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GIST
MCID: GST019
MIFTS: 78

Gastrointestinal Stromal Tumor (GIST)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Gastrointestinal Stromal Tumor

About this section

MalaCards integrated aliases for Gastrointestinal Stromal Tumor:

Name: Gastrointestinal Stromal Tumor 57 12 43 58 72 29 13 54 6 15
Gist 57 12 20 43 58 72
Gastrointestinal Stromal Sarcoma 20 43 58 70
Gastrointestinal Stromal Tumors 20 44 15 70
Gastrointestinal Stromal Tumor, Familial 57 29 6
Paraganglioma and Gastric Stromal Sarcoma 70
Stromal Tumour of Gastrointestinal Tract 12
Stromal Tumor of Gastrointestinal Tract 12
Gastrointestinal Stromal Neoplasm 43
Gastrointestinal Stromal Tumour 12
Plexosarcoma 70
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®:

57 (Updated 05-Apr-2021)
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 12 DOID:9253
OMIM® 57 606764
MeSH 44 D046152
NCIt 50 C3868
SNOMED-CT 67 128755003
ICD10 32 C49.A
MESH via Orphanet 45 D046152
ICD10 via Orphanet 33 C26.9
UMLS via Orphanet 71 C0238198 C3179349
Orphanet 58 ORPHA44890
MedGen 41 C0238198
UMLS 70 C0238198 C1847319 C2931518 more
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Summaries for Gastrointestinal Stromal Tumor

About this section
GARD : 20 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 mesenchymal cell neoplasm. An important gene associated with Gastrointestinal Stromal Tumor is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Midazolam and Caffeine 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

MedlinePlus Genetics : 43 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® : 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 (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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the... more...

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Related Diseases for Gastrointestinal Stromal Tumor

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

(show top 50) (show all 750)
# Related Disease Score Top Affiliating Genes
1 paraganglioma and gastric stromal sarcoma 33.3 SDHC SDHB SDHA PDGFRB PDGFRA MEN1
2 mesenchymal cell neoplasm 32.6 PDGFRB PDGFRA NTRK3 KIT CD34
3 leiomyosarcoma 32.2 VIM PDGFRB PDGFRA KIT ACTC1
4 leiomyoma 32.1 VIM PDGFRA KIT CD34 ACTC1
5 adenocarcinoma 32.1 PDGFRB NTRK3 KRAS KIT BRAF
6 neurilemmoma 31.8 VIM PDGFRB PDGFRA KIT CD34 ACTC1
7 paraganglioma 31.8 SDHC SDHB SDHA MEN1 KIT
8 spindle cell sarcoma 31.7 VIM NTRK3 KIT CD34 ACTC1
9 rare tumor 31.7 KIT ACTC1
10 neurofibroma 31.7 VIM PDGFRA KITLG KIT CD34 ACTC1
11 carney triad 31.6 SDHC SDHB SDHA PDGFRA KIT
12 desmoid tumor 31.6 PDGFRB PDGFRA KIT CD34 ACTC1
13 neurofibromatosis, type i 31.5 SDHC SDHB PDGFRA MEN1 KRAS KITLG
14 smooth muscle tumor 31.5 VIM KIT CD34 ACTC1
15 chondroma 31.4 SDHC SDHB SDHA PDGFRA KIT ACTC1
16 gastric leiomyosarcoma 31.4 SDHC SDHB SDHA PDGFRA KIT
17 inflammatory myofibroblastic tumor 31.4 VIM NTRK3 KIT CD34 ACTC1
18 pheochromocytoma 31.4 VIM SDHC SDHB SDHA PDGFRB MEN1
19 hemangioma 31.4 VIM MEN1 KRAS KIT CD34 ACTC1
20 deficiency anemia 31.4 KITLG KIT FLT3 CD34 ABL1
21 glomus tumor 31.3 VIM SDHB CD34 ACTC1
22 rhabdomyosarcoma 31.3 VIM SDHC SDHA PDGFRB PDGFRA KRAS
23 angiosarcoma 31.3 VIM KRAS KIT CD34
24 jejunal neoplasm 31.2 KIT CD34
25 neuroendocrine carcinoma 31.2 PDGFRA MEN1 KIT
26 mastocytosis 31.2 PDGFRB PDGFRA NTRK3 KITLG KIT FLT3
27 hereditary paraganglioma-pheochromocytoma syndromes 31.1 SDHC SDHB SDHA
28 thrombocytopenia 31.1 PDGFRA KRAS KITLG KIT FLT3 CD34
29 leukemia, chronic myeloid 31.1 PDGFRB PDGFRA NTRK3 KRAS KITLG KIT
30 malignant fibrous histiocytoma 31.1 VIM PDGFRB ACTC1
31 malignant peripheral nerve sheath tumor 31.1 VIM PDGFRB PDGFRA KIT CD34 ACTC1
32 dermatofibrosarcoma protuberans 31.1 VIM PDGFRB PDGFRA KIT CD34 ACTC1
33 perivascular epithelioid cell tumor 31.1 VIM NTRK3 KIT ACTC1
34 gastric adenocarcinoma 31.1 KRAS KIT HOTAIR BRAF
35 sarcoma 31.1 VIM PDGFRA KRAS KIT HOTAIR ETV1
36 hypereosinophilic syndrome 31.1 PDGFRB PDGFRA KIT ABL1
37 polycythemia vera 31.0 PDGFRB PDGFRA KITLG KIT ABL1
38 melanoma 31.0 VIM PDGFRB PDGFRA KRAS KIT HOTAIR
39 well-differentiated liposarcoma 31.0 PDGFRA KIT CD34
40 skin melanoma 31.0 PDGFRA KRAS KITLG KIT BRAF
41 angiomyolipoma 31.0 VIM KIT ACTC1
42 lipomatosis, multiple 31.0 MEN1 KIT CD34
43 skin carcinoma 31.0 PDGFRA KRAS KITLG KIT CD34 BRAF
44 leiomyomatosis 31.0 SDHB KIT ABL1
45 gastric leiomyoma 31.0 PDGFRA KIT
46 small cell carcinoma 31.0 PDGFRA KRAS KIT
47 severe combined immunodeficiency 31.0 KITLG KIT FLT3 CD34
48 myelodysplastic syndrome 31.0 PDGFRB KRAS KITLG KIT FLT3 CD34
49 renal cell carcinoma, nonpapillary 30.9 VIM SDHC SDHB PDGFRB PDGFRA KIT
50 esophagus leiomyoma 30.9 SDHC SDHB SDHA PDGFRA

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



Diseases related to Gastrointestinal Stromal Tumor
Sources

Symptoms & Phenotypes for Gastrointestinal Stromal Tumor

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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 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
5 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
6 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
7 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
8 gastrointestinal hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002239
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 irregular hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007400
12 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

26 (show top 50) (show all 59)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.74 BRAF KRAS
2 Decreased viability GR00055-A-2 10.74 BRAF KRAS
3 Decreased viability GR00055-A-3 10.74 KRAS
4 Decreased viability GR00106-A-0 10.74 KRAS
5 Decreased viability GR00107-A-1 10.74 PRKCQ
6 Decreased viability GR00173-A 10.74 FLT3 PDGFRA PRKCQ
7 Decreased viability GR00221-A-1 10.74 FLT3 PDGFRA PRKCQ PDGFRB ABL1 KIT
8 Decreased viability GR00221-A-2 10.74 PRKCQ NTRK3 ABL1 KRAS
9 Decreased viability GR00221-A-3 10.74 PDGFRA PRKCQ PDGFRB ABL1
10 Decreased viability GR00221-A-4 10.74 FLT3 PDGFRA PRKCQ BRAF NTRK3 PDGFRB
11 Decreased viability GR00249-S 10.74 PDGFRA BRAF
12 Decreased viability GR00301-A 10.74 BRAF KIT KRAS
13 Decreased viability GR00342-S-1 10.74 PDGFRB ABL1
14 Decreased viability GR00342-S-2 10.74 ABL1
15 Decreased viability GR00342-S-3 10.74 ABL1
16 Decreased viability GR00381-A-1 10.74 BRAF KRAS
17 Decreased viability GR00402-S-2 10.74 PDGFRA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10 VIM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10 ETV1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10 MEN1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10 KRAS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10 MEN1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10 NTRK3
24 Increased shRNA abundance (Z-score > 2) GR00366-A-141 10 ETV1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10 NTRK3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10 BRAF
27 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10 ABL1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10 KIT NTRK3
29 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10 MEN1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10 ABL1 KIT
31 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10 KIT
32 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10 ETV1 VIM
33 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10 VIM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-193 10 ETV1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10 ABL1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10 KRAS
37 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10 ABL1 KIT NTRK3
38 Increased shRNA abundance (Z-score > 2) GR00366-A-34 10 ABL1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10 NTRK3
40 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10 NTRK3
41 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10 ABL1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10 BRAF MEN1 ABL1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-53 10 ETV1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10 NTRK3
45 Increased shRNA abundance (Z-score > 2) GR00366-A-61 10 KIT
46 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10 KRAS VIM
47 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10 ABL1 KIT NTRK3
48 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10 KIT
49 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10 ETV1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-98 10 MEN1

MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.47 ABL1 ACTC1 BRAF CD34 ETV1 FLT3
2 homeostasis/metabolism MP:0005376 10.43 ABL1 ACTC1 BRAF CD34 FLT3 KIT
3 growth/size/body region MP:0005378 10.42 ABL1 ACTC1 BRAF ETV1 FLT3 KIT
4 mortality/aging MP:0010768 10.42 ABL1 ACTC1 BRAF ETV1 FLT3 KIT
5 cardiovascular system MP:0005385 10.38 ABL1 ACTC1 BRAF KIT KITLG KRAS
6 hematopoietic system MP:0005397 10.38 ABL1 ACTC1 BRAF CD34 FLT3 KIT
7 immune system MP:0005387 10.32 ABL1 BRAF CD34 FLT3 KIT KITLG
8 endocrine/exocrine gland MP:0005379 10.3 ABL1 BRAF FLT3 KIT KITLG KRAS
9 craniofacial MP:0005382 10.28 ABL1 ACTC1 BRAF KIT KITLG KRAS
10 embryo MP:0005380 10.27 ABL1 ACTC1 BRAF KIT KITLG KRAS
11 muscle MP:0005369 10.26 ABL1 ACTC1 BRAF ETV1 KIT KRAS
12 nervous system MP:0003631 10.25 ABL1 ACTC1 BRAF ETV1 KIT KITLG
13 digestive/alimentary MP:0005381 10.23 ABL1 BRAF KIT KITLG KRAS MEN1
14 neoplasm MP:0002006 10.2 BRAF CD34 FLT3 KIT KITLG KRAS
15 normal MP:0002873 10.11 ABL1 ACTC1 BRAF ETV1 KIT KRAS
16 reproductive system MP:0005389 9.96 BRAF KIT KITLG KRAS MEN1 NTRK3
17 no phenotypic analysis MP:0003012 9.95 FLT3 KIT KRAS NTRK3 PDGFRA PRKCQ
18 pigmentation MP:0001186 9.8 BRAF KIT KITLG KRAS PDGFRA PRKCQ
19 respiratory system MP:0005388 9.76 ABL1 BRAF KIT KRAS NTRK3 PDGFRA
20 skeleton MP:0005390 9.65 ABL1 BRAF FLT3 KIT KITLG KRAS
21 vision/eye MP:0005391 9.32 ABL1 BRAF KIT KITLG KRAS NTRK3
Sources

Drugs & Therapeutics for Gastrointestinal Stromal Tumor

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

(show top 50) (show all 181)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
2
Caffeine Approved Phase 4 58-08-2 2519
3
Esomeprazole Approved, Investigational Phase 4 161973-10-0, 161796-78-7, 119141-88-7 4594 9568614
4
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
5
Lactitol Approved, Investigational Phase 4 585-86-4 157355
6 Neurotransmitter Agents Phase 4
7 Central Nervous System Stimulants Phase 4
8 Psychotropic Drugs Phase 4
9 Hypnotics and Sedatives Phase 4
10
Erlotinib Hydrochloride Phase 4 183319-69-9 176871
11 GABA Modulators Phase 4
12 Anesthetics, Intravenous Phase 4
13 Anesthetics, General Phase 4
14 Phosphodiesterase Inhibitors Phase 4
15 Gastrointestinal Agents Phase 4
16 Anti-Ulcer Agents Phase 4
17 Antacids Phase 4
18 Proton Pump Inhibitors Phase 4
19 Protein Kinase Inhibitors Phase 4
20 Imatinib Mesylate Phase 4 220127-57-1 123596
21
Formaldehyde Approved, Vet_approved Phase 3 50-00-0 712
22
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
23 Orange Approved Phase 2, Phase 3
24
Dasatinib Approved, Investigational Phase 3 302962-49-8 3062316
25
Bevacizumab Approved, Investigational Phase 3 216974-75-3
26
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
27 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
28
Crenolanib Investigational Phase 3 670220-88-9 10366136
29 Hormones Phase 3
30 Calcium, Dietary Phase 3
31 Narcotics Phase 3
32 Analgesics, Opioid Phase 3
33 carnitine Phase 3
34 Mitogens Phase 3
35 Immunologic Factors Phase 3
36 Antibodies Phase 3
37 Immunoglobulins Phase 3
38 Antibodies, Monoclonal Phase 3
39 Antineoplastic Agents, Immunological Phase 3
40 Endothelial Growth Factors Phase 3
41 Immunoglobulin G Phase 3
42 Immunoglobulins, Intravenous Phase 3
43
Calcium Nutraceutical Phase 3 7440-70-2 271
44
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
45
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
46
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
47
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
48
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
49
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
50
Octreotide Approved, Investigational Phase 2 83150-76-9 6400441 383414

Interventional clinical trials:

(show top 50) (show all 306)
# Name Status NCT ID Phase Drugs
1 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
2 Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors Unknown status NCT00777504 Phase 4 usage oral angiogenesis inhibitor;stop oral angiogenesis inhibitor
3 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
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 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
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 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)
8 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
9 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 Active, not recruiting NCT01735955 Phase 4 AMN107
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 Extension Protocol for Patients Previously Treated in Avapritinib Clinical Trials Not yet recruiting NCT04825574 Phase 4 Avapritinib
12 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
13 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
14 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 Unknown status NCT02576080 Phase 3 Imatinib
15 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
16 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
17 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
18 An Open-label Trial of Glivec in Patients With Unresectable or Metastatic Malignant Gastrointestinal Stromal Tumors Expressing C-kit. Completed NCT00293124 Phase 3 Glivec
19 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)
20 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) Completed NCT03426722 Phase 3 L-carnitine;Placebo
21 A Phase III Randomized Double-Blind Study of Adjuvant STI571 (Gleevecâ„¢) Versus Placebo in Patients Following the Resection of Primary Gastrointestinal Stromal Tumor (GIST) Completed NCT00041197 Phase 3 imatinib mesylate
22 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
23 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
24 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
25 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
26 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
27 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 Completed NCT01694277 Phase 3 Masitinib;Sunitinib
28 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
29 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
30 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
31 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®
32 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
33 Rehabilitation, Brain Function and Early Schizophrenia Completed NCT00167362 Phase 3
34 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
35 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 Recruiting NCT04409223 Phase 3 Famitinib capsules;Sunitinib Capsules
36 Near-infrared Fluorescence Imaging With IndoCyanine Green for the Intraoperative Identification of Gastrointestinal Stromal Cell Tumours: a Pilot Study Recruiting NCT04761172 Phase 2, Phase 3
37 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
38 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
39 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 Active, not recruiting NCT02847429 Phase 3 Crenolanib;Placebo
40 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
41 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 Active, not recruiting NCT03673501 Phase 3 DCC-2618;Sunitinib
42 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
43 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
44 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
45 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
46 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
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 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
49 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
50 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

Search NIH Clinical Center for Gastrointestinal Stromal Tumor

Inferred drug relations via UMLS 70 / NDF-RT 51 :


regorafenib
sunitinib
sunitinib malate

Cochrane evidence based reviews: gastrointestinal stromal tumors

Sources

Genetic Tests for Gastrointestinal Stromal Tumor

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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
Sources

Anatomical Context for Gastrointestinal Stromal Tumor

About this section

MalaCards organs/tissues related to Gastrointestinal Stromal Tumor:

40
Liver, Small Intestine, Colon, Pancreas, Smooth Muscle, Breast, Bone
Sources

Publications for Gastrointestinal Stromal Tumor

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Articles related to Gastrointestinal Stromal Tumor:

(show top 50) (show all 9043)
# Title Authors PMID Year
1
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. 61 6 57
21173220 2011
2
Gastrointestinal stromal tumors in a mouse model by targeted mutation of the Kit receptor tyrosine kinase. 61 57 6
12754375 2003
3
PDGFRA activating mutations in gastrointestinal stromal tumors. 54 57 6
12522257 2003
4
Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. 57 6 61
11505412 2001
5
Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors. 6 57 54
11073817 2000
6
Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. 57 6
9697690 1998
7
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 57 6
9438854 1998
8
Activity of dasatinib, a dual SRC/ABL kinase inhibitor, and IPI-504, a heat shock protein 90 inhibitor, against gastrointestinal stromal tumor-associated PDGFRAD842V mutation. 6 61 54
18794084 2008
9
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
10
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 61 54
17566086 2007
11
A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors. 6 54 61
15824741 2005
12
Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: therapeutic implications through protein modeling. 6 61 54
15897563 2005
13
A new mutation in the KIT ATP pocket causes acquired resistance to imatinib in a gastrointestinal stromal tumor patient. 54 6 61
15236194 2004
14
Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. 6 61 54
14645423 2003
15
Altered chromosomal topology drives oncogenic programs in SDH-deficient GISTs. 61 57
31666694 2019
16
The phenotype of SDHB germline mutation carriers: a nationwide study. 6 61
28490599 2017
17
Efficacy of Imatinib in Patients with Platelet-Derived Growth Factor Receptor Alpha-Mutated Gastrointestinal Stromal Tumors. 61 6
26130666 2016
18
Familial gastrointestinal stromal tumor syndrome: report of 2 cases with KIT exon 11 mutation. 61 6
25504284 2015
19
Germline SDHC mutation presenting as recurrent SDH deficient GIST and renal carcinoma. 6 61
24150194 2013
20
A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis. 6 61
23598963 2013
21
BRAF mutant gastrointestinal stromal tumor: first report of regression with BRAF inhibitor dabrafenib (GSK2118436) and whole exomic sequencing for analysis of acquired resistance. 61 6
23470635 2013
22
Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. 61 6
23282968 2013
23
Outcome of patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors in the tyrosine kinase inhibitor era. 61 6
22718859 2012
24
Crenolanib inhibits the drug-resistant PDGFRA D842V mutation associated with imatinib-resistant gastrointestinal stromal tumors. 6 61
22745105 2012
25
KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors. 61 6
22282465 2012
26
Imatinib potentiates antitumor T cell responses in gastrointestinal stromal tumor through the inhibition of Ido. 57 61
21873989 2011
27
Alternatively spliced NKp30 isoforms affect the prognosis of gastrointestinal stromal tumors. 61 57
21552268 2011
28
ETV1 is a lineage survival factor that cooperates with KIT in gastrointestinal stromal tumours. 61 57
20927104 2010
29
Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl. 6 61
20418362 2010
30
V600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours. 61 6
19561230 2009
31
KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients. 61 6
19164557 2009
32
Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumor. 6 61
17943734 2008
33
Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KIT K642E mutation. 6 61
17824795 2007
34
Sorafenib inhibits the imatinib-resistant KITT670I gatekeeper mutation in gastrointestinal stromal tumor. 61 6
17699867 2007
35
Characterization of tyrosine kinase I domain c-kit gene mutation Asn655Lys newly found in primary jejunal gastrointestinal stromal tumor. 6 61
17489795 2007
36
Resistance to c-KIT kinase inhibitors conferred by V654A mutation. 61 6
17363509 2007
37
Ménétrier disease and gastrointestinal stromal tumors: hyperproliferative disorders of the stomach. 61 57
17200708 2007
38
Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. 61 6
17087943 2006
39
Effects of PKC412, nilotinib, and imatinib against GIST-associated PDGFRA mutants with differential imatinib sensitivity. 61 6
17087936 2006
40
Molecular correlates of imatinib resistance in gastrointestinal stromal tumors. 61 6
16954519 2006
41
A new familial GIST identified. 61 6
17001171 2006
42
Functional analyses and molecular modeling of two c-Kit mutations responsible for imatinib secondary resistance in GIST patients. 61 6
16751810 2006
43
Efficacy of the kinase inhibitor SU11248 against gastrointestinal stromal tumor mutants refractory to imatinib mesylate. 61 6
16638875 2006
44
Structure and regulation of Kit protein-tyrosine kinase--the stem cell factor receptor. 54 6
16226710 2005
45
PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. 6 54
15928335 2005
46
Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants. 6 61
15685537 2005
47
Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia. 6 61
14977822 2004
48
PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. 61 57
14699510 2004
49
Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors. 6 54
12949711 2003
50
STI571 inactivation of the gastrointestinal stromal tumor c-KIT oncoprotein: biological and clinical implications. 61 6
11526490 2001
Sources

Variations for Gastrointestinal Stromal Tumor

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ClinVar genetic disease variations for Gastrointestinal Stromal Tumor:

6 (show top 50) (show all 3123)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDGFRA NM_006206.6(PDGFRA):c.2533_2544del (p.His845_Asn848del) Deletion Pathogenic 13545 rs587776793 GRCh37: 4:55152101-55152112
GRCh38: 4:54285934-54285945
2 PDGFRA NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp) SNV Pathogenic 13546 rs121908586 GRCh37: 4:55141036-55141036
GRCh38: 4:54274869-54274869
3 PDGFRA NM_006206.6(PDGFRA):c.1681_1682insAGAGGG (p.Val561_Ile562insGluArg) Insertion Pathogenic 13547 rs587776794 GRCh37: 4:55141030-55141031
GRCh38: 4:54274863-54274864
4 PDGFRA NM_006206.6(PDGFRA):c.1679_1693del (p.Arg560_Ser564del) Deletion Pathogenic 13548 rs587776795 GRCh37: 4:55141032-55141046
GRCh38: 4:54274865-54274879
5 PDGFRA NM_006206.6(PDGFRA):c.1696_1713del (p.Ser566_Glu571del) Deletion Pathogenic 13549 rs606231209 GRCh37: 4:55141050-55141067
GRCh38: 4:54274883-54274900
6 SDHC NM_003001.3(SDHC):c.405+1G>A SNV Pathogenic 7244 rs587776653 GRCh37: 1:161326631-161326631
GRCh38: 1:161356841-161356841
7 PDGFRA NM_006206.6(PDGFRA):c.2525A>T (p.Asp842Val) SNV Pathogenic 13543 rs121908585 GRCh37: 4:55152093-55152093
GRCh38: 4:54285926-54285926
8 SDHB NM_003000.2(SDHB):c.-151_*159del Deletion Pathogenic 239419 GRCh37: 1:17345217-17380665
GRCh38: 1:17018722-17054170
9 SDHC NM_003001.3(SDHC):c.406-?_*2318+?del Deletion Pathogenic 239456 GRCh37:
GRCh38:
10 SDHB NM_003000.2(SDHB):c.271A>T (p.Arg91Ter) SNV Pathogenic 239427 rs878854575 GRCh37: 1:17359570-17359570
GRCh38: 1:17033075-17033075
11 SDHB NM_003000.2(SDHB):c.126del (p.Phe42fs) Deletion Pathogenic 239421 rs878854572 GRCh37: 1:17371330-17371330
GRCh38: 1:17044835-17044835
12 PDGFRA NM_006206.6(PDGFRA):c.1977C>A (p.Asn659Lys) SNV Pathogenic 375901 rs1057519700 GRCh37: 4:55144148-55144148
GRCh38: 4:54277981-54277981
13 PDGFRA NM_006206.6(PDGFRA):c.1977C>G (p.Asn659Lys) SNV Pathogenic 375902 rs1057519700 GRCh37: 4:55144148-55144148
GRCh38: 4:54277981-54277981
14 SDHB NM_003000.2(SDHB):c.374C>G (p.Ser125Ter) SNV Pathogenic 412455 rs786203506 GRCh37: 1:17355144-17355144
GRCh38: 1:17028649-17028649
15 SDHB NM_003000.2(SDHB):c.602G>A (p.Trp201Ter) SNV Pathogenic 412470 rs1060503759 GRCh37: 1:17350508-17350508
GRCh38: 1:17024013-17024013
16 SDHB NM_003000.2(SDHB):c.441T>G (p.Tyr147Ter) SNV Pathogenic 412476 rs1060503763 GRCh37: 1:17354343-17354343
GRCh38: 1:17027848-17027848
17 SDHB NM_003000.2(SDHB):c.499A>T (p.Lys167Ter) SNV Pathogenic 412456 rs1060503753 GRCh37: 1:17354285-17354285
GRCh38: 1:17027790-17027790
18 SDHB NC_000001.11:g.(?_17044761)_(17044888_?)del Deletion Pathogenic 417581 GRCh37: 1:17371256-17371383
GRCh38: 1:17044761-17044888
19 SDHB NM_003000.2(SDHB):c.620_621del (p.Leu207fs) Deletion Pathogenic 412454 rs1060503752 GRCh37: 1:17350489-17350490
GRCh38: 1:17023994-17023995
20 SDHB NM_003000.2(SDHB):c.591del (p.Ser198fs) Deletion Pathogenic 412462 rs1060503757 GRCh37: 1:17350519-17350519
GRCh38: 1:17024024-17024024
21 SDHB NM_003000.2(SDHB):c.141G>A (p.Trp47Ter) SNV Pathogenic 412474 rs1060503762 GRCh37: 1:17371315-17371315
GRCh38: 1:17044820-17044820
22 SDHB NM_003000.2(SDHB):c.221A>C (p.Asp74Ala) SNV Pathogenic 230694 rs876658713 GRCh37: 1:17359620-17359620
GRCh38: 1:17033125-17033125
23 SDHB NM_003000.2(SDHB):c.717dup (p.Leu240fs) Duplication Pathogenic 412481 rs1060503764 GRCh37: 1:17349150-17349151
GRCh38: 1:17022655-17022656
24 SDHB NM_003000.2(SDHB):c.329_330CT[1] (p.Leu111fs) Microsatellite Pathogenic 412453 rs1060503751 GRCh37: 1:17355186-17355187
GRCh38: 1:17028691-17028692
25 SDHB NM_003000.2(SDHB):c.697A>T (p.Lys233Ter) SNV Pathogenic 468235 rs1553177285 GRCh37: 1:17349171-17349171
GRCh38: 1:17022676-17022676
26 SDHB NM_003000.2(SDHB):c.200+5G>C SNV Pathogenic 440259 rs1553178726 GRCh37: 1:17371251-17371251
GRCh38: 1:17044756-17044756
27 SDHB NC_000001.10:g.(?_17380437)_(17380520_?)del Deletion Pathogenic 468232 GRCh37: 1:17380437-17380520
GRCh38:
28 SDHB NM_003000.2(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs) Insertion Pathogenic 468238 rs1209914140 GRCh37: 1:17349182-17349183
GRCh38: 1:17022687-17022688
29 SDHB NM_003000.2(SDHB):c.190del (p.Asp64fs) Deletion Pathogenic 468233 rs1553178729 GRCh37: 1:17371266-17371266
GRCh38: 1:17044771-17044771
30 SDHB NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) SNV Pathogenic 197210 rs751000085 GRCh37: 1:17355175-17355175
GRCh38: 1:17028680-17028680
31 SDHB NM_003000.2(SDHB):c.505C>T (p.Gln169Ter) SNV Pathogenic 528736 rs1553177676 GRCh37: 1:17354279-17354279
GRCh38: 1:17027784-17027784
32 SDHB NM_003000.2(SDHB):c.608del (p.Gly203fs) Deletion Pathogenic 528737 rs1553177436 GRCh37: 1:17350502-17350502
GRCh38: 1:17024007-17024007
33 SDHB NM_003000.2(SDHB):c.112del (p.Arg38fs) Deletion Pathogenic 528741 rs398123690 GRCh37: 1:17371344-17371344
GRCh38: 1:17044849-17044849
34 SDHB NM_003000.2(SDHB):c.286+1G>A SNV Pathogenic 183757 rs786201063 GRCh37: 1:17359554-17359554
GRCh38: 1:17033059-17033059
35 SDHB NM_003000.2(SDHB):c.491del (p.Gln164fs) Deletion Pathogenic 528750 rs1553177678 GRCh37: 1:17354293-17354293
GRCh38: 1:17027798-17027798
36 SDHB NC_000001.11:g.(?_17033054)_(17033151_?)del Deletion Pathogenic 528762 GRCh37: 1:17359549-17359646
GRCh38: 1:17033054-17033151
37 SDHC NM_003001.5(SDHC):c.215del (p.Arg72fs) Deletion Pathogenic 534368 rs1553264218 GRCh37: 1:161310419-161310419
GRCh38: 1:161340629-161340629
38 SDHC NC_000001.11:g.(?_161314400)_(161362439_?)del Deletion Pathogenic 534384 GRCh37: 1:161284190-161332229
GRCh38: 1:161314400-161362439
39 SDHB NM_003000.2(SDHB):c.399dup (p.Tyr134fs) Duplication Pathogenic 579501 rs1557741425 GRCh37: 1:17355118-17355119
GRCh38: 1:17028623-17028624
40 SDHC NM_003001.5(SDHC):c.1A>G (p.Met1Val) SNV Pathogenic 407060 rs755235380 GRCh37: 1:161284196-161284196
GRCh38: 1:161314406-161314406
41 SDHB NC_000001.11:g.(?_17033050)_(17033155_?)del Deletion Pathogenic 583569 GRCh37: 1:17359545-17359650
GRCh38: 1:17033050-17033155
42 SDHB NC_000001.11:g.(?_17018875)_(17033151_?)del Deletion Pathogenic 583909 GRCh37: 1:17345370-17359646
GRCh38: 1:17018875-17033151
43 overlap with 2 genes NC_000001.11:g.(?_17018881)_(17071491_?)del Deletion Pathogenic 584021 GRCh37: 1:17345376-17397986
GRCh38: 1:17018881-17071491
44 SDHB NM_003000.2(SDHB):c.609_622dup (p.Gly208fs) Duplication Pathogenic 642173 rs1570945796 GRCh37: 1:17350487-17350488
GRCh38: 1:17023992-17023993
45 SDHC NC_000001.11:g.(?_161356667)_(161356850_?)del Deletion Pathogenic 644840 GRCh37: 1:161326457-161326640
GRCh38: 1:161356667-161356850
46 SDHB NC_000001.11:g.(?_17053938)_(17054029_?)del Deletion Pathogenic 583582 GRCh37: 1:17380433-17380524
GRCh38: 1:17053938-17054029
47 SDHB NM_003000.2(SDHB):c.148_151dup (p.Lys51fs) Duplication Pathogenic 642012 rs1570958022 GRCh37: 1:17371304-17371305
GRCh38: 1:17044809-17044810
48 SDHB NM_003000.2(SDHB):c.683_684delAG Microsatellite Pathogenic 438428 rs762812025 GRCh37: 1:17349184-17349185
GRCh38: 1:17022689-17022690
49 SDHB NM_003000.2(SDHB):c.136C>G (p.Arg46Gly) SNV Pathogenic 12785 rs74315370 GRCh37: 1:17371320-17371320
GRCh38: 1:17044825-17044825
50 SDHB NM_003000.2(SDHB):c.311delinsGG (p.Asn104fs) Indel Pathogenic 184177 rs786201316 GRCh37: 1:17355207-17355207
GRCh38: 1:17028712-17028712

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

72
# 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 2778)
# 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 COSM149299330 ZFHX3 soft tissue,stomach,gastrointestinal stromal tumour,NS c.8504G>C p.C2835S 16:72794178-72794178 3
3 COSM102044775 ZFHX3 soft tissue,smooth muscle,leiomyosarcoma,NS c.-23-6668A>G p.? 16:72957633-72957633 3
4 COSM102034982 ZFHX3 soft tissue,stomach,gastrointestinal stromal tumour,NS c.5762G>C p.C1921S 16:72794178-72794178 3
5 COSM87293976 ZFHX3 soft tissue,smooth muscle,leiomyosarcoma,NS c.2513A>G p.N838S 16:72957633-72957633 3
6 COSM87284592 ZFHX3 soft tissue,stomach,gastrointestinal stromal tumour,NS c.8504G>C p.C2835S 16:72794178-72794178 3
7 COSM89894337 YES1 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1105A>T p.K369* 18:739767-739767 3
8 COSM152022024 YES1 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1105A>T p.K369* 18:739767-739767 3
9 COSM136836203 YES1 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1120A>T p.K374* 18:739767-739767 3
10 COSM104236272 XPO1 soft tissue,smooth muscle,leiomyosarcoma,NS c.782G>A p.R261Q 2:61496985-61496985 3
11 COSM101976974 XPO1 soft tissue,smooth muscle,leiomyosarcoma,NS c.782G>A p.R261Q 2:61496985-61496985 3
12 COSM104882801 XPO1 soft tissue,smooth muscle,leiomyosarcoma,NS c.782G>A p.R261Q 2:61496985-61496985 3
13 COSM148791748 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1079C>A p.T360N 9:132911064-132911064 3
14 COSM147982566 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1079C>A p.T360N 9:132911064-132911064 3
15 COSM151103730 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1122C>A p.N374K 9:132911064-132911064 3
16 COSM151874979 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1079C>A p.T360N 9:132911064-132911064 3
17 COSM102541613 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.*317C>A p.? 9:132911064-132911064 3
18 COSM150523552 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1079C>A p.T360N 9:132911064-132911064 3
19 COSM148126195 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1079C>A p.T360N 9:132911064-132911064 3
20 COSM149038920 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1079C>A p.T360N 9:132911064-132911064 3
21 COSM150677027 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1079C>A p.T360N 9:132911064-132911064 3
22 COSM150536467 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.926C>A p.T309N 9:132911064-132911064 3
23 COSM111040244 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1079C>A p.T360N 9:132911064-132911064 3
24 COSM148033864 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1079C>A p.T360N 9:132911064-132911064 3
25 COSM133086425 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.926C>A p.T309N 9:132911064-132911064 3
26 COSM151895912 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1079C>A p.T360N 9:132911064-132911064 3
27 COSM85719005 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1079C>A p.T360N 9:132911064-132911064 3
28 COSM151333783 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1079C>A p.T360N 9:132911064-132911064 3
29 COSM114698338 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1118G>A p.S373N 3:189886456-189886456 3
30 COSM98178808 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1412G>A p.S471N 3:189886456-189886456 3
31 COSM107914108 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1400G>A p.S467N 3:189886456-189886456 3
32 COSM89466891 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1130G>A p.S377N 3:189886456-189886456 3
33 COSM90500548 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1412G>A p.S471N 3:189886456-189886456 3
34 COSM113487880 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.875G>A p.S292N 3:189886456-189886456 3
35 COSM98207989 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1130G>A p.S377N 3:189886456-189886456 3
36 COSM88668675 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1412G>A p.S471N 3:189886456-189886456 3
37 COSM98192621 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1130G>A p.S377N 3:189886456-189886456 3
38 COSM144100083 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.331T>G p.F111V 17:7673812-7673812 3
39 COSM106055950 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.374C>A p.T125K 17:7675995-7675995 3
40 COSM87906130 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.854A>T p.E285V 17:7673766-7673766 3
41 COSM87912584 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.376-1G>A p.? 17:7675237-7675237 3
42 COSM105657416 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.641A>C p.H214P 17:7674890-7674890 3
43 COSM105620642 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.742C>T p.R248W 17:7674221-7674221 3
44 COSM105625281 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.782+402G>A p.? 17:7673779-7673779 3
45 COSM143945794 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.-51G>A p.? 17:7675185-7675185 3
46 COSM143971570 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.164A>C p.H55P 17:7674890-7674890 3
47 COSM122279858 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.77G>A p.R26H 17:7675139-7675139 3
48 COSM143370705 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.542A>G p.Y181C 17:7674872-7674872 3
49 COSM142837551 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.742C>T p.R248W 17:7674221-7674221 3
50 COSM144659750 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.356G>C p.R119P 17:7675139-7675139 3
Sources

Expression for Gastrointestinal Stromal Tumor

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

Pathways for Gastrointestinal Stromal Tumor

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

(show top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 14.04 VIM PRKCQ PDGFRB PDGFRA KRAS KITLG
2
ERK Signaling 63
Show member pathways
 13.79 VIM PRKCQ PDGFRB PDGFRA NTRK3 KRAS
3
GPCR Pathway 63
Show member pathways
 13.7 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KITLG
4
Activation of cAMP-Dependent PKA 63
Show member pathways
 13.55 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KITLG
5
TGF-Beta Pathway 63
Show member pathways
 13.54 PDGFRB PDGFRA NTRK3 KRAS KITLG KIT
6
Developmental Biology 65
Show member pathways
 13.5 PRKCQ PDGFRB PDGFRA KRAS KITLG KIT
7
Akt Signaling 63
Show member pathways
 13.39 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KITLG
8
Cytokine Signaling in Immune system 65
Show member pathways
 13.35 VIM PDGFRB PDGFRA KRAS KITLG KIT
9
CREB Pathway 63
Show member pathways
 13.32 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KITLG
10
PAK Pathway 63
Show member pathways
 13.3 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KITLG
11
Nanog in Mammalian ESC Pluripotency 63
Show member pathways
 13.12 VIM PRKCQ PDGFRB PDGFRA NTRK3 KRAS
12
p70S6K Signaling 63
Show member pathways
 13.03 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KITLG
13
Phospholipase-C Pathway 63
Show member pathways
 13.02 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KITLG
14
PI3K-Akt signaling pathway 36
Show member pathways
 12.99 PDGFRB PDGFRA KRAS KITLG KIT FLT3
15
Actin Nucleation by ARP-WASP Complex 63
Show member pathways
 12.94 PDGFRB PDGFRA NTRK3 KIT FLT3
16
NFAT and Cardiac Hypertrophy 63
Show member pathways
 12.87 PRKCQ PDGFRB PDGFRA NTRK3 KRAS BRAF
17
Endometrial cancer 36
Show member pathways
 12.86 PDGFRB PDGFRA KRAS KIT FLT3 BRAF
18
Development Angiotensin activation of ERK 23
Show member pathways
 12.82 PDGFRB PDGFRA KRAS KITLG KIT BRAF
19
Downstream signaling events of B Cell Receptor (BCR) 65
Show member pathways
 12.73 PDGFRB PDGFRA KRAS KITLG KIT
20
Pathways in cancer 36
12.73 PDGFRB PDGFRA KRAS KITLG KIT FLT3
21
MAPK signaling pathway 36 1
12.69 PDGFRB PDGFRA KRAS KITLG KIT FLT3
22
Glioma 36
Show member pathways
 12.68 PRKCQ PDGFRB PDGFRA KRAS BRAF
23
4-1BB Pathway 63
Show member pathways
 12.66 PRKCQ PDGFRB PDGFRA KRAS BRAF
24
ErbB signaling pathway 36 1
Show member pathways
 12.62 PDGFRB PDGFRA KRAS BRAF ABL1
25
MicroRNAs in cancer 36
12.54 VIM PDGFRB PDGFRA KRAS ABL1
26
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.46 PRKCQ PDGFRB PDGFRA NTRK3
27
Apoptosis Pathway 69
Show member pathways
 12.44 PRKCQ PDGFRB PDGFRA NTRK3 KRAS
28
Development Slit-Robo signaling 23
Show member pathways
 12.41 PRKCQ BRAF ACTC1 ABL1
29
Phospholipase D signaling pathway 36
Show member pathways
 12.4 PDGFRB PDGFRA KRAS KITLG KIT
30
Ras signaling pathway 36
Show member pathways
 12.4 PDGFRB PDGFRA KRAS KITLG KIT FLT3
31
MAPK Signaling: Mitogen Stimulation Pathway 64
Show member pathways
 12.24 PDGFRB PDGFRA NTRK3 KRAS BRAF
32
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.22 PDGFRB PDGFRA NTRK3 KRAS KITLG KIT
33
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.19 PDGFRB PDGFRA NTRK3 KRAS KITLG KIT
34
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
12 KITLG KIT FLT3 CD34
35
Glioblastoma Multiforme 63
11.97 PDGFRB PDGFRA KRAS BRAF
36
Hematopoietic cell lineage 36
11.9 KITLG KIT FLT3 CD34
37
Tyrosine Kinases / Adaptors 4
11.9 PDGFRB PDGFRA KITLG KIT FLT3 ABL1
38
Gap junction 36
11.83 PDGFRB PDGFRA KRAS
39
MAPK Signaling: Oxidative Stress Pathway 64
11.77 PRKCQ KRAS BRAF
40
C-MYB transcription factor network 1
11.77 KITLG KIT CD34
41
Dendritic Cells Developmental Lineage Pathway 64
11.74 KIT FLT3 CD34
42
G-protein signaling_RhoA regulation pathway 23
11.71 PDGFRB PDGFRA NTRK3 KRAS KITLG BRAF
43
Cardiac Progenitor Differentiation 1
11.58 PDGFRA KIT ACTC1
44
Ponatinib Pathway, Pharmacokinetics/Pharmacodynamics 60
Show member pathways
 11.55 PDGFRB PDGFRA KIT ABL1
45
Alzheimers Disease Pathway 63
11.46 PRKCQ PDGFRB PDGFRA NTRK3
46
Vemurafenib Pathway, Pharmacodynamics 60
11.43 PDGFRB PDGFRA KRAS BRAF
47
Crizotinib Pathway, Pharmacokinetics/Pharmacodynamics 60
11.41 PDGFRB KRAS BRAF
48
VEGF Pathway (Tocris) 69
Show member pathways
 11.35 PRKCQ PDGFRB KRAS KIT FLT3 BRAF
49
Pazopanib Pathway, Pharmacokinetics 60
Show member pathways
 11.29 PDGFRB PDGFRA KIT FLT3
50
G-protein signaling_K-RAS regulation pathway 23
11.22 PRKCQ KRAS BRAF
Sources

GO Terms for Gastrointestinal Stromal Tumor

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.16 VIM SDHC SDHB SDHA PRKCQ PDGFRB
2 receptor complex GO:0043235 9.35 PDGFRB PDGFRA NTRK3 KIT FLT3
3 respiratory chain complex II GO:0045273 9.16 SDHC SDHB
4 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 33)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.08 PDGFRB PDGFRA NTRK3 KRAS KITLG KIT
2 phosphorylation GO:0016310 10.08 PRKCQ PDGFRB PDGFRA NTRK3 KIT FLT3
3 positive regulation of gene expression GO:0010628 10.05 VIM NTRK3 KRAS KIT CD34 BRAF
4 protein phosphorylation GO:0006468 10.01 PRKCQ PDGFRB PDGFRA NTRK3 KIT FLT3
5 positive regulation of cell migration GO:0030335 9.96 PDGFRB PDGFRA NTRK3 KIT
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.96 PDGFRB PDGFRA NTRK3 BRAF ABL1
7 protein autophosphorylation GO:0046777 9.95 PDGFRB PDGFRA KIT FLT3 ABL1
8 positive regulation of protein kinase B signaling GO:0051897 9.93 PDGFRB PDGFRA KITLG KIT
9 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.89 PDGFRB PDGFRA NTRK3 KIT FLT3
10 cell chemotaxis GO:0060326 9.87 PRKCQ PDGFRB PDGFRA KIT
11 electron transport chain GO:0022900 9.83 SDHC SDHB SDHA
12 hemopoiesis GO:0030097 9.82 KIT FLT3 CD34
13 visual learning GO:0008542 9.78 KRAS KIT BRAF
14 tricarboxylic acid cycle GO:0006099 9.77 SDHC SDHB SDHA
15 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.77 PDGFRB PDGFRA NTRK3 KIT FLT3
16 platelet-derived growth factor receptor signaling pathway GO:0048008 9.75 PDGFRB PDGFRA ABL1
17 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.73 PDGFRB PDGFRA KIT FLT3
18 positive regulation of kinase activity GO:0033674 9.72 PDGFRB PDGFRA NTRK3 KIT FLT3
19 cardiac myofibril assembly GO:0055003 9.7 PDGFRB PDGFRA ACTC1
20 Bergmann glial cell differentiation GO:0060020 9.65 VIM ABL1
21 positive regulation of MAP kinase activity GO:0043406 9.65 PDGFRB KRAS KITLG KIT FLT3
22 retina vasculature development in camera-type eye GO:0061298 9.64 PDGFRB PDGFRA
23 alpha-beta T cell differentiation GO:0046632 9.64 BRAF ABL1
24 platelet-derived growth factor receptor-beta signaling pathway GO:0035791 9.63 PDGFRB ABL1
25 myeloid progenitor cell differentiation GO:0002318 9.63 KIT FLT3 BRAF
26 ectopic germ cell programmed cell death GO:0035234 9.62 KITLG KIT
27 succinate metabolic process GO:0006105 9.62 SDHB SDHA
28 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.61 SDHC SDHA
29 metanephric glomerular capillary formation GO:0072277 9.59 PDGFRB PDGFRA
30 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.58 PDGFRB PDGFRA
31 MAPK cascade GO:0000165 9.56 PDGFRB PDGFRA MEN1 KRAS KITLG KIT
32 positive regulation of phospholipase C activity GO:0010863 9.46 PDGFRB PDGFRA NTRK3 KIT
33 peptidyl-tyrosine phosphorylation GO:0018108 9.17 PDGFRB PDGFRA NTRK3 KIT FLT3 BRAF

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.14 PRKCQ PDGFRB PDGFRA NTRK3 KIT FLT3
2 ATP binding GO:0005524 10.02 PRKCQ PDGFRB PDGFRA NTRK3 KIT FLT3
3 nucleotide binding GO:0000166 10.02 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KIT
4 kinase activity GO:0016301 9.86 PRKCQ PDGFRB PDGFRA NTRK3 KIT FLT3
5 protein kinase activity GO:0004672 9.76 PRKCQ PDGFRB PDGFRA NTRK3 KIT FLT3
6 electron transfer activity GO:0009055 9.69 SDHC SDHB SDHA
7 growth factor binding GO:0019838 9.63 PDGFRB PDGFRA FLT3
8 platelet-derived growth factor binding GO:0048407 9.52 PDGFRB PDGFRA
9 vascular endothelial growth factor-activated receptor activity GO:0005021 9.49 PDGFRA FLT3
10 vascular endothelial growth factor binding GO:0038085 9.48 PDGFRB PDGFRA
11 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.43 SDHB SDHA
12 succinate dehydrogenase activity GO:0000104 9.4 SDHC SDHA
13 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.35 PDGFRB PDGFRA NTRK3 KIT FLT3
14 protein tyrosine kinase activity GO:0004713 9.17 PDGFRB PDGFRA NTRK3 KIT FLT3 BRAF
Sources

Sources for Gastrointestinal Stromal Tumor

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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