GIST
MCID: GST019
MIFTS: 78

Gastrointestinal Stromal Tumor (GIST)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Gastrointestinal Stromal Tumor

MalaCards integrated aliases for Gastrointestinal Stromal Tumor:

Name: Gastrointestinal Stromal Tumor 57 11 42 58 73 28 53 5 14 75
Gist 57 11 19 42 58 73
Gastrointestinal Stromal Sarcoma 19 42 58 71
Gastrointestinal Stromal Tumors 19 43 14 71
Gastrointestinal Stromal Tumor, Familial 57 28 5
Paraganglioma and Gastric Stromal Sarcoma 71
Stromal Tumour of Gastrointestinal Tract 11
Stromal Tumor of Gastrointestinal Tract 11
Gastrointestinal Stromal Neoplasm 42
Gastrointestinal Stromal Tumour 11
Plexosarcoma 71
Gant 11

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

1-5/10000 (Europe, Sweden) 58

Age Of Onset:

Adolescent,Adult,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 11 DOID:9253
OMIM® 57 606764
MeSH 43 D046152
NCIt 49 C3868
SNOMED-CT 68 1187383001
MESH via Orphanet 44 D046152
ICD10 via Orphanet 32 C26.9
UMLS via Orphanet 72 C0238198 C3179349
Orphanet 58 ORPHA44890
MedGen 40 C0238198
UMLS 71 C0238198 C1847319 C2931518 more

Summaries for Gastrointestinal Stromal Tumor

MedlinePlus Genetics: 42 A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. This type of tumor is thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. Affected individuals can develop one or more tumors. GISTs are usually found in adults between ages 40 and 70; rarely, children and young adults develop this type of tumor. Small tumors may cause no signs or symptoms. However, some people with GISTs may experience pain or swelling in the belly area (abdomen), nausea, vomiting, loss of appetite, or weight loss. Sometimes, tumors cause bleeding into the gastrointestinal tract, which may lead to low red blood cell counts (anemia) and, consequently, weakness and tiredness. Bleeding into the intestines 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 maculopapular cutaneous mastocytosis), which is characterized by raised patches of brownish skin that sting or itch when touched.A rare form of GIST, called succinate dehydrogenase (SDH)-deficient GIST, tends to occur in childhood or young adulthood and affects females more commonly than males. In this form, tumors are almost always in the stomach. Individuals with an SDH-deficient GIST have a high risk of developing other types of tumors, particularly noncancerous tumors in the nervous system called paragangliomas and noncancerous lung tumors called pulmonary chondromas. When GISTs occur in combination with paragangliomas, the condition is known as Carney-Stratakis syndrome; the combination of GISTs, paragangliomas, and pulmonary chondromas is known as Carney triad; and the combination of GISTs and pulmonary chondroma is known as incomplete Carney triad.

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 GPCR Pathway. The drugs Erlotinib and Esomeprazole have been mentioned in the context of this disorder. Affiliated tissues include small intestine, colon and smooth muscle, and related phenotypes are sarcoma and neoplasm of the stomach

GARD: 19 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 in the KIT gene, PDGFRA genes, and possibly a few other genes. Familial GIST, which usually involves more than one tumor, may follow an autosomal dominant or autosomal recessive inheritance pattern depending on the genetic variation. In very rare cases GIST may be part of a genetic syndrome, such as neurofibromatosis type 1 (NF1) and Carney triad.

Orphanet: 58 Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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: 75 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 890)
# Related Disease Score Top Affiliating Genes
1 paraganglioma and gastric stromal sarcoma 33.3 SDHC SDHB SDHA PDGFRB PDGFRA MEN1
2 carney triad 32.8 SDHC SDHB SDHA PDGFRA KIT
3 mesenchymal cell neoplasm 32.7 PDGFRB PDGFRA NTRK3 KIT CD34
4 leiomyosarcoma 32.2 VIM PDGFRB PDGFRA KIT ENO2 ACTC1
5 neurofibromatosis 32.2 SDHC SDHB PDGFRA KRAS KIT BRAF
6 leiomyoma 32.2 VIM KIT CD34 ACTC1
7 neurofibromatosis, type i 32.1 SDHC SDHB SDHA PDGFRA MEN1 KRAS
8 sarcoma 32.1 VIM PDGFRB PDGFRA KRAS KIT HOTAIR
9 neurilemmoma 32.0 VIM PDGFRB PDGFRA KIT ENO2 CD34
10 leukemia, chronic myeloid 31.9 PDGFRB PDGFRA NTRK3 KRAS KIT HOTAIR
11 paraganglioma 31.8 VIM SDHC SDHB SDHA NTRK3 MEN1
12 gastric adenocarcinoma 31.7 KRAS KIT HOTAIR BRAF
13 renal cell carcinoma, nonpapillary 31.7 VIM SDHC SDHB PDGFRB PDGFRA KRAS
14 desmoid tumor 31.7 PDGFRB PDGFRA KIT CD34 ACTC1
15 neurofibroma 31.7 VIM PDGFRB PDGFRA KIT CD34 ACTC1
16 melanoma 31.7 VIM PDGFRB PDGFRA KRAS KIT HOTAIR
17 myeloid leukemia 31.7 PDGFRB PDGFRA KIT FLT3 ABL1
18 jejunal neoplasm 31.6 PDGFRA KIT ENO2 CD34
19 pheochromocytoma 31.5 VIM SDHC SDHB SDHA PDGFRB MEN1
20 ampulla of vater benign neoplasm 31.5 KRAS ENO2
21 connective tissue benign neoplasm 31.4 PDGFRB KIT ENO2 CD34
22 malignant peripheral nerve sheath tumor 31.4 VIM PDGFRB PDGFRA KIT CD34 ACTC1
23 inherited cancer-predisposing syndrome 31.4 SDHC SDHB SDHA MEN1 KIT
24 bap1 tumor predisposition syndrome 31.4 SDHC SDHB SDHA MEN1 KIT
25 smooth muscle tumor 31.4 VIM KIT CD34 ACTC1
26 leukemia, acute myeloid 31.4 PDGFRB PDGFRA KRAS KIT HOTAIR FLT3
27 carcinoid tumors, intestinal 31.4 MEN1 ENO2
28 inflammatory myofibroblastic tumor 31.4 PDGFRB PDGFRA NTRK3 KIT CD34
29 chondroma 31.4 SDHC SDHB SDHA PDGFRA KIT ACTC1
30 mastocytosis 31.4 PDGFRB PDGFRA NTRK3 KIT FLT3
31 hemangioma 31.4 VIM MEN1 KRAS KIT ENO2 CD34
32 gastric leiomyosarcoma 31.3 SDHC SDHB SDHA PDGFRA KIT
33 leukemia 31.3 PDGFRB KIT HOTAIR FLT3 BRAF ABL1
34 angiosarcoma 31.3 VIM PDGFRB PDGFRA KRAS KIT CD34
35 glomus tumor 31.3 VIM SDHB KIT ENO2 CD34 ACTC1
36 paragangliomas 1 31.3 SDHC SDHB SDHA
37 rhabdomyosarcoma 31.3 VIM SDHC SDHA PDGFRB PDGFRA KRAS
38 somatostatinoma 31.3 MEN1 ENO2 ACTC1
39 myoma 31.3 KRAS KIT ENO2 CD34 ACTC1
40 multiple endocrine neoplasia 31.2 SDHC SDHB MEN1
41 dermatofibrosarcoma protuberans 31.2 VIM PDGFRB PDGFRA KIT CD34 ACTC1
42 lipomatosis, multiple 31.2 MEN1 KIT CD34
43 hereditary paraganglioma-pheochromocytoma syndromes 31.2 SDHC SDHB SDHA
44 ewing sarcoma 31.2 VIM PDGFRB PDGFRA KIT ETV1 ENO2
45 spindle cell sarcoma 31.2 VIM NTRK3 KIT CD34 ACTC1
46 neuroendocrine carcinoma 31.1 MEN1 KIT ENO2
47 breast cancer 31.1 VIM PRKCQ PDGFRB PDGFRA NTRK3 KRAS
48 renal cell carcinoma, papillary, 1 31.1 SDHB KRAS KIT BRAF
49 malignant fibrous histiocytoma 31.1 VIM KIT ACTC1
50 uterus leiomyosarcoma 31.1 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 30 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sarcoma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100242
2 neoplasm of the stomach 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006753
3 gastrointestinal stroma tumor 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100723
4 nausea and vomiting 58 30 Frequent (33%) Frequent (79-30%)
HP:0002017
5 dysphagia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002015
6 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
7 fatigue 58 30 Frequent (33%) Frequent (79-30%)
HP:0012378
8 gastrointestinal hemorrhage 58 30 Frequent (33%) Frequent (79-30%)
HP:0002239
9 intestinal obstruction 58 30 Frequent (33%) Frequent (79-30%)
HP:0005214
10 anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001903
11 abnormality of the liver 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001392
12 skin rash 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000988
13 neoplasm of the colon 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100273
14 neoplasm of the rectum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100743
15 esophageal neoplasm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100751
16 neoplasm of the small intestine 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100833
17 irregular hyperpigmentation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007400
18 urticaria 30 HP:0001025
19 neoplasm of the gastrointestinal tract 58 Occasional (29-5%)
20 large hands 30 HP:0001176
21 neurofibromas 30 HP:0001067
22 hyperpigmentation of the skin 30 HP:0000953

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25 (show top 50) (show all 58)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.95 BRAF KRAS
2 Decreased viability GR00055-A-2 10.95 BRAF KRAS
3 Decreased viability GR00055-A-3 10.95 KRAS
4 Decreased viability GR00106-A-0 10.95 KRAS
5 Decreased viability GR00107-A-1 10.95 PRKCQ
6 Decreased viability GR00173-A 10.95 FLT3 PDGFRA PRKCQ
7 Decreased viability GR00221-A-1 10.95 FLT3 PDGFRA PRKCQ PDGFRB ABL1 KIT
8 Decreased viability GR00221-A-2 10.95 PRKCQ NTRK3 ABL1 KRAS
9 Decreased viability GR00221-A-3 10.95 PDGFRA PRKCQ PDGFRB ABL1
10 Decreased viability GR00221-A-4 10.95 FLT3 PDGFRA PRKCQ BRAF NTRK3 PDGFRB
11 Decreased viability GR00249-S 10.95 PDGFRA BRAF
12 Decreased viability GR00301-A 10.95 BRAF KIT KRAS
13 Decreased viability GR00342-S-1 10.95 PDGFRB ABL1
14 Decreased viability GR00342-S-2 10.95 ABL1
15 Decreased viability GR00342-S-3 10.95 ABL1
16 Decreased viability GR00381-A-1 10.95 BRAF KRAS
17 Decreased viability GR00402-S-2 10.95 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:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.4 ABL1 ACTC1 BRAF CD34 FLT3 KIT
2 growth/size/body region MP:0005378 10.39 ABL1 ACTC1 BRAF ENO2 ETV1 FLT3
3 nervous system MP:0003631 10.36 ABL1 ACTC1 BRAF ENO2 ETV1 KIT
4 normal MP:0002873 10.35 ABL1 ACTC1 BRAF ETV1 KIT KRAS
5 cellular MP:0005384 10.34 ABL1 ACTC1 BRAF CD34 ENO2 ETV1
6 muscle MP:0005369 10.31 ABL1 ACTC1 BRAF ETV1 KIT KRAS
7 neoplasm MP:0002006 10.27 BRAF CD34 FLT3 KIT KRAS MEN1
8 behavior/neurological MP:0005386 10.24 ABL1 ACTC1 BRAF ENO2 ETV1 KIT
9 endocrine/exocrine gland MP:0005379 10.19 ABL1 BRAF FLT3 KIT KRAS MEN1
10 no phenotypic analysis MP:0003012 10.16 FLT3 HOTAIR KIT KRAS NTRK3 PDGFRA
11 cardiovascular system MP:0005385 10.14 ABL1 ACTC1 BRAF KIT KRAS MEN1
12 craniofacial MP:0005382 10.11 ABL1 BRAF ENO2 KIT KRAS MEN1
13 immune system MP:0005387 10.1 ABL1 BRAF CD34 FLT3 KIT KRAS
14 digestive/alimentary MP:0005381 10.08 ABL1 BRAF KIT KRAS MEN1 PDGFRA
15 respiratory system MP:0005388 9.96 ABL1 BRAF ENO2 KIT KRAS MEN1
16 skeleton MP:0005390 9.9 ABL1 BRAF FLT3 HOTAIR KIT KRAS
17 hematopoietic system MP:0005397 9.77 ABL1 ACTC1 BRAF CD34 FLT3 KIT
18 mortality/aging MP:0010768 9.53 ABL1 ACTC1 BRAF ETV1 FLT3 KIT

Drugs & Therapeutics for Gastrointestinal Stromal Tumor

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

(show top 50) (show all 189)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erlotinib Approved, Investigational Phase 4 183319-69-9, 183321-74-6 176870
2
Esomeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6, 119141-88-7 9568614 4594
3
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
4
Caffeine Approved Phase 4 58-08-2 2519
5
Lactitol Approved, Investigational Phase 4 585-86-4 157355
6 Gastrointestinal Agents Phase 4
7 Anti-Anxiety Agents Phase 4
8 Anesthetics Phase 4
9 Anti-Ulcer Agents Phase 4
10 Antacids Phase 4
11 Proton Pump Inhibitors Phase 4
12 Neurotransmitter Agents Phase 4
13 Psychotropic Drugs Phase 4
14 Anesthetics, Intravenous Phase 4
15 Anesthetics, General Phase 4
16 Hypnotics and Sedatives Phase 4
17 GABA Modulators Phase 4
18 Central Nervous System Stimulants Phase 4
19 Phosphodiesterase Inhibitors Phase 4
20
Imatinib Mesylate Phase 4 220127-57-1
21
Formaldehyde Approved, Vet_approved Phase 3 50-00-0 712
22 Orange Approved Phase 2, Phase 3
23
Bevacizumab Approved, Investigational Phase 3 216974-75-3 135329020
24
Dasatinib Approved, Investigational Phase 3 302962-49-8 3062316
25
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 3 133585-56-5, 60-18-4, 556-02-5 1153 6057
26
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 3 461-06-3
27
Crenolanib Investigational Phase 3 670220-88-9 10366136
28 Hormones Phase 3
29 Calcium, Dietary Phase 3
30 Analgesics Phase 3
31 Protein Kinase Inhibitors Phase 3
32 Tin Fluorides Phase 3
33 Immunoglobulins Phase 3
34 Antibodies, Monoclonal Phase 3
35 Antibodies Phase 3
36 Antineoplastic Agents, Immunological Phase 3
37 Immunologic Factors Phase 3
38 Immunoglobulins, Intravenous Phase 3
39 Immunoglobulin G Phase 3
40 Endothelial Growth Factors Phase 3
41
Calcium Nutraceutical Phase 3 7440-70-2 271
42
Apixaban Approved Phase 2 503612-47-3 10182969
43
Rivaroxaban Approved Phase 2 366789-02-8 9875401
44
Heparin, bovine Approved, Investigational, Withdrawn Phase 2 9005-49-6 22833565 9812414 772
45
Reviparin Approved, Investigational Phase 2 9041-08-1
46
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
47
Gemcitabine Approved Phase 2 95058-81-4, 122111-03-9 60750
48
Carboplatin Approved Phase 2 41575-94-4 10339178 38904
49
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
50
Infigratinib Approved, Investigational Phase 1, Phase 2 872511-34-7 53235510

Interventional clinical trials:

(show top 50) (show all 335)
# 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 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
3 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)
4 Post-Marketing Clinical Study of Postoperative Adjuvant Therapy With Imatinib Mesylate in Patients With Gastrointestinal Stromal Tumors (GIST) Completed NCT00171977 Phase 4 Imatinib Mesylate
5 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
6 Cytochrom p450 3A4 and 1A2 Phenotyping for the Individualization of Treatment With Sunitinib or Erlotinib in Cancer Patients Completed NCT01402089 Phase 4 Sunitinib;Erlotinib;Midazolam;Caffeine
7 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
8 Extension Protocol for Patients Previously Treated in Avapritinib Clinical Trials Active, not recruiting NCT04825574 Phase 4 Avapritinib
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 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 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
14 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
15 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)
16 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
17 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
18 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
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 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
21 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
22 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) Completed NCT03465722 Phase 3 avapritinib;regorafenib
23 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
24 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
25 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®
26 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 Completed NCT03353753 Phase 3 DCC-2618;Placebo Oral Tablet
27 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
28 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
29 An Open-label Trial of Glivec in Patients With Unresectable or Metastatic Malignant Gastrointestinal Stromal Tumors Expressing C-kit. Completed NCT00293124 Phase 3 Glivec
30 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
31 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
32 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
33 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
34 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
35 A Phase 3 Randomized, Open-Label, Multicenter Clinical Study of CGT9486+Sunitinib vs. Sunitinib in Subjects With Locally Advanced, Unresectable, or Metastatic Gastrointestinal Stromal Tumors Recruiting NCT05208047 Phase 3 CGT9486 plus sunitinib;CGT9486;Sunitinib
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 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
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 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
41 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
42 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
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 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
45 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
46 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
47 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
48 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
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 Use of a Quick Skin Sealant in Prevention of Surgical Site Infection After Laparoscopic Tumor Resection Unknown status NCT02426762 Phase 2

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 28 KIT SDHB SDHC
2 Gastrointestinal Stromal Tumor, Familial 28

Anatomical Context for Gastrointestinal Stromal Tumor

Organs/tissues related to Gastrointestinal Stromal Tumor:

MalaCards : Small Intestine, Colon, Smooth Muscle, Appendix, Skin, Lung, Liver

Publications for Gastrointestinal Stromal Tumor

Articles related to Gastrointestinal Stromal Tumor:

(show top 50) (show all 12366)
# Title Authors PMID Year
1
PDGFRA activating mutations in gastrointestinal stromal tumors. 53 62 57 5
12522257 2003
2
Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors. 53 62 57 5
11073817 2000
3
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. 62 57 5
21173220 2011
4
Gastrointestinal stromal tumors in a mouse model by targeted mutation of the Kit receptor tyrosine kinase. 62 57 5
12754375 2003
5
Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. 62 57 5
11505412 2001
6
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 62 57 5
9438854 1998
7
Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. 57 5
9697690 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. 53 62 5
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. 53 62 5
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. 53 62 5
17566086 2007
11
PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. 53 62 5
15928335 2005
12
A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors. 53 62 5
15824741 2005
13
A new mutation in the KIT ATP pocket causes acquired resistance to imatinib in a gastrointestinal stromal tumor patient. 53 62 5
15236194 2004
14
Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. 53 62 5
14645423 2003
15
Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors. 53 62 5
12949711 2003
16
Altered chromosomal topology drives oncogenic programs in SDH-deficient GISTs. 62 57
31666694 2019
17
The phenotype of SDHB germline mutation carriers: a nationwide study. 62 5
28490599 2017
18
A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro). 62 5
27771813 2017
19
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. 62 5
26173966 2016
20
Efficacy of Imatinib in Patients with Platelet-Derived Growth Factor Receptor Alpha-Mutated Gastrointestinal Stromal Tumors. 62 5
26130666 2016
21
Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum. 62 5
26259135 2015
22
Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report. 62 5
25130709 2014
23
Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST. 62 5
23612575 2014
24
Germline SDHC mutation presenting as recurrent SDH deficient GIST and renal carcinoma. 62 5
24150194 2013
25
A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis. 62 5
23598963 2013
26
BRAF mutant gastrointestinal stromal tumor: first report of regression with BRAF inhibitor dabrafenib (GSK2118436) and whole exomic sequencing for analysis of acquired resistance. 62 5
23470635 2013
27
Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. 62 5
23282968 2013
28
Outcome of patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors in the tyrosine kinase inhibitor era. 62 5
22718859 2012
29
Crenolanib inhibits the drug-resistant PDGFRA D842V mutation associated with imatinib-resistant gastrointestinal stromal tumors. 62 5
22745105 2012
30
Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. 62 5
22608338 2012
31
KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors. 62 5
22282465 2012
32
Renal tumors associated with germline SDHB mutation show distinctive morphology. 62 5
21934479 2011
33
Imatinib potentiates antitumor T cell responses in gastrointestinal stromal tumor through the inhibition of Ido. 62 57
21873989 2011
34
Alternatively spliced NKp30 isoforms affect the prognosis of gastrointestinal stromal tumors. 62 57
21552268 2011
35
SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing. 62 5
21505157 2011
36
ETV1 is a lineage survival factor that cooperates with KIT in gastrointestinal stromal tumours. 62 57
20927104 2010
37
Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl. 62 5
20418362 2010
38
V600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours. 62 5
19561230 2009
39
KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients. 62 5
19164557 2009
40
Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KIT K642E mutation. 62 5
17824795 2007
41
Familial gastrointestinal stromal tumors and germ-line mutations. 62 5
17804857 2007
42
Sorafenib inhibits the imatinib-resistant KITT670I gatekeeper mutation in gastrointestinal stromal tumor. 62 5
17699867 2007
43
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. 62 5
17259998 2007
44
Resistance to c-KIT kinase inhibitors conferred by V654A mutation. 62 5
17363509 2007
45
Ménétrier disease and gastrointestinal stromal tumors: hyperproliferative disorders of the stomach. 62 57
17200708 2007
46
Effects of PKC412, nilotinib, and imatinib against GIST-associated PDGFRA mutants with differential imatinib sensitivity. 62 5
17087936 2006
47
Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. 62 5
17087943 2006
48
Molecular correlates of imatinib resistance in gastrointestinal stromal tumors. 62 5
16954519 2006
49
Functional analyses and molecular modeling of two c-Kit mutations responsible for imatinib secondary resistance in GIST patients. 62 5
16751810 2006
50
Gastrointestinal stromal tumour in succinate dehydrogenase subunit B mutation-associated familial phaeochromocytoma/paraganglioma. 62 5
16916404 2006

Variations for Gastrointestinal Stromal Tumor

ClinVar genetic disease variations for Gastrointestinal Stromal Tumor:

5 (show top 50) (show all 5222)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDGFRA NM_006206.6(PDGFRA):c.2533_2544del (p.His845_Asn848del) DEL 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.Arg560_Val561insGluArg) INSERT Pathogenic
13547 rs587776794 GRCh37: 4:55141030-55141031
GRCh38: 4:54274863-54274864
4 PDGFRA NM_006206.6(PDGFRA):c.1679_1693del (p.Arg560_Ser564del) DEL Pathogenic
13548 rs587776795 GRCh37: 4:55141032-55141046
GRCh38: 4:54274865-54274879
5 PDGFRA NM_006206.6(PDGFRA):c.1696_1713del (p.Ser566_Glu571del) DEL Pathogenic
13549 rs606231209 GRCh37: 4:55141050-55141067
GRCh38: 4:54274883-54274900
6 KIT NM_000222.3(KIT):c.1676_1681del (p.Val559_Val560del) DEL Pathogenic
13846 rs121913685 GRCh37: 4:55593609-55593614
GRCh38: 4:54727443-54727448
7 KIT NM_000222.3(KIT):c.1652_1666del (p.Pro551_Val555del) DEL Pathogenic
13854 rs587776804 GRCh37: 4:55593584-55593598
GRCh38: 4:54727418-54727432
8 PDGFRA NM_006206.6(PDGFRA):c.2525A>T (p.Asp842Val) SNV Pathogenic
13543 rs121908585 GRCh37: 4:55152093-55152093
GRCh38: 4:54285926-54285926
9 PDGFRA NM_006206.6(PDGFRA):c.1977C>A (p.Asn659Lys) SNV Pathogenic
375901 rs1057519700 GRCh37: 4:55144148-55144148
GRCh38: 4:54277981-54277981
10 KIT NM_000222.3(KIT):c.2454del (p.Asn819fs) DEL Pathogenic
409664 rs1060502521 GRCh37: 4:55599328-55599328
GRCh38: 4:54733162-54733162
11 KIT NM_000222.3(KIT):c.108_109insT (p.Pro37fs) INSERT Pathogenic
458850 rs1553887262 GRCh37: 4:55561718-55561719
GRCh38: 4:54695552-54695553
12 PDGFRA NM_006206.6(PDGFRA):c.1977C>G (p.Asn659Lys) SNV Pathogenic
375902 rs1057519700 GRCh37: 4:55144148-55144148
GRCh38: 4:54277981-54277981
13 KIT NM_000222.3(KIT):c.389del (p.Asn130fs) DEL Pathogenic
569047 rs1560395607 GRCh37: 4:55564500-55564500
GRCh38: 4:54698334-54698334
14 KIT NM_000222.3(KIT):c.1000_1003dup (p.Val335fs) DUP Pathogenic
1368363 GRCh37: 4:55573334-55573335
GRCh38: 4:54707168-54707169
15 KIT NM_000222.3(KIT):c.568C>T (p.Gln190Ter) SNV Pathogenic
949598 rs1720236510 GRCh37: 4:55564680-55564680
GRCh38: 4:54698514-54698514
16 KIT NM_000222.3(KIT):c.2080C>T (p.Gln694Ter) SNV Pathogenic
1450203 GRCh37: 4:55595590-55595590
GRCh38: 4:54729424-54729424
17 KIT NM_000222.3(KIT):c.1126G>T (p.Glu376Ter) SNV Pathogenic
1071467 GRCh37: 4:55575600-55575600
GRCh38: 4:54709434-54709434
18 KIT NM_000222.3(KIT):c.1990+1del DEL Pathogenic
1438243 GRCh37: 4:55594287-55594287
GRCh38: 4:54728121-54728121
19 KIT NM_000222.3(KIT):c.1666C>T (p.Gln556Ter) SNV Pathogenic
1451608 GRCh37: 4:55593600-55593600
GRCh38: 4:54727434-54727434
20 KIT NM_000222.3(KIT):c.1482C>A (p.Tyr494Ter) SNV Pathogenic
1451251 GRCh37: 4:55592158-55592158
GRCh38: 4:54725992-54725992
21 KIT NM_000222.3(KIT):c.364del (p.Arg122fs) DEL Pathogenic
1405140 GRCh37: 4:55564475-55564475
GRCh38: 4:54698309-54698309
22 KIT NM_000222.3(KIT):c.120_123dup (p.Gly42fs) MICROSAT Pathogenic
1331201 GRCh37: 4:55561718-55561719
GRCh38: 4:54695552-54695553
23 KIT NM_000222.3(KIT):c.1168dup (p.Tyr390fs) DUP Pathogenic
960325 rs1721001014 GRCh37: 4:55575640-55575641
GRCh38: 4:54709474-54709475
24 KIT NM_000222.3(KIT):c.366_369del (p.Ser123fs) DEL Pathogenic
1452413 GRCh37: 4:55564478-55564481
GRCh38: 4:54698312-54698315
25 KIT NC_000004.11:g.(?_55524176)_(55604729_?)del DEL Pathogenic
583798 GRCh37: 4:55524176-55604729
GRCh38:
26 KIT NM_000222.3(KIT):c.2152_2153del (p.Ser717_Thr718insTer) DEL Pathogenic
580901 rs1560420761 GRCh37: 4:55597504-55597505
GRCh38: 4:54731338-54731339
27 KIT NM_000222.3(KIT):c.753_756del (p.Ser251fs) DEL Pathogenic
458966 rs1553887960 GRCh37: 4:55565926-55565929
GRCh38: 4:54699760-54699763
28 KIT NM_000222.3(KIT):c.1526A>T (p.Lys509Ile) SNV Pathogenic
651292 rs1577992594 GRCh37: 4:55592202-55592202
GRCh38: 4:54726036-54726036
29 SDHA NM_004168.4(SDHA):c.770G>C (p.Gly257Ala) SNV Pathogenic
1325699 GRCh37: 5:228448-228448
GRCh38: 5:228333-228333
30 overlap with 2 genes NC_000004.11:g.(?_55094349)_(55604723_?)del DEL Pathogenic
1454682 GRCh37: 4:55094349-55604723
GRCh38:
31 KIT NM_000222.3(KIT):c.1676TTG[1] (p.Val560del) MICROSAT Pathogenic
375913 rs121913685 GRCh37: 4:55593609-55593611
GRCh38: 4:54727443-54727445
32 KIT NM_000222.3(KIT):c.1676T>C (p.Val559Ala) SNV Pathogenic
Likely Pathogenic
13865 rs121913517 GRCh37: 4:55593610-55593610
GRCh38: 4:54727444-54727444
33 KIT NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) SNV Pathogenic
Pathogenic
13866 rs121913512 GRCh37: 4:55594221-55594221
GRCh38: 4:54728055-54728055
34 KIT NM_000222.3(KIT):c.1649_1663del (p.Lys550_Val555delinsIle) DEL Pathogenic
13855 GRCh37: 4:55593583-55593597
GRCh38: 4:54727417-54727431
35 KIT NM_000222.3(KIT):c.1670G>A (p.Trp557Ter) SNV Pathogenic
458885 rs1057520032 GRCh37: 4:55593604-55593604
GRCh38: 4:54727438-54727438
36 SDHC NM_003001.3(SDHC):c.406-?_*2318+?del DEL Pathogenic
239456 GRCh37:
GRCh38:
37 SDHB NM_003000.2(SDHB):c.-151_*159del DEL Pathogenic
239419 GRCh37: 1:17345217-17380665
GRCh38: 1:17018722-17054170
38 SDHB NM_003000.3(SDHB):c.271A>T (p.Arg91Ter) SNV Pathogenic
239427 rs878854575 GRCh37: 1:17359570-17359570
GRCh38: 1:17033075-17033075
39 SDHB NM_003000.3(SDHB):c.126del (p.Phe42fs) DEL Pathogenic
239421 rs878854572 GRCh37: 1:17371330-17371330
GRCh38: 1:17044835-17044835
40 SDHB NM_003000.3(SDHB):c.374C>G (p.Ser125Ter) SNV Pathogenic
412455 rs786203506 GRCh37: 1:17355144-17355144
GRCh38: 1:17028649-17028649
41 SDHB NM_003000.3(SDHB):c.602G>A (p.Trp201Ter) SNV Pathogenic
412470 rs1060503759 GRCh37: 1:17350508-17350508
GRCh38: 1:17024013-17024013
42 SDHB NM_003000.3(SDHB):c.441T>G (p.Tyr147Ter) SNV Pathogenic
412476 rs1060503763 GRCh37: 1:17354343-17354343
GRCh38: 1:17027848-17027848
43 SDHB NM_003000.3(SDHB):c.499A>T (p.Lys167Ter) SNV Pathogenic
412456 rs1060503753 GRCh37: 1:17354285-17354285
GRCh38: 1:17027790-17027790
44 SDHB NC_000001.11:g.(?_17044761)_(17044888_?)del DEL Pathogenic
417581 GRCh37: 1:17371256-17371383
GRCh38: 1:17044761-17044888
45 SDHB NM_003000.3(SDHB):c.620_621del (p.Leu207fs) DEL Pathogenic
412454 rs1060503752 GRCh37: 1:17350489-17350490
GRCh38: 1:17023994-17023995
46 SDHB NM_003000.3(SDHB):c.331_332del (p.Leu111fs) MICROSAT Pathogenic
412453 rs1060503751 GRCh37: 1:17355186-17355187
GRCh38: 1:17028691-17028692
47 SDHB NM_003000.3(SDHB):c.697A>T (p.Lys233Ter) SNV Pathogenic
468235 rs1553177285 GRCh37: 1:17349171-17349171
GRCh38: 1:17022676-17022676
48 SDHB NM_003000.3(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs) INSERT Pathogenic
468238 rs1209914140 GRCh37: 1:17349182-17349183
GRCh38: 1:17022687-17022688
49 SDHB NM_003000.3(SDHB):c.190del (p.Asp64fs) DEL Pathogenic
468233 rs1553178729 GRCh37: 1:17371266-17371266
GRCh38: 1:17044771-17044771
50 SDHC NM_003001.5(SDHC):c.215del (p.Arg72fs) DEL Pathogenic
534368 rs1553264218 GRCh37: 1:161310419-161310419
GRCh38: 1:161340629-161340629

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:

8 (show top 50) (show all 2829)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM149299330 ZFHX3 soft tissue,stomach,gastrointestinal stromal tumour,NS c.8504G>C p.C2835S 16:72794178-72794178 13
2 COSM102034982 ZFHX3 soft tissue,stomach,gastrointestinal stromal tumour,NS c.5762G>C p.C1921S 16:72794178-72794178 13
3 COSM87284592 ZFHX3 soft tissue,stomach,gastrointestinal stromal tumour,NS c.8504G>C p.C2835S 16:72794178-72794178 13
4 COSM89894337 YES1 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1105A>T p.K369* 18:739767-739767 13
5 COSM152022024 YES1 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1105A>T p.K369* 18:739767-739767 13
6 COSM136836203 YES1 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1120A>T p.K374* 18:739767-739767 13
7 COSM114698338 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1118G>A p.S373N 3:189886456-189886456 13
8 COSM98178808 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1412G>A p.S471N 3:189886456-189886456 13
9 COSM107914108 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1400G>A p.S467N 3:189886456-189886456 13
10 COSM89466891 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1130G>A p.S377N 3:189886456-189886456 13
11 COSM90500548 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1412G>A p.S471N 3:189886456-189886456 13
12 COSM113487880 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.875G>A p.S292N 3:189886456-189886456 13
13 COSM98207989 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1130G>A p.S377N 3:189886456-189886456 13
14 COSM88668675 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1412G>A p.S471N 3:189886456-189886456 13
15 COSM98192621 TP63 soft tissue,stomach,gastrointestinal stromal tumour,NS c.1130G>A p.S377N 3:189886456-189886456 13
16 COSM87906130 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.854A>T p.E285V 17:7673766-7673766 13
17 COSM144658487 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.143C>A p.P48Q 17:7676109-7676109 13
18 COSM144658591 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.730C>T p.R244C 17:7673773-7673773 13
19 COSM111771945 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.614A>T p.Y205F 17:7674917-7674917 13
20 COSM142673965 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.638T>A p.L213H 17:7674208-7674208 13
21 COSM87903333 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.646G>A p.V216M 17:7674885-7674885 13
22 COSM145029676 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.433G>A p.D145N 17:7675062-7675062 13
23 COSM145017736 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.334C>T p.P112S 17:7675161-7675161 13
24 COSM142842378 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.854A>T p.E285V 17:7673766-7673766 13
25 COSM105716168 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.727A>G p.M243V 17:7674236-7674236 13
26 COSM105627464 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.260C>A p.P87Q 17:7676109-7676109 13
27 COSM142560553 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.625C>T p.R209W 17:7674221-7674221 13
28 COSM112259828 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.260C>A p.P87Q 17:7676109-7676109 13
29 COSM121880420 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.242G>T p.R81L 17:7674893-7674893 13
30 COSM144096658 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.137A>T p.Y46F 17:7674917-7674917 13
31 COSM105632859 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.614A>T p.Y205F 17:7674917-7674917 13
32 COSM143371145 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.625C>T p.R209W 17:7674221-7674221 13
33 COSM144091751 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.377A>T p.E126V 17:7673766-7673766 13
34 COSM112259824 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.854A>T p.E285V 17:7673766-7673766 13
35 COSM121940827 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.444A>T p.R148S 17:7673780-7673780 13
36 COSM122734360 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.428G>A p.C143Y 17:7673796-7673796 13
37 COSM143370939 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.334C>T p.P112S 17:7675161-7675161 13
38 COSM143954253 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.137A>T p.Y46F 17:7674917-7674917 13
39 COSM144020017 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.260C>A p.P87Q 17:7676109-7676109 13
40 COSM144310429 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.625C>T p.R209W 17:7674221-7674221 13
41 COSM106166604 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.755T>A p.L252H 17:7674208-7674208 13
42 COSM145024713 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.143C>A p.P48Q 17:7676109-7676109 13
43 COSM111765498 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.854A>T p.E285V 17:7673766-7673766 13
44 COSM106056402 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.638G>T p.R213L 17:7674893-7674893 13
45 COSM144738082 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.610A>G p.M204V 17:7674236-7674236 13
46 COSM112256672 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.638G>T p.R213L 17:7674893-7674893 13
47 COSM122745558 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.218A>T p.Y73F 17:7674917-7674917 13
48 COSM121996201 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.359T>A p.L120H 17:7674208-7674208 13
49 COSM145123364 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.638T>A p.L213H 17:7674208-7674208 13
50 COSM144013676 TP53 soft tissue,stomach,gastrointestinal stromal tumour,NS c.709C>T p.R237W 17:7674221-7674221 13

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 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 VIM PRKCQ PDGFRB PDGFRA NTRK3 KRAS
2
Show member pathways
13.67 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KIT
3
Show member pathways
13.6 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KIT
4
Show member pathways
13.53 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KIT
5 13.51 ABL1 ACTC1 BRAF FLT3 KIT KRAS
6
Show member pathways
13.37 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KIT
7
Show member pathways
13.34 PRKCQ PDGFRB PDGFRA KRAS KIT FLT3
8
Show member pathways
13.29 FLT3 KIT KRAS NTRK3 PDGFRA PDGFRB
9
Show member pathways
13.11 VIM PRKCQ PDGFRB PDGFRA NTRK3 KRAS
10
Show member pathways
13.02 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KIT
11
Show member pathways
12.99 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KIT
12
Show member pathways
12.92 FLT3 KIT NTRK3 PDGFRA PDGFRB
13
Show member pathways
12.82 BRAF KRAS NTRK3 PDGFRA PDGFRB PRKCQ
14
Show member pathways
12.8 PDGFRB PDGFRA KRAS KIT BRAF
15 12.74 BRAF FLT3 KIT KRAS NTRK3 PDGFRA
16 12.66 PDGFRB PDGFRA KIT FLT3 ACTC1
17
Show member pathways
12.64 PRKCQ PDGFRB PDGFRA KRAS BRAF
18
Show member pathways
12.6 PDGFRB PDGFRA NTRK3 KRAS KIT ABL1
19
Show member pathways
12.44 PRKCQ PDGFRB PDGFRA NTRK3
20
Show member pathways
12.41 PDGFRB PDGFRA KRAS KIT BRAF
21
Show member pathways
12.37 PRKCQ PDGFRB PDGFRA NTRK3 KRAS
22
Show member pathways
12.3 SDHC SDHB SDHA ENO2
23
Show member pathways
12.2 PDGFRB PDGFRA NTRK3 KRAS KIT FLT3
24
Show member pathways
12.17 PDGFRB PDGFRA NTRK3 KRAS BRAF
25 12.12 BRAF KRAS PDGFRA PDGFRB
26 12.07 PDGFRB PDGFRA KRAS BRAF
27 12.06 PDGFRB PDGFRA KIT FLT3 ABL1
28 11.9 PDGFRB PDGFRA KRAS KIT FLT3 ABL1
29
Show member pathways
11.82 SDHC SDHB SDHA
30
Show member pathways
11.81 PDGFRB PDGFRA KRAS
31
Show member pathways
11.8 PDGFRB PDGFRA KIT FLT3
32 11.79 PDGFRB PDGFRA ENO2
33 11.76 PRKCQ KRAS BRAF
34 11.72 KIT FLT3 CD34
35 11.7 PDGFRB PDGFRA NTRK3 KRAS BRAF
36
Show member pathways
11.62 PDGFRB PDGFRA KIT ABL1
37 11.55 PDGFRA KIT ACTC1
38 11.41 PRKCQ PDGFRB PDGFRA NTRK3
39 11.39 PDGFRB KRAS BRAF
40 11.37 PDGFRB PDGFRA KRAS BRAF
41 11.29 PRKCQ KRAS ABL1
42 11.17 BRAF KRAS PRKCQ
43
Show member pathways
11.09 PDGFRB PDGFRA KIT FLT3
44
Show member pathways
11 PRKCQ PDGFRB KRAS KIT FLT3 BRAF
45 10.98 VIM PDGFRB PDGFRA NTRK3 KIT FLT3
46
Show member pathways
10.77 SDHC SDHB SDHA
47 10.58 KIT BRAF
48 10.56 PDGFRB PDGFRA KIT ABL1

GO Terms for Gastrointestinal Stromal Tumor

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.65 PDGFRB PDGFRA NTRK3 KIT FLT3
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.1 SDHC SDHB SDHA

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell population proliferation GO:0008284 10.37 PDGFRB PDGFRA NTRK3 KRAS KIT FLT3
2 positive regulation of gene expression GO:0010628 10.33 VIM NTRK3 KRAS KIT CD34 BRAF
3 protein autophosphorylation GO:0046777 10.27 PDGFRB PDGFRA KIT FLT3 ABL1
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.25 PDGFRB PDGFRA NTRK3 BRAF ABL1
5 protein phosphorylation GO:0006468 10.24 PRKCQ PDGFRB PDGFRA NTRK3 KIT FLT3
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 10.22 FLT3 KIT NTRK3 PDGFRA PDGFRB
7 cell chemotaxis GO:0060326 10.18 PRKCQ PDGFRB PDGFRA KIT
8 positive regulation of MAP kinase activity GO:0043406 10.16 FLT3 KIT NTRK3 PDGFRB
9 positive regulation of fibroblast proliferation GO:0048146 10.11 PDGFRB PDGFRA ABL1
10 visual learning GO:0008542 10.1 KRAS KIT BRAF
11 tricarboxylic acid cycle GO:0006099 10.09 SDHC SDHB SDHA
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 10.07 FLT3 KIT NTRK3 PDGFRA PDGFRB
13 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 10.01 PDGFRB PDGFRA KIT FLT3
14 platelet-derived growth factor receptor signaling pathway GO:0048008 10 PDGFRB PDGFRA ABL1
15 cardiac myofibril assembly GO:0055003 9.99 PDGFRB PDGFRA ACTC1
16 positive regulation of kinase activity GO:0033674 9.96 PDGFRB PDGFRA NTRK3 KIT FLT3
17 positive regulation of phospholipase C activity GO:0010863 9.95 KIT PDGFRA PDGFRB
18 platelet-derived growth factor receptor-beta signaling pathway GO:0035791 9.92 PDGFRB ABL1
19 succinate metabolic process GO:0006105 9.92 SDHA SDHB
20 myeloid progenitor cell differentiation GO:0002318 9.91 KIT FLT3 BRAF
21 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.89 PDGFRA PDGFRB
22 metanephric glomerular capillary formation GO:0072277 9.88 PDGFRA PDGFRB
23 vascular endothelial growth factor signaling pathway GO:0038084 9.84 PDGFRB PDGFRA FLT3
24 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.8 SDHC SDHB SDHA
25 positive regulation of protein modification process GO:0031401 9.63 PDGFRB KIT FLT3
26 phosphorylation GO:0016310 9.56 PRKCQ PDGFRB PDGFRA NTRK3 KIT FLT3
27 multicellular organism development GO:0007275 9.55 FLT3 KIT NTRK3 PDGFRA PDGFRB
28 peptidyl-tyrosine phosphorylation GO:0018108 9.44 PDGFRB PDGFRA NTRK3 KIT FLT3 BRAF

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.06 PRKCQ PDGFRB PDGFRA NTRK3 KIT FLT3
2 nucleotide binding GO:0000166 10.02 PRKCQ PDGFRB PDGFRA NTRK3 KRAS KIT
3 growth factor binding GO:0019838 9.95 PDGFRB PDGFRA FLT3
4 protein kinase activity GO:0004672 9.93 PRKCQ PDGFRB PDGFRA NTRK3 KIT FLT3
5 kinase activity GO:0016301 9.91 ABL1 BRAF FLT3 KIT NTRK3 PDGFRA
6 vascular endothelial growth factor receptor activity GO:0005021 9.8 PDGFRA FLT3
7 vascular endothelial growth factor binding GO:0038085 9.73 PDGFRB PDGFRA
8 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.71 SDHA SDHB
9 succinate dehydrogenase activity GO:0000104 9.67 SDHC SDHA
10 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.65 PDGFRB PDGFRA NTRK3 KIT FLT3
11 protein tyrosine kinase activity GO:0004713 9.36 PDGFRB PDGFRA NTRK3 KIT FLT3 BRAF

Sources for Gastrointestinal Stromal Tumor

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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