignant 31.3 VIM KIT CD34 ACTC1
43 endometrial stromal sarcoma 31.3 VIM PDGFRB PDGFRA KIT ACTC1
44 melanoma 31.3 PDGFRB PDGFRA KRAS KIT HOTAIR BRAF
45 mastocytosis, cutaneous 31.3 PDGFRA KITLG KIT CD34
46 polycythemia vera 31.3 PDGFRB PDGFRA KITLG KIT ABL1
47 gastric adenocarcinoma 31.3 PDGFRB KRAS KIT HOTAIR BRAF
48 leukemia 31.3 MTHFR KRAS KIT HOTAIR BRAF ABL1
49 leukemia, acute lymphoblastic 31.2 MTHFR KRAS KITLG KIT CD34 ABL1
50 angiomyolipoma 31.2 VIM KIT ACTC1

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



Diseases related to Gastrointestinal Stromal Tumor

Symptoms & Phenotypes for Gastrointestinal Stromal Tumor

Human phenotypes related to Gastrointestinal Stromal Tumor:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sarcoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0100242
2 neoplasm of the stomach 58 31 hallmark (90%) Very frequent (99-80%) HP:0006753
3 gastrointestinal stroma tumor 58 31 hallmark (90%) Very frequent (99-80%) HP:0100723
4 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
5 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
6 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
7 gastrointestinal hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002239
8 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
9 intestinal obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0005214
10 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
11 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
12 irregular hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007400
13 neoplasm of the colon 58 31 occasional (7.5%) Occasional (29-5%) HP:0100273
14 neoplasm of the rectum 58 31 occasional (7.5%) Occasional (29-5%) HP:0100743
15 esophageal neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100751
16 neoplasm of the small intestine 58 31 occasional (7.5%) Occasional (29-5%) HP:0100833
17 abnormality of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0001392
18 urticaria 31 HP:0001025
19 neoplasm of the gastrointestinal tract 58 Occasional (29-5%)
20 large hands 31 HP:0001176
21 neurofibromas 31 HP:0001067
22 hyperpigmentation of the skin 31 HP:0000953

Symptoms via clinical synopsis from OMIM:

56
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

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

26 (show top 50) (show all 77)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.39 KITLG
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10.39 MTRR
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.39 ETV1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.39 KRAS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 10.39 KRAS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 10.39 ETV1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.39 KRAS
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.39 KRAS MTRR
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.39 KRAS MTRR
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 10.39 ETV1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.39 KRAS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 10.39 KRAS
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-196 10.39 KRAS
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.39 KRAS
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 10.39 KRAS
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.39 KRAS
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.39 KRAS
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-41 10.39 KITLG
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 10.39 KRAS
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.39 KRAS
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.39 KRAS
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-56 10.39 MTRR
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.39 KRAS
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-92 10.39 MTRR
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 10.39 KRAS
26 Decreased viability GR00055-A-1 10.16 KRAS
27 Decreased viability GR00055-A-2 10.16 KRAS
28 Decreased viability GR00055-A-3 10.16 KRAS
29 Decreased viability GR00106-A-0 10.16 KRAS
30 Decreased viability GR00107-A-1 10.16 PRKCQ
31 Decreased viability GR00173-A 10.16 PDGFRA PRKCQ
32 Decreased viability GR00221-A-1 10.16 ABL1 KIT KRAS PDGFRA PDGFRB PRKCQ
33 Decreased viability GR00221-A-2 10.16 ABL1 KRAS PRKCQ
34 Decreased viability GR00221-A-3 10.16 ABL1 PDGFRA PDGFRB PRKCQ
35 Decreased viability GR00221-A-4 10.16 PDGFRA PDGFRB PRKCQ
36 Decreased viability GR00249-S 10.16 PDGFRA
37 Decreased viability GR00301-A 10.16 KIT KRAS
38 Decreased viability GR00342-S-1 10.16 ABL1 PDGFRB
39 Decreased viability GR00342-S-2 10.16 ABL1
40 Decreased viability GR00342-S-3 10.16 ABL1
41 Decreased viability GR00381-A-1 10.16 KRAS
42 Decreased viability GR00402-S-2 10.16 PDGFRA
43 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.95 VIM
44 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.95 ETV1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.95 MEN1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.95 KRAS
47 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.95 MEN1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.95 MTRR
49 Increased shRNA abundance (Z-score > 2) GR00366-A-141 9.95 ETV1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.95 MTRR

MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.44 ABL1 ACTC1 BRAF CD34 KIT KITLG
2 cellular MP:0005384 10.43 ABL1 ACTC1 BRAF CD34 ETV1 KIT
3 growth/size/body region MP:0005378 10.41 ABL1 ACTC1 BRAF ETV1 KIT KITLG
4 mortality/aging MP:0010768 10.36 ABL1 ACTC1 BRAF ETV1 KIT KITLG
5 cardiovascular system MP:0005385 10.33 ABL1 ACTC1 BRAF KIT KITLG KRAS
6 hematopoietic system MP:0005397 10.3 ABL1 BRAF CD34 KIT KITLG KRAS
7 endocrine/exocrine gland MP:0005379 10.25 ABL1 BRAF KIT KITLG KRAS MEN1
8 immune system MP:0005387 10.24 ABL1 BRAF CD34 KIT KITLG KRAS
9 craniofacial MP:0005382 10.23 ABL1 BRAF KIT KITLG KRAS MEN1
10 digestive/alimentary MP:0005381 10.22 ABL1 BRAF KIT KITLG KRAS MEN1
11 embryo MP:0005380 10.21 ABL1 BRAF KIT KITLG KRAS MEN1
12 muscle MP:0005369 10.21 ABL1 ACTC1 BRAF ETV1 KIT KRAS
13 nervous system MP:0003631 10.18 ABL1 ACTC1 BRAF ETV1 KIT KITLG
14 neoplasm MP:0002006 10.1 BRAF CD34 KIT KITLG KRAS MEN1
15 limbs/digits/tail MP:0005371 10.02 BRAF KIT KITLG KRAS MTHFR PDGFRA
16 normal MP:0002873 9.97 ABL1 ACTC1 BRAF ETV1 KIT KRAS
17 reproductive system MP:0005389 9.85 BRAF KIT KITLG KRAS MEN1 MTHFR
18 pigmentation MP:0001186 9.73 BRAF KIT KITLG KRAS PDGFRA PRKCQ
19 skeleton MP:0005390 9.65 ABL1 BRAF KIT KITLG KRAS MTHFR
20 vision/eye MP:0005391 9.32 ABL1 BRAF KIT KITLG KRAS MTHFR

Drugs & Therapeutics for Gastrointestinal Stromal Tumor

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

(show top 50) (show all 213)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxaliplatin Approved, Investigational Phase 4 61825-94-3 43805 6857599 5310940 9887054
2
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
3
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
4
Caffeine Approved Phase 4 58-08-2 2519
5
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
6 Antacids Phase 4
7 Proton Pump Inhibitors Phase 4
8 Anti-Ulcer Agents Phase 4
9 Gastrointestinal Agents Phase 4
10
Erlotinib Hydrochloride Phase 4 183319-69-9 176871
11 Central Nervous System Stimulants Phase 4
12 Phosphodiesterase Inhibitors Phase 4
13 Imatinib Mesylate Phase 4 220127-57-1 123596
14 Orange Approved Phase 2, Phase 3
15
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
16
Dasatinib Approved, Investigational Phase 3 302962-49-8 3062316
17
Bevacizumab Approved, Investigational Phase 3 216974-75-3
18
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
19 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
20
Crenolanib Investigational Phase 3 670220-88-9 10366136
21 Analgesics Phase 3
22 Liver Extracts Phase 3
23 Anesthetics Phase 3
24 Anesthetics, General Phase 3
25 Anesthetics, Intravenous Phase 3
26 Calcium, Dietary Phase 3
27 Narcotics Phase 3
28 Analgesics, Opioid Phase 3
29 carnitine Phase 3
30 Immunologic Factors Phase 3
31 Immunoglobulins Phase 3
32 Antibodies Phase 3
33 Antibodies, Monoclonal Phase 3
34 Endothelial Growth Factors Phase 3
35 Immunoglobulins, Intravenous Phase 3
36 Immunoglobulin G Phase 3
37
Calcium Nutraceutical Phase 3 7440-70-2 271
38
Etidronic acid Approved Phase 1, Phase 2 2809-21-4, 7414-83-7 3305
39
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
40
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
41
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
42
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
43
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
44 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
45
Xylometazoline Approved, Investigational Phase 2 526-36-3 5709
46
Palbociclib Approved, Investigational Phase 2 571190-30-2 5005498 11431660 5330286
47
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
48
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
49
Floxuridine Approved Phase 2 50-91-9 5790
50
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142

Interventional clinical trials:

(show top 50) (show all 394)
# 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 Study of the Relationship Between the Rate of Residual Platinum in the Blood and the Incidence of Persistent Neurotoxicity in Patients Treated for Gastrointestinal Cancer With Oxaliplatin Unknown status NCT00274885 Phase 4 oxaliplatin
3 Multicenter, Single-arm, Two Stage Phase II Trial of RAD001 (Everolimus) With Imatinib in Imatinib-resistant Patients With Progressive GIST Completed NCT00510354 Phase 4 Imatinib mesylate
4 The Effects of the Proton Pump Inhibitor Esomeprazole on the Bioavailability of Regorafenib in Patients With Metastatic Colorectal Cancer (mCRC) or Gastrointestinal Stromal Tumour (GIST) Completed NCT02800330 Phase 4 Esomeprazole 40mg concomitantly;Esomeprazole 40mg before;Regorafenib 160mg or 120mg
5 A Single-arm, Open-label, Multi-center, Phase Iv, Efficacy And Safety Study Of Sunitinib Malate In The Treatment Of Chinese Patients With Gastrointestinal Stromal Tumor After Disease Progression On Or Intolerance To Imatinib Mesylate Completed NCT00793871 Phase 4 Sunitinib Malate (SU011248)
6 Post-Marketing Clinical Study of Postoperative Adjuvant Therapy With Imatinib Mesylate in Patients With Gastrointestinal Stromal Tumors (GIST) Completed NCT00171977 Phase 4 Imatinib Mesylate
7 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
8 An Open Label, Multi-center Nilotinib Roll-over Protocol for Patients Who Have Completed a Previous Novartis-sponsored Nilotinib Study and Are Judged by the Investigator to Benefit From Continued Nilotinib Treatment Recruiting NCT01735955 Phase 4 AMN107
9 An Open-label, Multi-center, Single-arm Study to Evaluate the Efficacy of Nilotinib in Adult Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumors in First Line Treatment Active, not recruiting NCT00756509 Phase 4 Nilotinib
10 An Open Label, Multi-center Imatinib Roll-over Protocol for Patients Who Have Completed a Previous Novartis-sponsored Imatinib Study and Are Judged by the Investigator to Benefit From Continued Imatinib Treatment Active, not recruiting NCT01742299 Phase 4 imatinib mesylate
11 Are the Secondary Chromosome Abnormalities Seen in Chronic Myeloid Leukemia (CML) Cells Induced to Ph-Chromosome Negativity by Imatinib a Result of Chromosome Instability or a Side Effect of the Therapy - a Study in GIST (Gastrointestinal Stromal Cell Tumors) Patients Treated With Imatinib. Terminated NCT00461929 Phase 4
12 Phase III Randomized, Intergroup, International Trial Assessing the Clinical Activity of STI-571 at Two Dose Levels in Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumors (GIST) Expressing the KIT Receptor Tyrosine Kinase (CD117) Unknown status NCT00685828 Phase 3 imatinib mesylate
13 Endoscopic Ultrasonography Guided Fine Needle Biopsy (EUS-FNB) vs. Single-incision Needle-knife (SINK) Biopsy for Diagnosis of Upper Gastrointestinal Subepithelial Lesions Unknown status NCT02866045 Phase 3
14 A Randomized, Open Label, Multi-center Phase III Study to Evaluate the Efficacy and Safety of Nilotinib Versus Imatinib in Adult Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumors (GIST) Completed NCT00785785 Phase 3 Nilotinib (AMN107);imatinib (STI571)
15 A Randomized, Open-label, Multi-center Study to Evaluate the Efficacy of Nilotinib Versus Best Supportive Care With or Without a Tyrosine Kinase Inhibitor (Investigator's Choice) in Adult Patients With Gastrointestinal Stromal Tumors Resistant to Both Imatinib and Sunitinib Completed NCT00471328 Phase 3 Nilotinib
16 A Phase III, Randomized, Double-Blind, Placebo-Controlled Study Of SU011248 In The Treatment Of Patients With Imatinib Mesylate (Gleevec Tm, Glivec)-Resistant Or Intolerant Malignant Gastrointestinal Stromal Tumor Completed NCT00075218 Phase 3 Placebo;SU011248
17 An Open-label, Multi-center Study to Evaluate the Efficacy of Nilotinib in Adult Patients With Gastrointestinal Stromal Tumors Resistant to Imatinib and Sunitinib. Completed NCT01289028 Phase 3 Nilotinib
18 Intermediate and High Risk Localized, Completely Resected, Gastrointestinal Stromal Tumors (GIST) Expressing KIT Receptor: A Controlled Randomized Trial on Adjuvant Imatinib Mesylate (Glivec) Versus No Further Therapy After Complete Surgery Completed NCT00103168 Phase 3 imatinib mesylate
19 A Phase III Randomized Double-Blind Study of Adjuvant STI571 (Gleevec™) Versus Placebo in Patients Following the Resection of Primary Gastrointestinal Stromal Tumor (GIST) Completed NCT00041197 Phase 3 imatinib mesylate
20 A Randomized, Open Label, Two-Treatment, Multiple Dose, Steady State, Two-period, Cross-over, Multi-Centre Comparative Bioequivalence Study of Imatinib Mesylate Tablet 400 mg of Amneal Pharmaceuticals, USA With GLEEVEC® (Imatinib Mesylate) Tablets 400 mg Distributed by Novartis Pharmaceuticals Corporation, East Hanover, New Jersey 07936 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
21 Short (12 Months) Versus Long (36 Months) Duration of Adjuvant Treatment With the Tyrosine Kinase Inhibitor Imatinib Mesylate of Operable GIST With a High Risk of Recurrence Completed NCT00116935 Phase 3 imatinib mesylate;imatinib;imatinib
22 A Prospective, Double Blind, Randomized, Placebo-Controlled Phase III Trial of Imatinib Re-Challenge in Patients With Gastrointestinal Stromal Tumor Who Had Benefit From Prior Imatinib But Progression From Both Imatinib and Sunitinib Completed NCT01151852 Phase 3 Imatinib;Placebo
23 An Open-label Trial of Glivec in Patients With Unresectable or Metastatic Malignant Gastrointestinal Stromal Tumors Expressing C-kit. Completed NCT00293124 Phase 3 Glivec
24 Prospective, Explorative Trial for the Detection of Circulating Cell-free Tumor DNA in the Plasma of Patients With Gastrointestinal Stromal Tumors (GIST)Harboring Activating Mutations of CKIT or PDGFRA Pre/Post Surgery or Pre/Under Treatment With a Tyrosine Kinase Inhibitor or Progressive Disease Irrespective of Current or Planned Treatment. An Open-label, Non-randomized, Multicenter Phase IIIb Clinical Trial Completed NCT01462994 Phase 3
25 A Randomized, Double-blind, Placebo-controlled Phase III Study of Regorafenib Plus Best Supportive Care Versus Placebo Plus Best Supportive Care for Subjects With Metastatic and/or Unresectable Gastrointestinal Stromal Tumors (GIST) Whose Disease Has Progressed Despite Prior Treatment With at Least Imatinib and Sunitinib Completed NCT01271712 Phase 3 Regorafenib (Stivarga, BAY73-4506);Placebo;Best supportive care
26 A Prospective Multicentric Randomized Study of Glivec® in Patients With Advanced Gastrointestinal Stromal Tumors Expressing C-kit Comparing Treatment Interruption After 5 Years vs Treatment Maintenance Completed NCT00367861 Phase 3 interruption of Glivec®
27 Phase III Randomized Double-blind Cross-over Trial of Caphosol® Versus NaCl 0.9% in the Relief of Oral Mucositis in Renal Cell Carcinoma, Hepatocellular Carcinoma, and Gastrointestinal Stromal Tumor Patients Receiving Targeted Therapy Completed NCT01265810 Phase 3
28 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
29 Phase III Study of L-carnitine vs Placebo for the Treatment of Muscle Cramps After Imatinib in Patients With Gastrointestinal Stromal Tumors (GISTs) (Single-center Study) Recruiting NCT03426722 Phase 3 L-carnitine;Placebo
30 A Phase 3, Interventional, Randomized, Multicenter, Open-Label Study of DCC-2618 vs Sunitinib in Patients With Advanced Gastrointestinal Stromal Tumors After Treatment With Imatinib Recruiting NCT03673501 Phase 3 DCC-2618;Sunitinib
31 A Randomized, Double-Blind, Placebo-Controlled, Multicenter Trial of Crenolanib in Subjects With Advanced or Metastatic Gastrointestinal Stromal Tumors With a D842V Mutation in the PDGFRA Gene Recruiting NCT02847429 Phase 3 Crenolanib;Placebo
32 A Randomized Multicenter Phase III Trial Evaluating the Interest 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 Three Versus Five Years of Adjuvant Imatinib as Treatment of Patients With Operable GIST With a High Risk for Recurrence: A Randomised Phase III Study Recruiting NCT02413736 Phase 3 Imatinib
34 A Prospective, Multicenter, Randomized, Open-label, Active-controlled, Two-parallel Groups, Phase 3 Study to Compare the Efficacy and Safety of Masitinib to Sunitinib in Patients With Gastrointestinal Stromal Tumor After Progression With Imatinib at 400mg as First Line Treatment Active, not recruiting NCT01694277 Phase 3 Masitinib;Sunitinib
35 An International, Multicenter, Open-label, Randomized, Phase 3 Study of BLU-285 vs Regorafenib in Patients With Locally Advanced Unresectable or Metastatic Gastrointestinal Stromal Tumor (GIST) Active, not recruiting NCT03465722 Phase 3 avapritinib;regorafenib
36 A Phase 3, INterVentional, Double-Blind, Placebo-Controlled Study to Assess the Safety and Efficacy of DCC-2618 In Patients With AdvanCed Gastrointestinal Stromal TUmorS Who Have Received Treatment With Prior Anticancer Therapies Active, not recruiting NCT03353753 Phase 3 DCC-2618;Placebo Oral Tablet
37 A Phase III, Open Label, Randomised,Controlled, Multi-centre Study to Assess the Efficacy and Safety of Famitinib Versus Sunitinib in the Treatment of Advanced Gastrointestinal Stromal Tumour Patients After Failure of Imatinib Not yet recruiting NCT04409223 Phase 3 Famitinib capsules;Sunitinib Capsules
38 Efficacy of Adjuvant Imatinib in Patients With Intermediate-risk Gastrointestinal Stromal Tumor With a High-risk Genomic Grade Index. Multicenter, Prospective, Randomized Study. Etude Multicentrique, Prospective, randomisée Not yet recruiting NCT02576080 Phase 3 Imatinib
39 A Phase IIIB, Randomized, Active Controlled Open-Label Study Of Sunitinib (Sutent) 37.5 Mg Daily Vs Imatinib Mesylate 800 Mg Daily In The Treatment Of Patients With Gastrointestinal Stromal Tumors (GIST) Who Have Had Progressive Disease While On 400 Mg Daily Of Imatinib Terminated NCT00372567 Phase 3 sunitinib malate;imatinib mesylate
40 Phase III Randomized, Intergroup Trial Assessing the Clinical Activity Of STI-571 at Two Dose Levels in Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumors (GIST) Expressing the Kit Receptor Tyrosine Kinase (CD117) Terminated NCT00009906 Phase 3 Imatinib Mesylate
41 A Prospective, Multicenter, Randomised, Double-blinded, Placebo-controlled, Two-parallel Groups, Phase III Study to Compare the Efficacy and Safety of Masitinib to Placebo in Patients With Localized, Primary Gastrointestinal Stromal Tumor (GIST) After Complete Surgery and With High Risk of Recurrence Terminated NCT02009423 Phase 3 Masitinib;Placebo
42 A Phase III Randomized Study of Imatinib, With or Without Bevacizumab (NSC-704865), in Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumors Terminated NCT00324987 Phase 3 Imatinib Mesylate
43 A Phase III Randomized Study Evaluating Surgery of Residual Disease in Patients With Metastatic Gastro-intestinal Stromal Tumor Responding to Imatinib Mesylate. Terminated NCT00956072 Phase 3 imatinib mesylate
44 A Randomized, Phase 3 Study of Dose Escalation Versus No Dose Escalation of Imatinib In Metastatic GIST Patients With Imatinib Trough Levels Less Than 1100 Nanograms/mL Terminated NCT01031628 Phase 3 Imatinib mesylate;Imatinib mesylate;Imatinib mesylate
45 Randomized Phase III Trial Comparing Nilotinib 800mg to Imatinib 800 mg for the Treatment of Patients With Advanced and/or Metastatic Gastrointestinal Stromal Tumors Refractory to Imatinib 400 mg Terminated NCT00751036 Phase 3 Nilotinib;Imatinib
46 A Prospective, Multicenter, Randomized, Open-label, Active-controlled, 2-parallel Group, Phase III Study to Compare Efficacy and Safety of Masitinib at 7.5 mg/kg/Day to Imatinib at 400 or 600 mg in Treatment of Patients With Gastro-intestinal Stromal Tumor in First Line Medical Treatment Terminated NCT00812240 Phase 3 Masitinib;Imatinib
47 A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Evaluating the Efficacy and Safety of IPI-504 in Patients With Metastatic and/or Unresectable GIST Following Failure of at Least Imatinib and Sunitinib Terminated NCT00688766 Phase 3 retaspimycin hydrochloride (IPI-504);placebo
48 A Phase II Study on Preoperative Administration of Gleevec in Patients With Initially Non-Resectable Gastrointestinal Stromal Tumor Unknown status NCT00290485 Phase 2 Imatinib mesylate
49 A Single Arm, Open Label, Multicenter, Phase II Study of Famitinib in Patients With Gastrointestinal Stromal Tumor Unknown status NCT02336724 Phase 2 Famitinib
50 A Phase II Study of AUY922, a Novel HSP Inhibitor, in Patients With Advanced GIST Failed to or Intolerance of Imatinib and Sunitinib Therapy Unknown status NCT01389583 Phase 2 AUY922

Search NIH Clinical Center for Gastrointestinal Stromal Tumor

Inferred drug relations via UMLS 71 / NDF-RT 50 :


regorafenib
sunitinib
sunitinib malate

Cochrane evidence based reviews: gastrointestinal stromal tumors

Genetic Tests for Gastrointestinal Stromal Tumor

Genetic tests related to Gastrointestinal Stromal Tumor:

# Genetic test Affiliating Genes
1 Gastrointestinal Stromal Tumor 29 KIT SDHB SDHC
2 Gastrointestinal Stromal Tumor, Familial 29

Anatomical Context for Gastrointestinal Stromal Tumor

MalaCards organs/tissues related to Gastrointestinal Stromal Tumor:

40
Liver, Small Intestine, Colon, Pancreas, Skin, Bone, Breast

Publications for Gastrointestinal Stromal Tumor

Articles related to Gastrointestinal Stromal Tumor:

(show top 50) (show all 8352)
# Title Authors PMID Year
1
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. 61 56 6
21173220 2011
2
Gastrointestinal stromal tumors in a mouse model by targeted mutation of the Kit receptor tyrosine kinase. 61 56 6
12754375 2003
3
PDGFRA activating mutations in gastrointestinal stromal tumors. 56 6 54
12522257 2003
4
Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. 61 56 6
11505412 2001
5
Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors. 6 56 54
11073817 2000
6
Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. 6 56
9697690 1998
7
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 6 56
9438854 1998
8
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. 54 61 6
17667967 2008
9
Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: a case associated with a germline V561D defect. 6 54 61
17566086 2007
10
A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors. 6 61 54
15824741 2005
11
Altered chromosomal topology drives oncogenic programs in SDH-deficient GISTs. 61 56
31666694 2019
12
Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update. 61 6
23852704 2014
13
The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation. 6 61
22685257 2012
14
Imatinib potentiates antitumor T cell responses in gastrointestinal stromal tumor through the inhibition of Ido. 56 61
21873989 2011
15
Alternatively spliced NKp30 isoforms affect the prognosis of gastrointestinal stromal tumors. 56 61
21552268 2011
16
ETV1 is a lineage survival factor that cooperates with KIT in gastrointestinal stromal tumours. 61 56
20927104 2010
17
Ménétrier disease and gastrointestinal stromal tumors: hyperproliferative disorders of the stomach. 56 61
17200708 2007
18
Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. 61 6
17087943 2006
19
PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. 61 56
14699510 2004
20
Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stromal tumor. 61 56
11287975 2001
21
Gastrointestinal stromal tumors: recent advances in understanding of their biology. 61 56
10534170 1999
22
Gastrointestinal stromal tumors/smooth muscle tumors (GISTs) primary in the omentum and mesentery: clinicopathologic and immunohistochemical study of 26 cases. 61 56
10478672 1999
23
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
24
Familial gastrointestinal stromal tumors and germ-line mutations. 6
17804857 2007
25
Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. 6
12213855 2002
26
Germ-line mutations in nonsyndromic pheochromocytoma. 6
12000816 2002
27
Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors. gastrointestinal stromal tumors. 56
12072198 2002
28
Imatinib mesylate--a new oral targeted therapy. 56
11870247 2002
29
Leiomyosarcoma in leiomyomatosis of the small intestine. 56
7971636 1994
30
Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder. Report of a family study. 56
2323526 1990
31
Gastrointestinal stromal tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. 52
25210085 2014
32
Chromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumors. 61 54
20470368 2010
33
Primary gastrointestinal stromal tumor of the liver with PDGFRA gene mutation. 61 54
20096441 2010
34
[Gastrointestinal stromal tumors: evolution of a tumor concept from unclassifiable neoplasms to targeted molecular therapy]. 61 54
19949796 2010
35
Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways. 61 54
19847891 2010
36
Antiangiogenic drugs in oncology: a focus on drug safety and the elderly - a mini-review. 61 54
19940466 2010
37
Detection of c-KIT and PDGFRA gene mutations in gastrointestinal stromal tumors: comparison of DHPLC and DNA sequencing methods using a single population-based cohort. 54 61
20023271 2010
38
BRAF mutation status in gastrointestinal stromal tumors. 54 61
20023270 2010
39
Involvement of focal adhesion kinase in the progression and prognosis of gastrointestinal stromal tumors. 61 54
19695682 2009
40
Disappearance of lentigines in a patient receiving imatinib treatment for familial gastrointestinal stromal tumor syndrome. 61 54
19917964 2009
41
High density DNA array analysis reveals distinct genomic profiles in a subset of gastrointestinal stromal tumors. 61 54
19585585 2009
42
Ezrin overexpression in gastrointestinal stromal tumors: an independent adverse prognosticator associated with the non-gastric location. 61 54
19648886 2009
43
DOG1 antibody in the differential diagnosis of gastrointestinal stromal tumors: a study of 1840 cases. 61 54
19606013 2009
44
Impact of KIT and PDGFRA gene mutations on prognosis of patients with gastrointestinal stromal tumors after complete primary tumor resection. 61 54
19291337 2009
45
Inhibitors of deacetylases suppress oncogenic KIT signaling, acetylate HSP90, and induce apoptosis in gastrointestinal stromal tumors. 61 54
19706776 2009
46
Does imatinib turn recurrent and/or metastasized gastrointestinal stromal tumors into a chronic disease? - single center experience. 54 61
19369884 2009
47
Gastric leiomyosarcoma manifesting peculiar findings: radiological-pathological correlation. 61 54
19432672 2009
48
Gastrointestinal stromal tumors with pseudocystic change mimicking a pancreatic tumor: two case reports. 54 61
19830214 2009
49
T670X KIT mutations in gastrointestinal stromal tumors: making sense of missense. 61 54
19176456 2009
50
Gastrointestinal stromal tumor: a bridge between bench and bedside. 61 54
20047122 2009

Variations for Gastrointestinal Stromal Tumor

ClinVar genetic disease variations for Gastrointestinal Stromal Tumor:

6 (show top 50) (show all 2464) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SDHB NC_000001.11:g.(?_17044761)_(17044888_?)deldeletion Pathogenic 417581 1:17371256-17371383 1:17044761-17044888
2 SDHC NM_003001.5(SDHC):c.1A>G (p.Met1Val)SNV Pathogenic 407060 rs755235380 1:161284196-161284196 1:161314406-161314406
3 SDHB NM_003000.2(SDHB):c.717dup (p.Leu240fs)duplication Pathogenic 412481 rs1060503764 1:17349150-17349151 1:17022655-17022656
4 SDHB NM_003000.2(SDHB):c.591del (p.Ser198fs)deletion Pathogenic 412462 rs1060503757 1:17350519-17350519 1:17024024-17024024
5 SDHB NM_003000.2(SDHB):c.620_621del (p.Leu207fs)deletion Pathogenic 412454 rs1060503752 1:17350489-17350490 1:17023994-17023995
6 SDHB NM_003000.2(SDHB):c.499A>T (p.Lys167Ter)SNV Pathogenic 412456 rs1060503753 1:17354285-17354285 1:17027790-17027790
7 SDHB NM_003000.2(SDHB):c.602G>A (p.Trp201Ter)SNV Pathogenic 412470 rs1060503759 1:17350508-17350508 1:17024013-17024013
8 SDHB NM_003000.2(SDHB):c.329_330CT[1] (p.Leu111fs)short repeat Pathogenic 412453 rs1060503751 1:17355186-17355187 1:17028691-17028692
9 SDHB NM_003000.2(SDHB):c.374C>G (p.Ser125Ter)SNV Pathogenic 412455 rs786203506 1:17355144-17355144 1:17028649-17028649
10 SDHB NM_003000.2(SDHB):c.441T>G (p.Tyr147Ter)SNV Pathogenic 412476 rs1060503763 1:17354343-17354343 1:17027848-17027848
11 SDHB NM_003000.2(SDHB):c.141G>A (p.Trp47Ter)SNV Pathogenic 412474 rs1060503762 1:17371315-17371315 1:17044820-17044820
12 KIT NM_000222.2(KIT):c.2454del (p.Asn819fs)deletion Pathogenic 409664 rs1060502521 4:55599328-55599328 4:54733162-54733162
13 KIT NM_000222.2(KIT):c.1735_1737del (p.Asp579del)deletion Pathogenic 409725 rs1060502543 4:55593667-55593669 4:54727501-54727503
14 SDHB NM_003000.2(SDHB):c.605dup (p.Asn202fs)duplication Pathogenic 428922 rs1131691053 1:17350504-17350505 1:17024009-17024010
15 SDHB NC_000001.10:g.(?_17380437)_(17380520_?)deldeletion Pathogenic 468232 1:17380437-17380520
16 SDHB NM_003000.2(SDHB):c.683_684delAGshort repeat Pathogenic 438428 rs762812025 1:17349184-17349185 1:17022689-17022690
17 SDHB NM_003000.2(SDHB):c.697A>T (p.Lys233Ter)SNV Pathogenic 468235 rs1553177285 1:17349171-17349171 1:17022676-17022676
18 SDHB NM_003000.2(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs)insertion Pathogenic 468238 rs1209914140 1:17349182-17349183 1:17022687-17022688
19 KIT NM_000222.2(KIT):c.108_109insT (p.Pro37fs)insertion Pathogenic 458850 rs1553887262 4:55561718-55561719 4:54695552-54695553
20 KIT NM_000222.2(KIT):c.1670G>A (p.Trp557Ter)SNV Pathogenic 458885 rs1057520032 4:55593604-55593604 4:54727438-54727438
21 KIT NM_000222.2(KIT):c.753_756del (p.Ser251fs)deletion Pathogenic 458966 rs1553887960 4:55565926-55565929 4:54699760-54699763
22 SDHC NC_000001.11:g.(?_161314400)_(161362439_?)deldeletion Pathogenic 534384 1:161284190-161332229 1:161314400-161362439
23 SDHB NC_000001.11:g.(?_17033054)_(17033151_?)deldeletion Pathogenic 528762 1:17359549-17359646 1:17033054-17033151
24 SDHC NM_003001.5(SDHC):c.215del (p.Arg72fs)deletion Pathogenic 534368 rs1553264218 1:161310419-161310419 1:161340629-161340629
25 SDHB NM_003000.2(SDHB):c.608del (p.Gly203fs)deletion Pathogenic 528737 rs1553177436 1:17350502-17350502 1:17024007-17024007
26 SDHB NM_003000.2(SDHB):c.505C>T (p.Gln169Ter)SNV Pathogenic 528736 rs1553177676 1:17354279-17354279 1:17027784-17027784
27 SDHB NM_003000.2(SDHB):c.491del (p.Gln164fs)deletion Pathogenic 528750 rs1553177678 1:17354293-17354293 1:17027798-17027798
28 SDHB NM_003000.2(SDHB):c.112del (p.Arg38fs)deletion Pathogenic 528741 rs398123690 1:17371344-17371344 1:17044849-17044849
29 SDHB NC_000001.11:g.(?_17053938)_(17054029_?)deldeletion Pathogenic 583582 1:17380433-17380524 1:17053938-17054029
30 SDHB NC_000001.11:g.(?_17018875)_(17033151_?)deldeletion Pathogenic 583909 1:17345370-17359646 1:17018875-17033151
31 SDHB NC_000001.11:g.(?_17018881)_(17071491_?)deldeletion Pathogenic 584021 1:17345376-17397986 1:17018881-17071491
32 SDHB NC_000001.11:g.(?_17033050)_(17033155_?)deldeletion Pathogenic 583569 1:17359545-17359650 1:17033050-17033155
33 SDHB NM_003000.2(SDHB):c.399dup (p.Tyr134fs)duplication Pathogenic 579501 rs1557741425 1:17355118-17355119 1:17028623-17028624
34 KIT NM_000222.2(KIT):c.389del (p.Asn130fs)deletion Pathogenic 569047 rs1560395607 4:55564500-55564500 4:54698334-54698334
35 KIT NC_000004.11:g.(?_55524176)_(55604729_?)deldeletion Pathogenic 583798 4:55524176-55604729
36 KIT NM_000222.2(KIT):c.2152_2153del (p.Ser717_Thr718insTer)deletion Pathogenic 580901 rs1560420761 4:55597504-55597505 4:54731338-54731339
37 SDHC NM_003001.5(SDHC):c.1A>T (p.Met1Leu)SNV Pathogenic 653751 1:161284196-161284196 1:161314406-161314406
38 SDHB NM_003000.2(SDHB):c.70C>T (p.Gln24Ter)SNV Pathogenic 664893 1:17380445-17380445 1:17053950-17053950
39 SDHB NM_003000.3(SDHB):c.63dup (p.Cys22fs)duplication Pathogenic 658395 1:17380451-17380452 1:17053956-17053957
40 KIT NM_000222.2(KIT):c.1526A>T (p.Lys509Ile)SNV Pathogenic 651292 4:55592202-55592202 4:54726036-54726036
41 SDHB NM_003000.2(SDHB):c.653G>A (p.Trp218Ter)SNV Pathogenic 664580 1:17349215-17349215 1:17022720-17022720
42 SDHB NM_003000.2(SDHB):c.609_622dup (p.Gly208fs)duplication Pathogenic 642173 1:17350487-17350488 1:17023992-17023993
43 SDHC NC_000001.11:g.(?_161356667)_(161362443_?)deldeletion Pathogenic 650709 1:161326457-161332233 1:161356667-161362443
44 SDHC NC_000001.11:g.(?_161356667)_(161356850_?)deldeletion Pathogenic 644840 1:161326457-161326640 1:161356667-161356850
45 SDHB NC_000001.11:g.(?_17018871)_(17018968_?)deldeletion Pathogenic 649062 1:17345366-17345463 1:17018871-17018968
46 SDHB NC_000001.11:g.(?_17044751)_(17044898_?)deldeletion Pathogenic 649629 1:17371246-17371393 1:17044751-17044898
47 SDHB NM_003000.2(SDHB):c.656_707dup (p.Pro237_Phe238insAspTer)duplication Pathogenic 662440 1:17349160-17349161 1:17022665-17022666
48 SDHB NM_003000.2(SDHB):c.148_151dup (p.Lys51fs)duplication Pathogenic 642012 1:17371304-17371305 1:17044809-17044810
49 SDHB NM_003000.2(SDHB):c.143_144dup (p.Pro49fs)duplication Pathogenic 656223 1:17371311-17371312 1:17044816-17044817
50 SDHB NM_003000.3(SDHB):c.677del (p.Phe226fs)deletion Pathogenic 840440 1:17349191-17349191 1:17022696-17022696

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

73
# 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

Cosmic variations for Gastrointestinal Stromal Tumor:

9 (show top 50) (show all 2073)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM149325379 ZFHX3 soft tissue,smooth muscle,leiomyosarcoma,NS c.2513A>G p.N838S 16:72957633-72957633 3
2 COSM101976974 XPO1 soft tissue,smooth muscle,leiomyosarcoma,NS c.782G>A p.R261Q 2:61496985-61496985 3
3 COSM85719005 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1079C>A p.T360N 9:132911064-132911064 3
4 COSM87912584 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.376-1G>A p.? 17:7675237-7675237 3
5 COSM87921270 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.673-1G>T p.? 17:7674291-7674291 3
6 COSM87898818 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.916C>T p.R306* 17:7673704-7673704 3
7 COSM87901856 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.746G>T p.R249M 17:7674217-7674217 3
8 COSM87916345 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.517G>C p.V173L 17:7675095-7675095 3
9 COSM87899887 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.856G>A p.E286K 17:7673764-7673764 3
10 COSM87910722 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.764T>G p.I255S 17:7674199-7674199 3
11 COSM87922049 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.713G>T p.C238F 17:7674250-7674250 3
12 COSM87922564 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.452C>A p.P151H 17:7675160-7675160 3
13 COSM87899463 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.581T>C p.L194P 17:7674950-7674950 3
14 COSM87897883 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.659A>G p.Y220C 17:7674872-7674872 3
15 COSM87913887 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.376-2A>T p.? 17:7675238-7675238 3
16 COSM87907695 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.518T>C p.V173A 17:7675094-7675094 3
17 COSM87898351 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.743G>A p.R248Q 17:7674220-7674220 3
18 COSM88016839 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.955A>T p.K319* 17:7673573-7673573 3
19 COSM87999235 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.647T>C p.V216A 17:7674884-7674884 3
20 COSM87900303 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.638G>A p.R213Q 17:7674893-7674893 3
21 COSM87898836 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.560-1G>A p.? 17:7674972-7674972 3
22 COSM87952881 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.994-1G>C p.? 17:7670716-7670716 3
23 COSM87922945 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.394A>C p.K132Q 17:7675218-7675218 3
24 COSM87898709 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.742C>T p.R248W 17:7674221-7674221 3
25 COSM87906877 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.493C>T p.Q165* 17:7675119-7675119 3
26 COSM87918646 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.712T>A p.C238S 17:7674251-7674251 3
27 COSM87906483 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.785G>T p.G262V 17:7673835-7673835 3
28 COSM87917769 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.808T>G p.F270V 17:7673812-7673812 3
29 COSM88000514 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.976G>A p.E326K 17:7673552-7673552 3
30 COSM87900273 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.427G>A p.V143M 17:7675185-7675185 3
31 COSM87940273 TP53 soft tissue,smooth muscle,leiomyoma,NS c.734G>C p.G245A 17:7674229-7674229 3
32 COSM87908034 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.473G>A p.R158H 17:7675139-7675139 3
33 COSM87906185 TP53 soft tissue,smooth muscle,leiomyoma,NS c.517G>T p.V173L 17:7675095-7675095 3
34 COSM87924187 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.595G>T p.G199* 17:7674936-7674936 3
35 COSM87897745 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.524G>A p.R175H 17:7675088-7675088 3
36 COSM87967575 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.631A>G p.T211A 17:7674900-7674900 3
37 COSM87898714 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.844C>T p.R282W 17:7673776-7673776 3
38 COSM87898527 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.814G>A p.V272M 17:7673806-7673806 3
39 COSM87900348 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.1010G>T p.R337L 17:7670699-7670699 3
40 COSM87907134 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.97-2A>T p.? 17:7676274-7676274 3
41 COSM87899497 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.586C>T p.R196* 17:7674945-7674945 3
42 COSM87901548 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.374C>A p.T125K 17:7675995-7675995 3
43 COSM87905185 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.841G>C p.D281H 17:7673779-7673779 3
44 COSM87903333 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.646G>A p.V216M 17:7674885-7674885 3
45 COSM87934286 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.641A>C p.H214P 17:7674890-7674890 3
46 COSM87912393 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.577C>T p.H193Y 17:7674954-7674954 3
47 COSM87919221 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.844C>G p.R282G 17:7673776-7673776 3
48 COSM87907064 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.473G>C p.R158P 17:7675139-7675139 3
49 COSM88168858 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.753C>G p.I251M 17:7674210-7674210 3
50 COSM87903307 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.841G>A p.D281N 17:7673779-7673779 3

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 39)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 VIM PRKCQ PDGFRB PDGFRA KRAS KITLG
2
Show member pathways
13.45 PRKCQ PDGFRB PDGFRA KRAS KITLG KIT
3
Show member pathways
13.37 PRKCQ PDGFRB PDGFRA KRAS KITLG KIT
4
Show member pathways
13.31 VIM PDGFRB PDGFRA KRAS KITLG KIT
5
Show member pathways
13.13 VIM PRKCQ PDGFRB PDGFRA KRAS KITLG
6
Show member pathways
13 PRKCQ PDGFRB PDGFRA KRAS KITLG KIT
7
Show member pathways
12.96 PRKCQ PDGFRB PDGFRA KRAS KITLG KIT
8
Show member pathways
12.8 PDGFRB PDGFRA KRAS KIT BRAF ABL1
9
Show member pathways
12.69 PDGFRB PDGFRA KRAS KITLG KIT BRAF
10
Show member pathways
12.68 PDGFRB PDGFRA KRAS KITLG KIT
11 12.64 PDGFRB PDGFRA KRAS KITLG KIT BRAF
12 12.64 PDGFRB PDGFRA KRAS KITLG KIT BRAF
13
Show member pathways
12.62 PRKCQ PDGFRB PDGFRA KRAS BRAF
14
Show member pathways
12.61 PRKCQ PDGFRB PDGFRA KRAS BRAF
15
Show member pathways
12.56 PDGFRB PDGFRA KRAS BRAF ABL1
16 12.47 VIM PDGFRB PDGFRA KRAS ABL1
17
Show member pathways
12.4 PRKCQ PDGFRB PDGFRA KRAS
18
Show member pathways
12.37 PRKCQ BRAF ACTC1 ABL1
19
Show member pathways
12.31 PDGFRB PDGFRA KRAS KITLG KIT BRAF
20
Show member pathways
12.3 PDGFRB PDGFRA KRAS KITLG KIT
21
Show member pathways
12.27 SDHC SDHB SDHA MTHFR
22
Show member pathways
12.15 PDGFRB PDGFRA KRAS KITLG KIT BRAF
23
Show member pathways
12.09 PDGFRB PDGFRA KRAS KITLG KIT ABL1
24 11.9 PDGFRB PDGFRA KRAS BRAF
25 11.89 PDGFRB PDGFRA KITLG KIT ABL1
26 11.79 PDGFRB PDGFRA KRAS
27 11.74 PRKCQ KRAS BRAF
28 11.72 KITLG KIT CD34
29 11.68 PDGFRB PDGFRA KRAS KITLG BRAF
30 11.58 PDGFRB PDGFRA KRAS KIT
31 11.52 PDGFRA KIT ACTC1
32 11.43 PRKCQ PDGFRB PDGFRA
33 11.35 PDGFRB KRAS BRAF
34
Show member pathways
11.27 PDGFRB PDGFRA KIT
35
Show member pathways
11.27 PDGFRB PDGFRA KIT ABL1
36 11.16 PRKCQ KRAS BRAF
37 11.09 PDGFRB PDGFRA KRAS BRAF
38 10.98 VIM PDGFRB PDGFRA KITLG KIT
39
Show member pathways
10.94 PRKCQ PDGFRB KRAS KIT BRAF

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 respiratory chain complex II GO:0045273 8.96 SDHC SDHB
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHC SDHB SDHA

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 10.07 PRKCQ PDGFRB PDGFRA KIT BRAF ABL1
2 positive regulation of cell proliferation GO:0008284 10.06 PDGFRB PDGFRA KRAS KITLG KIT
3 protein phosphorylation GO:0006468 10 PRKCQ PDGFRB PDGFRA KIT BRAF ABL1
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.93 PDGFRB PDGFRA BRAF ABL1
5 positive regulation of gene expression GO:0010628 9.88 VIM KRAS KIT CD34 BRAF ACTC1
6 positive regulation of protein kinase B signaling GO:0051897 9.87 PDGFRB PDGFRA KITLG KIT
7 protein autophosphorylation GO:0046777 9.86 PDGFRB PDGFRA KIT ABL1
8 electron transport chain GO:0022900 9.83 SDHC SDHB SDHA
9 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.83 PDGFRB PDGFRA KIT
10 positive regulation of kinase activity GO:0033674 9.82 PDGFRB PDGFRA KIT
11 hematopoietic progenitor cell differentiation GO:0002244 9.82 PDGFRB PDGFRA KIT
12 visual learning GO:0008542 9.72 KRAS KIT BRAF
13 tricarboxylic acid cycle GO:0006099 9.69 SDHC SDHB SDHA
14 cell chemotaxis GO:0060326 9.67 PRKCQ PDGFRB PDGFRA KIT
15 methionine biosynthetic process GO:0009086 9.65 MTRR MTHFR
16 Bergmann glial cell differentiation GO:0060020 9.64 VIM ABL1
17 retina vasculature development in camera-type eye GO:0061298 9.63 PDGFRB PDGFRA
18 platelet-derived growth factor receptor signaling pathway GO:0048008 9.63 PDGFRB PDGFRA ABL1
19 homocysteine metabolic process GO:0050667 9.62 MTRR MTHFR
20 alpha-beta T cell differentiation GO:0046632 9.62 BRAF ABL1
21 ectopic germ cell programmed cell death GO:0035234 9.61 KITLG KIT
22 methionine metabolic process GO:0006555 9.61 MTRR MTHFR
23 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.61 PDGFRB PDGFRA KIT
24 succinate metabolic process GO:0006105 9.6 SDHB SDHA
25 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.58 SDHC SDHA
26 myeloid progenitor cell differentiation GO:0002318 9.58 KIT BRAF
27 positive regulation of MAP kinase activity GO:0043406 9.56 PDGFRB KRAS KITLG KIT
28 platelet-derived growth factor receptor-beta signaling pathway GO:0035791 9.54 PDGFRB ABL1
29 cardiac myofibril assembly GO:0055003 9.5 PDGFRB PDGFRA ACTC1
30 metanephric glomerular capillary formation GO:0072277 9.49 PDGFRB PDGFRA
31 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.48 PDGFRB PDGFRA
32 peptidyl-tyrosine phosphorylation GO:0018108 9.35 PDGFRB PDGFRA KIT BRAF ABL1
33 positive regulation of phospholipase C activity GO:0010863 9.33 PDGFRB PDGFRA KIT
34 MAPK cascade GO:0000165 9.17 PDGFRB PDGFRA MEN1 KRAS KITLG KIT

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.08 PRKCQ PDGFRB PDGFRA KRAS KIT BRAF
2 kinase activity GO:0016301 9.85 PRKCQ PDGFRB PDGFRA KIT BRAF ABL1
3 protein kinase activity GO:0004672 9.73 PRKCQ PDGFRB PDGFRA KIT BRAF ABL1
4 electron transfer activity GO:0009055 9.67 SDHC SDHB SDHA
5 flavin adenine dinucleotide binding GO:0050660 9.63 SDHA MTRR MTHFR
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.58 PDGFRB PDGFRA KIT
7 platelet-derived growth factor binding GO:0048407 9.51 PDGFRB PDGFRA
8 growth factor binding GO:0019838 9.5 PDGFRB PDGFRA KIT
9 vascular endothelial growth factor binding GO:0038085 9.43 PDGFRB PDGFRA
10 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.16 SDHB SDHA
11 protein tyrosine kinase activity GO:0004713 9.02 PDGFRB PDGFRA KIT BRAF ABL1
12 succinate dehydrogenase activity GO:0000104 8.96 SDHC SDHA

Sources for Gastrointestinal Stromal Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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