GIST
MCID: GST019
MIFTS: 74

Gastrointestinal Stromal Tumor (GIST)

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

Aliases & Classifications for Gastrointestinal Stromal Tumor

MalaCards integrated aliases for Gastrointestinal Stromal Tumor:

Name: Gastrointestinal Stromal Tumor 58 12 26 60 76 13 56 15
Gist 58 12 54 26 60 76 15
Gastrointestinal Stromal Sarcoma 54 26 60 74
Gastrointestinal Stromal Tumors 54 45 74
Gastrointestinal Stromal Tumor, Familial 58 6
Paraganglioma and Gastric Stromal Sarcoma 74
Gastrointestinal Stromal Tumor, Somatic 58
Stromal Tumor of Gastrointestinal Tract 12
Gastrointestinal Stromal Neoplasm 26
Plexosarcoma 74
Gant 12

Characteristics:

Orphanet epidemiological data:

60
gastrointestinal stromal tumor
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Sweden); Age of onset: Adolescent,Adult,Childhood;

OMIM:

58
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:

33
gastrointestinal stromal tumor:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Gastrointestinal Stromal Tumor

NIH Rare Diseases : 54 Gastrointestinal stromal tumors (GIST) are a type of soft tissue tumor that usually begin in specialized nerve cells in the wall of the stomach, intestines, or rectum, known as interstitial cells of Cajal. GIST may be noncancerous (benign) or cancerous (malignant). If cancerous, the tumor may also be called a soft tissue sarcoma. Symptoms depend on the location, size, and aggressiveness of the tumors, but may include vomiting of blood, bloody or tarry bowel movements, or anemia caused by  chronic bleeding. Other symptoms may include painful and swollen abdomen, appendicitis-like pain, or complications due to gastrointestinal obstruction or tumor rupture. GIST may only affect one member of a family (not inherited) or several family members (familial or inherited). The risk of GIST is increased in people who have a certain variations (mutations) in the KIT gene, PDGFRA genes, and possibly a few other genes. Disease-causing variations in these same genes are also involved in the non-inherited form of GIST, but the genetic variation occurs accidentally during a person's life time (acquired) rather than being passed down from one or both parents. Familial GIST, which usually involves more than one tumor, may follow an autosomal dominant or autosomal recessive inheritance pattern depending on the genetic variation. Treatment may include surgery to remove the tumors, and/or medication with tyrosine kinase inhibitors (TKI) depending on the extent of disease and tumor sensitivity to TKI.  In very rare cases GIST may be part of a genetic syndrome, such as Neurofibromatosis type 1 (NF1) and Carney triad. The prognosis depends on the severity, size, location of the tumor and whether the tumor is cancerous, can be removed by surgery, or if it has spread to other parts of the body (metastasized).

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

Genetics Home Reference : 26 A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. The tumors are thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. GISTs are usually found in adults between ages 40 and 70; rarely, children and young adults develop these tumors. The tumors can be cancerous (malignant) or noncancerous (benign).

OMIM : 58 Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (17,18:Miettinen et al., 1999, 1999). GISTs can also be seen in neurofibromatosis-1 (NF1; 162200) due to mutations in the NF1 gene, and are thus distinct from the GISTs described here. Sandberg and Bridge (2002) reviewed the cytogenetics and molecular genetics of gastrointestinal stromal tumors. Coffey et al. (2007) reviewed the clinical features, pathogenesis, and molecular treatments of Menetrier disease (137280) and GIST, both of which are hyperproliferative disorders of the stomach caused by dysregulated receptor tyrosine kinases. (606764)

UniProtKB/Swiss-Prot : 76 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 : 77 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 368)
# Related Disease Score Top Affiliating Genes
1 carney triad 33.3 KIT PDGFRA SDHA SDHB SDHC
2 desmoid tumor 33.2 KIT PDGFRA PDGFRB
3 neurofibromatosis, type iv, of riccardi 31.8 KIT PDGFRA SDHB SDHC
4 leiomyoma 31.4 ACTC1 DES KIT VIM
5 fibromatosis 31.3 ACTC1 DES KIT VIM
6 leiomyosarcoma 31.2 ACTC1 DES ENO2 KIT PDGFRA PDGFRB
7 adenocarcinoma 31.2 BRAF KIT KRAS PDGFRB
8 paraganglioma 31.1 ENO2 SDHA SDHB SDHC
9 neurofibroma 30.9 KIT KITLG PDGFRA
10 mastocytosis 30.9 KIT KITLG PDGFRA PDGFRB
11 hemangiopericytoma, malignant 30.9 ACTC1 DES VIM
12 neurilemmoma 30.8 DES ENO2 KIT PDGFRA VIM
13 spindle cell sarcoma 30.8 ACTC1 DES VIM
14 perivascular epithelioid cell tumor 30.8 ACTC1 DES KIT VIM
15 inflammatory myofibroblastic tumor 30.8 ACTC1 DES KIT VIM
16 malignant peripheral nerve sheath tumor 30.8 ACTC1 KIT PDGFRA VIM
17 granular cell tumor 30.8 DES ENO2 VIM
18 sarcoma, synovial 30.7 DES KIT VIM
19 glomus tumor 30.7 ACTC1 DES ENO2 SDHB VIM
20 pheochromocytoma 30.6 ENO2 MEN1 SDHA SDHB SDHC
21 dermatofibrosarcoma protuberans 30.6 ACTC1 DES KIT PDGFRA PDGFRB VIM
22 chondroma 30.6 ACTC1 SDHB SDHC
23 renal cell carcinoma, nonpapillary 30.6 FLT3 HOTAIR KIT PDGFRB SDHB VIM
24 angiosarcoma 30.6 KIT KRAS VIM
25 angiomyolipoma 30.6 ACTC1 DES KIT
26 desmoplastic small round cell tumor 30.5 DES ENO2 VIM
27 renal cell carcinoma, papillary, 1 30.5 BRAF KIT SDHB
28 systemic mastocytosis 30.5 KIT KITLG PDGFRA PDGFRB
29 sarcoma 30.4 BRAF ETV1 HOTAIR KIT KRAS VIM
30 undifferentiated pleomorphic sarcoma 30.4 KIT KRAS PDGFRA
31 rhabdomyosarcoma 30.3 ACTC1 DES ENO2 PDGFRA PDGFRB VIM
32 glomangioma 30.3 ACTC1 DES
33 amelanotic melanoma 30.3 BRAF KIT VIM
34 multiple endocrine neoplasia 30.2 MEN1 SDHB SDHC
35 ewing sarcoma 30.1 DES ENO2 ETV1 KIT KITLG PDGFRA
36 leukemia, chronic myeloid 30.1 ABL1 FLT3 HOTAIR KIT KITLG PDGFRA
37 myelodysplastic syndrome 29.9 ABL1 FLT3 KIT KITLG KRAS PDGFRB
38 myeloma, multiple 29.5 BRAF HOTAIR KIT KRAS
39 leukemia, acute myeloid 29.4 ABL1 CCDC26 FLT3 HOTAIR KIT KITLG
40 paraganglioma and gastric stromal sarcoma 12.1
41 plexosarcoma 11.5
42 ovarian fibrothecoma 10.6 ACTC1 DES KIT
43 neurofibromatosis, type i 10.6
44 angiolipoma 10.6 ACTC1 DES VIM
45 neural crest tumor 10.6 SDHA SDHB SDHC
46 lymphangiectasis 10.6 ACTC1 VIM
47 cystic nephroma 10.6 DES KIT VIM
48 infantile digital fibromatosis 10.6 DES VIM
49 spindle cell lipoma 10.6 ACTC1 DES VIM
50 parachordoma 10.6 ACTC1 DES VIM

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



Diseases related to Gastrointestinal Stromal Tumor

Symptoms & Phenotypes for Gastrointestinal Stromal Tumor

Human phenotypes related to Gastrointestinal Stromal Tumor:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sarcoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0100242
2 neoplasm of the stomach 60 33 hallmark (90%) Very frequent (99-80%) HP:0006753
3 gastrointestinal stroma tumor 60 33 hallmark (90%) Very frequent (99-80%) HP:0100723
4 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
5 nausea and vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002017
6 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
7 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
8 intestinal obstruction 60 33 frequent (33%) Frequent (79-30%) HP:0005214
9 gastrointestinal hemorrhage 60 33 frequent (33%) Frequent (79-30%) HP:0002239
10 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
11 irregular hyperpigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007400
12 skin rash 60 33 occasional (7.5%) Occasional (29-5%) HP:0000988
13 neoplasm of the colon 60 33 occasional (7.5%) Occasional (29-5%) HP:0100273
14 neoplasm of the rectum 60 33 occasional (7.5%) Occasional (29-5%) HP:0100743
15 esophageal neoplasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0100751
16 neoplasm of the small intestine 60 33 occasional (7.5%) Occasional (29-5%) HP:0100833
17 abnormality of the liver 60 33 occasional (7.5%) Occasional (29-5%) HP:0001392
18 urticaria 33 HP:0001025
19 large hands 33 HP:0001176
20 neoplasm of the gastrointestinal tract 60 Occasional (29-5%)
21 hyperpigmentation of the skin 33 HP:0000953
22 neurofibromas 33 HP:0001067

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
dysphagia
intestinal obstruction
gastrointestinal stromal tumors
pathology resembles neurofibromas
hyperplasia of the myenteric plexus
more
Skin Nails Hair Skin:
hyperpigmentation (in patients with kit mutations)
urticaria pigmentosa or cutaneous mastocytosis (in patients with kit mutations)

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

Clinical features from OMIM:

606764

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

27 (show top 50) (show all 54)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.92 BRAF KRAS
2 Decreased viability GR00106-A-0 10.92 KRAS
3 Decreased viability GR00107-A-1 10.92 PRKCQ
4 Decreased viability GR00173-A 10.92 FLT3 PDGFRA PRKCQ
5 Decreased viability GR00221-A-1 10.92 FLT3 PDGFRA PDGFRB PRKCQ ABL1 KIT
6 Decreased viability GR00221-A-2 10.92 PRKCQ ABL1 KRAS
7 Decreased viability GR00221-A-3 10.92 PDGFRA PDGFRB PRKCQ ABL1
8 Decreased viability GR00221-A-4 10.92 BRAF FLT3 PDGFRA PDGFRB PRKCQ
9 Decreased viability GR00301-A 10.92 BRAF KIT KRAS
10 Decreased viability GR00342-S-1 10.92 PDGFRB ABL1
11 Decreased viability GR00342-S-2 10.92 ABL1
12 Decreased viability GR00342-S-3 10.92 ABL1
13 Decreased viability GR00381-A-1 10.92 BRAF KRAS
14 Decreased viability GR00402-S-2 10.92 BRAF FLT3 PDGFRA PDGFRB PRKCQ ABL1
15 Decreased viability in esophageal squamous lineage GR00235-A 10 ABL1 BRAF DES FLT3 KIT KRAS
16 Decreased substrate adherent cell growth GR00193-A-1 9.97 KIT
17 Decreased substrate adherent cell growth GR00193-A-2 9.97 ABL1 KIT
18 Decreased substrate adherent cell growth GR00193-A-3 9.97 BRAF
19 Decreased substrate adherent cell growth GR00193-A-4 9.97 ABL1 BRAF FLT3 KIT
20 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.95 VIM
21 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.95 ETV1 KRAS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.95 BRAF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.95 MEN1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.95 KRAS
25 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.95 MEN1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.95 ETV1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.95 MEN1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.95 VIM
29 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.95 BRAF
30 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.95 BRAF
31 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.95 KRAS
32 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.95 VIM
33 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.95 BRAF ETV1 KRAS MEN1 VIM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.95 VIM
35 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.95 VIM
36 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.95 BRAF
37 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.95 KRAS
38 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.95 KRAS
39 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.95 KRAS
40 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.95 BRAF VIM
41 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.95 VIM
42 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.95 BRAF
43 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.95 BRAF
44 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.95 MEN1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.95 BRAF MEN1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.95 KRAS MEN1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.95 KRAS
48 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.95 KRAS VIM
49 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.95 MEN1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.95 VIM

MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor:

47 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.46 ABL1 ACTC1 BRAF DES ENO2 ETV1
2 homeostasis/metabolism MP:0005376 10.41 ABL1 ACTC1 BRAF DES FLT3 KIT
3 mortality/aging MP:0010768 10.41 ABL1 ACTC1 BRAF DES ETV1 FLT3
4 cardiovascular system MP:0005385 10.37 ABL1 ACTC1 BRAF DES KIT KITLG
5 growth/size/body region MP:0005378 10.35 ABL1 ACTC1 BRAF ENO2 ETV1 FLT3
6 hematopoietic system MP:0005397 10.3 ABL1 BRAF FLT3 KIT KITLG KRAS
7 endocrine/exocrine gland MP:0005379 10.29 ABL1 BRAF FLT3 KIT KITLG KRAS
8 immune system MP:0005387 10.24 ABL1 BRAF FLT3 KIT KITLG KRAS
9 craniofacial MP:0005382 10.23 ABL1 BRAF ENO2 KIT KITLG KRAS
10 muscle MP:0005369 10.23 ABL1 ACTC1 BRAF DES ETV1 KIT
11 digestive/alimentary MP:0005381 10.22 ABL1 BRAF KIT KITLG KRAS MEN1
12 embryo MP:0005380 10.21 ABL1 BRAF KIT KITLG KRAS MEN1
13 nervous system MP:0003631 10.18 ABL1 BRAF ENO2 ETV1 KIT KITLG
14 neoplasm MP:0002006 10.09 BRAF FLT3 KIT KITLG KRAS MEN1
15 normal MP:0002873 10.02 ABL1 ACTC1 BRAF ETV1 KIT KRAS
16 reproductive system MP:0005389 9.91 BRAF KIT KITLG KRAS MEN1 PDGFRA
17 pigmentation MP:0001186 9.8 BRAF KIT KITLG KRAS PDGFRA PRKCQ
18 respiratory system MP:0005388 9.76 ABL1 BRAF ENO2 KIT KRAS PDGFRA
19 skeleton MP:0005390 9.61 ABL1 BRAF FLT3 KIT KITLG KRAS
20 vision/eye MP:0005391 9.23 ABL1 BRAF KIT KITLG KRAS PDGFRB

Drugs & Therapeutics for Gastrointestinal Stromal Tumor

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

(show top 50) (show all 180)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxaliplatin Approved, Investigational Phase 4,Phase 1 61825-94-3 6857599 5310940 9887054 43805
2
Sunitinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 557795-19-4, 341031-54-7 5329102
3
Everolimus Approved Phase 4,Phase 1,Phase 2 159351-69-6 6442177 70789204
4
Sirolimus Approved, Investigational Phase 4,Phase 1,Phase 2 53123-88-9 46835353 6436030 5284616
5
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
6
Caffeine Approved Phase 4 58-08-2 2519
7
Midazolam Approved, Illicit Phase 4,Phase 1 59467-70-8 4192
8 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Cola Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Imatinib Mesylate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 220127-57-1 123596
13 Protein Kinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Anesthetics Phase 4,Phase 3,Phase 1,Not Applicable
15 Immunologic Factors Phase 4,Phase 3,Phase 1,Phase 2
16 Immunosuppressive Agents Phase 4,Phase 1,Phase 2
17 Anti-Ulcer Agents Phase 4
18 Antacids Phase 4
19 Gastrointestinal Agents Phase 4,Phase 2
20 Proton Pump Inhibitors Phase 4
21 Central Nervous System Stimulants Phase 4
22 GABA Agents Phase 4,Phase 1
23 Hypnotics and Sedatives Phase 4,Phase 1
24 Pharmaceutical Solutions Phase 4,Phase 3
25 Tranquilizing Agents Phase 4,Phase 1
26 Anesthetics, General Phase 4,Phase 3,Phase 1
27 Phosphodiesterase Inhibitors Phase 4
28 Anti-Anxiety Agents Phase 4,Phase 1
29 Adjuvants, Anesthesia Phase 4,Phase 3,Phase 1
30 GABA Modulators Phase 4,Phase 1
31 Psychotropic Drugs Phase 4,Phase 1
32 Anesthetics, Intravenous Phase 4,Phase 3,Phase 1
33 Neurotransmitter Agents Phase 4,Phase 1
34
Erlotinib Hydrochloride Phase 4,Phase 1 183319-69-9 176871
35 Central Nervous System Depressants Phase 4,Phase 3,Phase 1
36 Purinergic P1 Receptor Antagonists Phase 4
37
Formaldehyde Approved, Vet_approved Phase 3 50-00-0 712
38
Bevacizumab Approved, Investigational Phase 3,Phase 2,Phase 1 216974-75-3
39
Dasatinib Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 302962-49-8 3062316
40 Orange Approved Phase 2, Phase 3
41
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
42
Calcium Approved, Nutraceutical Phase 3,Phase 1 7440-70-2 271
43
Lactitol Investigational Phase 2, Phase 3 585-86-4, 585-88-6 493591
44
Crenolanib Investigational Phase 3,Phase 2 670220-88-9 10366136
45 Pancreatic Polypeptide Investigational Phase 3,Phase 1 59763-91-6
46 tyrosine Phase 3,Phase 2,Phase 1,Not Applicable
47 Antineoplastic Agents, Immunological Phase 3,Phase 2,Phase 1
48 Endothelial Growth Factors Phase 3,Phase 2
49 Antibodies Phase 3,Phase 2,Phase 1
50 Mitogens Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 288)
# Name Status NCT ID Phase Drugs
1 Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors Unknown status NCT00777504 Phase 4 usage oral angiogenesis inhibitor;stop oral angiogenesis inhibitor
2 Relationship Between Platinum Levels in the Blood and Neurotoxicity in Patients Who Are Receiving Oxaliplatin for Gastrointestinal Cancer Unknown status NCT00274885 Phase 4 oxaliplatin
3 Treatment of Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumors in First Line With Nilotinib Recruiting NCT00756509 Phase 4 Nilotinib
4 Safety And Efficacy Study Of Sunitinib Malate In Chinese Patients With Imatinib Resistant Or Intolerant Malignant Gastrointestinal Stromal Tumor Completed NCT00793871 Phase 4 Sunitinib Malate (SU011248)
5 Post-Marketing Clinical Study of Postoperative Adjuvant Therapy With Imatinib Mesylate in Patients With Gastrointestinal Stromal Tumors (GIST) Completed NCT00171977 Phase 4 Imatinib Mesylate
6 Treatment of Patients With Everolimus and Imatinib Mesylate Who Have Progressive Gastro Intestinal Stromal Tumors (GIST) and Are Resistant to Imatinib Mesylate Completed NCT00510354 Phase 4 Imatinib mesylate
7 The Effects of the Proton Pump Inhibitor Esomeprazole on the Bioavailability of Regorafenib Completed NCT02800330 Phase 4 Esomeprazole 40mg concomitantly;Esomeprazole 40mg before;Regorafenib 160mg or 120mg
8 Cytochrom p450 3A4 and 1A2 Phenotyping for the Individualization of Treatment With Sunitinib or Erlotinib in Cancer Patients Completed NCT01402089 Phase 4 Sunitinib;Erlotinib;Midazolam;Caffeine
9 Imatinib Mesylate in Treating Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumor Unknown status NCT00685828 Phase 3 imatinib mesylate
10 EUS-FNB vs. Single-incision Needle-knife (SINK) Biopsy for Gastrointestinal SELs Unknown status NCT02866045 Phase 3
11 Imatinib Mesylate With or Without Surgery in Treating Patients With Metastatic Gastrointestinal Stromal Tumor That is Responding to Imatinib Mesylate Terminated NCT00956072 Phase 3 imatinib mesylate
12 Efficacy of Imatinib in Patients With Intermediate-risk Gastrointestinal Stromal Tumor With a High-risk Genomic Grade Index Not yet recruiting NCT02576080 Phase 3 Imatinib
13 Imatinib Mesylate or Observation Only in Treating Patients Who Have Undergone Surgery for Localized Gastrointestinal Stromal Tumor Completed NCT00103168 Phase 3 imatinib mesylate
14 Masitinib in Patients With Gastrointestinal Stromal Tumour After Progression With Imatinib Active, not recruiting NCT01694277 Phase 3 Masitinib;Sunitinib
15 Masitinib in First Line Treatment of Gastro-Intestinal Stromal Tumor (GIST) Terminated NCT00812240 Phase 3 Masitinib;Imatinib
16 Efficacy of Nilotinib in Adult Patients With Gastrointestinal Stromal Tumors Resistant to Imatinib and Sunitinib. Completed NCT01289028 Phase 3 Nilotinib
17 Study of Regorafenib as a 3rd-line or Beyond Treatment for Gastrointestinal Stromal Tumors (GIST) Active, not recruiting NCT01271712 Phase 3 Regorafenib (Stivarga, BAY73-4506);Placebo;Best supportive care
18 Imatinib Mesylate With or Without Bevacizumab in Treating Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumor Terminated NCT00324987 Phase 3 Imatinib Mesylate
19 Open-label Trial of GlivecWith Unresectable or Metastatic Malignant Gastrointestinal Stromal Tumors Completed NCT00293124 Phase 3 Glivec
20 Safety And Effectiveness Of Daily Dosing With Sunitinib Or Imatinib In Patients With Gastrointestinal Stromal Tumors Terminated NCT00372567 Phase 3 sunitinib malate;imatinib mesylate
21 Comparison of Two Different Doses of STI571 in Treating Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumor Terminated NCT00009906 Phase 3 Imatinib Mesylate
22 Imatinib Mesylate in Treating Patients With Primary Gastrointestinal Stromal Tumor That Has Been Completely Removed By Surgery Completed NCT00041197 Phase 3 imatinib mesylate
23 A Study To Assess The Safety And Efficacy Of SU11248 In Patients With Gastrointestinal Stromal Tumor(GIST) Completed NCT00075218 Phase 3 Placebo;SU011248
24 Comparative Bioequivalence Study in Adult Patients Suffering From Chronic Myeloid Leukemia & Gastrointestinal Stromal Tumor Under Fed Conditions Completed NCT02103322 Phase 2, Phase 3 Imatinib Mesylate Tablets, 400 mg;Imatinib Mesylate Tablets, 400 mg
25 L-carnitine vs Placebo for the Treatment of Muscle Cramps After Imatinib in Gastrointestinal Stromal Tumors Recruiting NCT03426722 Phase 3 L-carnitine;Placebo
26 Detection of CF-DNA in Patients With Gastrointestinal Stromal Tumors (GIST) Completed NCT01462994 Phase 3
27 Nilotinib 800 Mg And Imatinib 800 Mg For The Treatment Of Patients With Gastrointestinal Stromal Tumors (Gist) Refractory To Imatinib 400 Mg Terminated NCT00751036 Phase 3 Nilotinib;Imatinib
28 Masitinib in Patients With Localized, Primary GIST After Complete Surgery and With High Risk of Recurrence Terminated NCT02009423 Phase 3 Masitinib;Placebo
29 Efficacy and Safety of Nilotinib (AMN107) Compared With Current Treatment Options in Patients With GIST Who Have Failed Both Imatinib and Sunitinib Completed NCT00471328 Phase 3 Nilotinib
30 Rechallenge of Imatinib in GIST Having no Effective Treatment Completed NCT01151852 Phase 3 Imatinib;Placebo
31 A Study of Nilotinib Versus Imatinib in GIST Patients Completed NCT00785785 Phase 3 Nilotinib (AMN107);imatinib (STI571)
32 Efficiency of Imatinib Treatment Maintenance or Interruption After 3 Years of Adjuvant Treatment in Patients With Gastrointestinal Stromal Tumours (GIST) Recruiting NCT02260505 Phase 3 Imatinib maintenance
33 Study of Dose Escalation Versus no Dose Escalation of Imatinib in Metastatic Gastrointestinal Stromal Tumors (GIST) Patients Terminated NCT01031628 Phase 3 Imatinib mesylate;Imatinib mesylate;Imatinib mesylate
34 A Study of DCC-2618 vs Sunitinib in Advanced GIST Patients After Treatment With Imatinib Recruiting NCT03673501 Phase 3 DCC-2618;Sunitinib
35 Phase 3 Study of DCC-2618 vs Placebo in Advanced GIST Patients Who Have Been Treated With Prior Anticancer Therapies Active, not recruiting NCT03353753 Phase 3 DCC-2618;Placebo Oral Tablet
36 Prospective Multicentric Randomized Study of Glivec® in Advanced GIST Expressing C-kit: Interruption After 5 Years vs Maintenance Completed NCT00367861 Phase 3 interruption of Glivec®
37 Study Evaluating IPI-504 in Patients With Gastrointestinal Stromal Tumors (GIST) Following Failure of at Least Imatinib and Sunitinib Terminated NCT00688766 Phase 3 retaspimycin hydrochloride (IPI-504);placebo
38 Study Comparing 12 Months Versus 36 Months of Imatinib in the Treatment of Gastrointestinal Stromal Tumor (GIST) Completed NCT00116935 Phase 3 imatinib mesylate;imatinib;imatinib
39 Caphosol in Oral Mucositis Due to Targeted Therapy Completed NCT01265810 Phase 3
40 (VOYAGER) Study of Avapritinib vs Regorafenib in Patients With Locally Advanced Unresectable or Metastatic GIST Recruiting NCT03465722 Phase 3 avapritinib;regorafenib
41 Randomized Trial of Crenolanib in Subjects With D842V Mutated GIST Recruiting NCT02847429 Phase 3 Crenolanib;Placebo
42 Three Versus Five Years of Adjuvant Imatinib as Treatment of Patients With Operable GIST Recruiting NCT02413736 Phase 3 Imatinib
43 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
44 Safety and Efficacy of OP2000 (Deligoparin) in the Treatment of Active Ulcerative Colitis Completed NCT00033943 Phase 2, Phase 3 deligoparin
45 Gleevec Administered Preoperatively to Reduce Gastrointestinal Stromal Tumor (GIST) Unknown status NCT00290485 Phase 2 Imatinib mesylate
46 MITIGATE-NeoBOM: A Study to Evaluate 68Ga- NeoBOMB1 in Patients With Advanced TKI-treated GIST Using PET/CT Unknown status NCT02931929 Phase 1, Phase 2 68Ga-NeoBOMB1, 2-vial kit
47 Ph II of Capecitabine, Carboplatin & Bevacizumab for Gastroesophageal Junction & Gastric Carcinoma Unknown status NCT00780494 Phase 2 bevacizumab;carboplatin;capecitabine
48 Salvage Therapy With Sunitinib,Docetaxel and Platinum on Metastatic or Unresectable Non Small Cell Lung Cancer Unknown status NCT01019798 Phase 2 sunitinib, docetaxel, cisplatin
49 Patients With Refractory, Metastatic Cancer Harboring KIT Mutation or Amplification to Investigate the Clinical Efficacy and Safety of Imatinib Therapy Unknown status NCT02461849 Phase 2 Imatinib
50 Docetaxel With or Without Low-dose, Short Course Sunitinib in Refractory Solid Tumors Unknown status NCT01803503 Phase 2 Docetaxel;Sunitinib

Search NIH Clinical Center for Gastrointestinal Stromal Tumor

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: gastrointestinal stromal tumors

Genetic Tests for Gastrointestinal Stromal Tumor

Anatomical Context for Gastrointestinal Stromal Tumor

MalaCards organs/tissues related to Gastrointestinal Stromal Tumor:

42
Liver, Small Intestine, Colon, Lung, Pancreas, Smooth Muscle, Prostate

Publications for Gastrointestinal Stromal Tumor

Articles related to Gastrointestinal Stromal Tumor:

(show top 50) (show all 2681)
# Title Authors Year
1
Acromegaly associated with GIST, non-small cell lung cancer, clear cell renal cancer, myeloma multiplex, medulla oblongata tumor, adrenal adenoma and follicular thyroid nodules. ( 30742299 )
2019
2
Synchronous gallbladder adenocarcinoma and gastric gastrointestinal stromal tumor: Case report and literature review. ( 30818158 )
2019
3
Signs of enhanced formation of gist memory in children with autism spectrum disorder - a study of memory functions of sleep. ( 30908649 )
2019
4
Management of low rectal gastrointestinal stromal tumor with neoadjuvant therapy and transanal excision: a rare case report and review of the literature. ( 30881087 )
2019
5
Circulating cKIT and PDGFRA DNA indicates Disease Activity in Gastrointestinal Stromal Tumor (GIST). ( 30882891 )
2019
6
EUS Guided Diagnosis of Pericardial GIST - First case in the literature (with video). ( 30883911 )
2019
7
Transperineal Excision of Rectal Gastrointestinal Stromal Tumor. ( 30888676 )
2019
8
Metastatic pattern and prognosis of gastrointestinal stromal tumor (GIST): a SEER-based analysis. ( 30905025 )
2019
9
Mutational testing in gastrointestinal stromal tumor. ( 30914028 )
2019
10
Clinicopathological Features and Prognosis of Gastrointestinal Stromal Tumor Located in the Jejunum and Ileum. ( 29698938 )
2019
11
Invited Response Letter to the Letter "Our Experience Regarding the Association between Gastrointestinal Stromal Tumor and Bariatric Surgery. A Response to a Letter "Gastrointestinal Stromal Tumor After Laparoscopic Sleeve Gastrectomy: Be Awake Before, During, and After a Bariatric Procedure". ( 30547279 )
2019
12
Neferine inhibits growth and migration of gastrointestinal stromal tumor cell line GIST-T1 by up-regulation of miR-449a. ( 30551450 )
2019
13
Our Experience Regarding the Association Between Gastrointestinal Stromal Tumor and Bariatric Surgery: a Response to a Letter "Gastrointestinal Stromal Tumor After Laparoscopic Sleeve Gastrectomy: Be Awake Before, During, and After a Bariatric Procedure". ( 30554306 )
2019
14
Invited Response Letter: Our Experience Regarding the Association Between Gastrointestinal Stromal Tumor and Bariatric Surgery. A Response to a Letter "Gastrointestinal Stromal Tumor After Laparoscopic Sleeve Gastrectomy: Be Awake Before, During, and After a Bariatric Procedure". ( 30560313 )
2019
15
Effects of CO2 pneumoperitoneum on proliferation, apoptosis, and migration of gastrointestinal stromal tumor cells. ( 30604263 )
2019
16
Therapeutic Challenges in the Management of Bleeding Duodenal Gastrointestinal Stromal Tumor: a Case Report and Review of Literature. ( 30628032 )
2019
17
Enhancer Domains in Gastrointestinal Stromal Tumor Regulate KIT Expression and are Targetable by BET Bromodomain Inhibition. ( 30630822 )
2019
18
Mid-gastrointestinal bleeding secondary to a gastrointestinal stromal tumor of the jejunum: A case report. ( 30635134 )
2019
19
Complete response to sunitinib for more than three years in a patient with a jejunum gastrointestinal stromal tumor: A case report. ( 30653116 )
2019
20
Diagnosis and Treatment Monitoring of a Patient with Gastrointestinal Stromal Tumor by Next-Generation Sequencing and Droplet Digital Polymerase Chain Reaction Assay of a PDGFRA Mutation in Plasma-Derived Cell-Free Tumor DNA. ( 30670599 )
2019
21
Gastrointestinal Stromal Tumor. ( 30711139 )
2019
22
Long-term adjuvant imatinib treatment for a patient who underwent complete resection of a localized recurrent gastrointestinal stromal tumor after preoperative imatinib treatment: A case report. ( 30732216 )
2019
23
Gastrointestinal stromal tumor leading to acute abdomen and hypovolemic shock in a trauma patient. ( 30742293 )
2019
24
Differential immune profiles distinguish the mutational subtypes of gastrointestinal stromal tumor. ( 30762585 )
2019
25
Incidental Finding of Gastrointestinal Stromal Tumor in the Appendix. ( 30762616 )
2019
26
Extra-gastrointestinal stromal tumor with a large cyst. ( 30788092 )
2019
27
Gastrointestinal stromal tumor of the lesser omentum: a case report and review of the literature. ( 30792845 )
2019
28
Proteomic maps of human gastrointestinal stromal tumor subgroups. ( 30804049 )
2019
29
32PClinical correlation between different CKIT exon mutations and clinical outcome imatinib mesylate treatment in gastrointestinal stromal tumor (GIST) patients. ( 30810175 )
2019
30
Gastric Plexiform Fibromyxoma: A Great Mimic of Gastrointestinal Stromal Tumor (GIST) and Diagnostic Pitfalls. ( 30822694 )
2019
31
Relative Factors Analysis of Imatinib Trough Concentration in Chinese Patients with Gastrointestinal Stromal Tumor. ( 30836365 )
2019
32
Laparoendoscopic Transgastric Resection of Prepyloric Gastrointestinal Stromal Tumor. ( 30848716 )
2019
33
Surgery for duodenal gastrointestinal stromal tumor: A systematic review and meta-analysis of pancreaticoduodenectomy versus local resection. ( 30853211 )
2019
34
A Rare Case of Gastrointestinal Stromal Tumor with a Liver Metastasis Infiltrating the Inferior Vena Cava and Extending to the Right Atrium with an Early Recurrence after Surgical Extraction. ( 30867967 )
2019
35
Defining Tumor Rupture in Gastrointestinal Stromal Tumor. ( 30868512 )
2019
36
Intracellular concentration and transporters in imatinib resistance of gastrointestinal stromal tumor. ( 30879345 )
2019
37
Discovered on gastrointestinal stromal tumor 1, a keystone in the diagnosis of extraintestinal gastrointestinal stromal tumors. ( 30880769 )
2019
38
Preoperative assessment of malignant potential of gastrointestinal stromal tumor by dual-time-point 18F-fluorodeoxyglucose positron emission tomography imaging: Usefulness of standardized uptake value and retention index. ( 30880770 )
2019
39
Cost-utility analysis of adjuvant imatinib treatment in patients with high risk of recurrence after gastrointestinal stromal tumour (GIST) resection in Thailand. ( 30636935 )
2019
40
Contextualizing numeric clinical test results for gist comprehension: Implications for EHR patient portals. ( 30688498 )
2019
41
PRE-OPERATIVE GASTRIC GIST DOWNSIZING: THE IMPORTANCE OF NEOADJUVANT THERAPY. ( 30758475 )
2019
42
Molecular modelling evaluation of exon 18 His845_Asn848delinsPro PDGFRα mutation in a metastatic GIST patient responding to imatinib. ( 30778083 )
2019
43
Perforated small bowel GIST in an immunocompromised male. ( 30787963 )
2019
44
Secondary KIT mutations: the GIST of drug resistance and sensitivity. ( 30792534 )
2019
45
Directed forgetting for categorised pictures: recognition memory for perceptual details versus gist. ( 30849286 )
2019
46
Malignancies associated with GIST: a retrospective study with molecular analysis of KIT and PDGFRA. ( 30877378 )
2019
47
Gain of FGF4 is a frequent event in KIT/PDGFRA/SDH/RAS-P WT GIST. ( 30887595 )
2019
48
Raining Frogs, Flying Horses, and Defining Tumor Rupture in GIST. ( 30903324 )
2019
49
Associative strength or gist extraction: Which matters when DRM lists have two critical lures? ( 29431007 )
2019
50
Metastatic Cutaneous Duodenal Gastrointestinal Stromal Tumor: A Possible Clue to Multiple Metastases. ( 29853751 )
2018

Variations for Gastrointestinal Stromal Tumor

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

76
# Symbol AA change Variation ID SNP ID
1 KIT p.Lys550Ile VAR_033123
2 KIT p.Val559Ala VAR_033126 rs121913517
3 KIT p.Val559Asp VAR_033127 rs121913517
4 PDGFRA p.Tyr849Cys VAR_066474

ClinVar genetic disease variations for Gastrointestinal Stromal Tumor:

6 (show top 50) (show all 3419)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC19A1 NM_194255.2(SLC19A1): c.80A> G (p.His27Arg) single nucleotide variant Uncertain significance rs1051266 GRCh38 Chromosome 21, 45537880: 45537880
2 SLC19A1 NM_194255.2(SLC19A1): c.80A> G (p.His27Arg) single nucleotide variant Uncertain significance rs1051266 GRCh37 Chromosome 21, 46957794: 46957794
3 FOLR1 NM_016724.2(FOLR1): c.-75+161G> A single nucleotide variant Uncertain significance rs2071010 GRCh38 Chromosome 11, 72189920: 72189920
4 FOLR1 NM_016724.2(FOLR1): c.-75+161G> A single nucleotide variant Uncertain significance rs2071010 GRCh37 Chromosome 11, 71900964: 71900964
5 DHFR NM_000791.3(DHFR): c.86+59_86+60insACCTGGGCGGGACGCGCCA insertion Uncertain significance rs70991108 GRCh38 Chromosome 5, 80654344: 80654345
6 DHFR NM_000791.3(DHFR): c.86+59_86+60insACCTGGGCGGGACGCGCCA insertion Uncertain significance rs70991108 GRCh37 Chromosome 5, 79950163: 79950164
7 TYMS; TYMSOS NC_000018.10 short repeat Uncertain significance GRCh38 Chromosome 18, 657646: 657673
8 SHMT1 NM_004169.4(SHMT1): c.1420C> T (p.Leu474Phe) single nucleotide variant Uncertain significance rs1979277 GRCh38 Chromosome 17, 18328782: 18328782
9 SHMT1 NM_004169.4(SHMT1): c.1420C> T (p.Leu474Phe) single nucleotide variant Uncertain significance rs1979277 GRCh37 Chromosome 17, 18232096: 18232096
10 SDHC NM_001035511.1(SDHC): c.8C> T (p.Ala3Val) single nucleotide variant Uncertain significance rs142139022 GRCh37 Chromosome 1, 161284203: 161284203
11 SDHC NM_001035511.1(SDHC): c.8C> T (p.Ala3Val) single nucleotide variant Uncertain significance rs142139022 GRCh38 Chromosome 1, 161314413: 161314413
12 SDHB NM_003000.2(SDHB): c.79C> G (p.Arg27Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs74315369 GRCh37 Chromosome 1, 17371377: 17371377
13 SDHB NM_003000.2(SDHB): c.79C> G (p.Arg27Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs74315369 GRCh38 Chromosome 1, 17044882: 17044882
14 KIT NM_000222.2(KIT): c.532G> A (p.Ala178Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115585711 GRCh37 Chromosome 4, 55564644: 55564644
15 KIT NM_000222.2(KIT): c.532G> A (p.Ala178Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115585711 GRCh38 Chromosome 4, 54698478: 54698478
16 KIT NM_000222.2(KIT): c.952A> G (p.Met318Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143388949 GRCh37 Chromosome 4, 55573290: 55573290
17 KIT NM_000222.2(KIT): c.952A> G (p.Met318Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143388949 GRCh38 Chromosome 4, 54707124: 54707124
18 SDHC NM_003001.3(SDHC): c.354T> C (p.Phe118=) single nucleotide variant Benign/Likely benign rs61733156 GRCh37 Chromosome 1, 161326579: 161326579
19 SDHC NM_003001.3(SDHC): c.354T> C (p.Phe118=) single nucleotide variant Benign/Likely benign rs61733156 GRCh38 Chromosome 1, 161356789: 161356789
20 SDHB NM_003000.2(SDHB): c.300T> C (p.Ser100=) single nucleotide variant Benign/Likely benign rs11541235 GRCh37 Chromosome 1, 17355218: 17355218
21 SDHB NM_003000.2(SDHB): c.300T> C (p.Ser100=) single nucleotide variant Benign/Likely benign rs11541235 GRCh38 Chromosome 1, 17028723: 17028723
22 SDHB NM_003000.2(SDHB): c.260T> C (p.Leu87Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs727504457 GRCh37 Chromosome 1, 17359581: 17359581
23 SDHB NM_003000.2(SDHB): c.260T> C (p.Leu87Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs727504457 GRCh38 Chromosome 1, 17033086: 17033086
24 SDHC NM_003001.3(SDHC): c.15G> T (p.Leu5Phe) single nucleotide variant Uncertain significance rs771746264 GRCh37 Chromosome 1, 161284210: 161284210
25 SDHC NM_003001.3(SDHC): c.15G> T (p.Leu5Phe) single nucleotide variant Uncertain significance rs771746264 GRCh38 Chromosome 1, 161314420: 161314420
26 SDHC NM_003001.3(SDHC): c.32G> T (p.Arg11Leu) single nucleotide variant Uncertain significance rs767802663 GRCh37 Chromosome 1, 161293415: 161293415
27 SDHC NM_003001.3(SDHC): c.32G> T (p.Arg11Leu) single nucleotide variant Uncertain significance rs767802663 GRCh38 Chromosome 1, 161323625: 161323625
28 SDHC NM_003001.3(SDHC): c.380A> G (p.His127Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs786203457 GRCh37 Chromosome 1, 161326605: 161326605
29 SDHC NM_003001.3(SDHC): c.380A> G (p.His127Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs786203457 GRCh38 Chromosome 1, 161356815: 161356815
30 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 GRCh38 Chromosome 1, 161356832: 161356832
31 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 GRCh37 Chromosome 1, 161326622: 161326622
32 SDHC NM_003001.3(SDHC): c.402C> T (p.His134=) single nucleotide variant Likely benign rs754213041 GRCh37 Chromosome 1, 161326627: 161326627
33 SDHC NM_003001.3(SDHC): c.402C> T (p.His134=) single nucleotide variant Likely benign rs754213041 GRCh38 Chromosome 1, 161356837: 161356837
34 SDHC NM_003001.3(SDHC): c.490A> T (p.Met164Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200375156 GRCh38 Chromosome 1, 161362413: 161362413
35 SDHC NM_003001.3(SDHC): c.490A> T (p.Met164Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200375156 GRCh37 Chromosome 1, 161332203: 161332203
36 SDHB NM_003000.2(SDHB): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs786203251 GRCh37 Chromosome 1, 17349144: 17349144
37 SDHB NM_003000.2(SDHB): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs786203251 GRCh38 Chromosome 1, 17022649: 17022649
38 SDHB NM_003000.2(SDHB): c.689G> T (p.Arg230Leu) single nucleotide variant Pathogenic/Likely pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179
39 SDHB NM_003000.2(SDHB): c.689G> T (p.Arg230Leu) single nucleotide variant Pathogenic/Likely pathogenic rs587782604 GRCh38 Chromosome 1, 17022684: 17022684
40 SDHB NM_003000.2(SDHB): c.688C> T (p.Arg230Cys) single nucleotide variant Pathogenic rs138996609 GRCh37 Chromosome 1, 17349180: 17349180
41 SDHB NM_003000.2(SDHB): c.688C> T (p.Arg230Cys) single nucleotide variant Pathogenic rs138996609 GRCh38 Chromosome 1, 17022685: 17022685
42 SDHB NM_003000.2(SDHB): c.649C> T (p.Arg217Cys) single nucleotide variant Likely pathogenic rs200245469 GRCh38 Chromosome 1, 17022724: 17022724
43 SDHB NM_003000.2(SDHB): c.649C> T (p.Arg217Cys) single nucleotide variant Likely pathogenic rs200245469 GRCh37 Chromosome 1, 17349219: 17349219
44 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh38 Chromosome 1, 17024015: 17024015
45 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
46 SDHB NM_003000.2(SDHB): c.423C> T (p.Pro141=) single nucleotide variant Conflicting interpretations of pathogenicity rs150542357 GRCh37 Chromosome 1, 17355095: 17355095
47 SDHB NM_003000.2(SDHB): c.423C> T (p.Pro141=) single nucleotide variant Conflicting interpretations of pathogenicity rs150542357 GRCh38 Chromosome 1, 17028600: 17028600
48 SDHB NM_003000.2(SDHB): c.380T> G (p.Ile127Ser) single nucleotide variant Pathogenic/Likely pathogenic rs786201095 GRCh38 Chromosome 1, 17028643: 17028643
49 SDHB NM_003000.2(SDHB): c.380T> G (p.Ile127Ser) single nucleotide variant Pathogenic/Likely pathogenic rs786201095 GRCh37 Chromosome 1, 17355138: 17355138
50 SDHB NM_003000.2(SDHB): c.286+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs786201063 GRCh38 Chromosome 1, 17033059: 17033059

Cosmic variations for Gastrointestinal Stromal Tumor:

9 (show top 50) (show all 717)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6987318 ZFHX3 soft tissue,smooth muscle,leiomyosarcoma,NS c.2513A>G p.N838S 16:72957633-72957633 0
2 COSM212945 XPO1 soft tissue,smooth muscle,leiomyosarcoma,NS c.782G>A p.R261Q 2:61496985-61496985 0
3 COSM7340875 TSC2 soft tissue,gastrointestinal tract (site indeterminate),gastrointestinal stromal tumour,spindle and epithelioid c.1040A>G p.K347R 16:2060734-2060734 0
4 COSM6986268 TSC1 soft tissue,smooth muscle,leiomyosarcoma,NS c.1079C>A p.T360N 9:132911064-132911064 0
5 COSM10648 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.524G>A p.R175H 17:7675088-7675088 0
6 COSM43878 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.427G>A p.V143M 17:7675185-7675185 0
7 COSM10758 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.659A>G p.Y220C 17:7674872-7674872 0
8 COSM10704 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.844C>T p.R282W 17:7673776-7673776 0
9 COSM44327 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.518T>C p.V173A 17:7675094-7675094 0
10 COSM43615 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.473G>C p.R158P 17:7675139-7675139 0
11 COSM307332 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.976G>A p.E326K 17:7673552-7673552 0
12 COSM44057 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.517G>C p.V173L 17:7675095-7675095 0
13 COSM1640842 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.641A>C p.H214P 17:7674890-7674890 0
14 COSM10790 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.455C>T p.P152L 17:7675157-7675157 0
15 COSM11224 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.394A>C p.K132Q 17:7675218-7675218 0
16 COSM43632 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.493C>T p.Q165* 17:7675119-7675119 0
17 COSM10705 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.586C>T p.R196* 17:7674945-7674945 0
18 COSM10662 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.743G>A p.R248Q 17:7674220-7674220 0
19 COSM44238 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.631A>G p.T211A 17:7674900-7674900 0
20 COSM10735 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.638G>A p.R213Q 17:7674893-7674893 0
21 COSM10667 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.646G>A p.V216M 17:7674885-7674885 0
22 COSM44610 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.97-2A>T p.? 17:7676274-7676274 0
23 COSM43700 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.712T>A p.C238S 17:7674251-7674251 0
24 COSM43965 TP53 soft tissue,smooth muscle,leiomyoma,NS c.734G>C p.G245A 17:7674229-7674229 0
25 COSM43949 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.401T>G p.F134C 17:7675211-7675211 0
26 COSM43753 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.560-1G>A p.? 17:7674972-7674972 0
27 COSM45135 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.673-1G>T p.? 17:7674291-7674291 0
28 COSM13745 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.994-1G>C p.? 17:7670716-7670716 0
29 COSM10656 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.742C>T p.R248W 17:7674221-7674221 0
30 COSM11476 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.452C>A p.P151H 17:7675160-7675160 0
31 COSM44537 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.595G>T p.G199* 17:7674936-7674936 0
32 COSM10690 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.473G>A p.R158H 17:7675139-7675139 0
33 COSM11073 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.1024C>T p.R342* 17:7670685-7670685 0
34 COSM10905 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.451C>T p.P151S 17:7675161-7675161 0
35 COSM10663 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.916C>T p.R306* 17:7673704-7673704 0
36 COSM10768 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.535C>T p.H179Y 17:7675077-7675077 0
37 COSM43989 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.596G>A p.G199E 17:7674935-7674935 0
38 COSM44415 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.711G>C p.M237I 17:7674252-7674252 0
39 COSM21585 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.376-2A>T p.? 17:7675238-7675238 0
40 COSM10654 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.637C>T p.R213* 17:7674894-7674894 0
41 COSM10788 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.764T>G p.I255S 17:7674199-7674199 0
42 COSM10726 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.856G>A p.E286K 17:7673764-7673764 0
43 COSM43778 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.713G>T p.C238F 17:7674250-7674250 0
44 COSM44956 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.808T>G p.F270V 17:7673812-7673812 0
45 COSM11658 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.955A>T p.K319* 17:7673573-7673573 0
46 COSM44960 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.708C>G p.Y236* 17:7674255-7674255 0
47 COSM3849376 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.753C>G p.I251M 17:7674210-7674210 0
48 COSM44567 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.647T>C p.V216A 17:7674884-7674884 0
49 COSM43596 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.841G>A p.D281N 17:7673779-7673779 0
50 COSM44076 TP53 soft tissue,smooth muscle,leiomyosarcoma,NS c.655C>T p.P219S 17:7674876-7674876 0

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 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 ABL1 BRAF DES FLT3 KIT KITLG
2
Show member pathways
13.53 BRAF FLT3 KIT KITLG KRAS PDGFRA
3
Show member pathways
13.46 ABL1 BRAF KIT KITLG KRAS PDGFRA
4
Show member pathways
13.37 ETV1 FLT3 KIT KITLG KRAS PDGFRA
5
Show member pathways
13.32 BRAF FLT3 KIT KITLG KRAS PDGFRA
6
Show member pathways
13.29 FLT3 KIT KITLG KRAS PDGFRA PDGFRB
7
Show member pathways
13.16 BRAF FLT3 KIT KITLG KRAS PDGFRA
8
Show member pathways
13.01 KIT KITLG KRAS PDGFRA PDGFRB PRKCQ
9
Show member pathways
13 BRAF KIT KITLG KRAS PDGFRA PDGFRB
10
Show member pathways
12.95 FLT3 KIT KITLG KRAS PDGFRA PDGFRB
11
Show member pathways
12.84 BRAF KIT KITLG KRAS PDGFRA PDGFRB
12
Show member pathways
12.83 BRAF KRAS PDGFRA PDGFRB PRKCQ
13
Show member pathways
12.78 ABL1 BRAF FLT3 KIT KRAS PDGFRA
14
Show member pathways
12.69 KIT KITLG KRAS PDGFRA PDGFRB
15
Show member pathways
12.66 BRAF KRAS PDGFRA PDGFRB PRKCQ
16 12.65 ABL1 BRAF FLT3 KIT KITLG KRAS
17
Show member pathways
12.64 BRAF KRAS PDGFRA PDGFRB PRKCQ
18 12.62 BRAF FLT3 KIT KITLG KRAS PDGFRA
19 12.48 ABL1 KRAS PDGFRA PDGFRB VIM
20
Show member pathways
12.4 KRAS PDGFRA PDGFRB PRKCQ
21
Show member pathways
12.34 KIT KITLG KRAS PDGFRA PDGFRB
22
Show member pathways
12.28 ENO2 SDHA SDHB SDHC
23
Show member pathways
12.27 BRAF FLT3 KIT KITLG KRAS PDGFRA
24
Show member pathways
12.2 ABL1 KIT KITLG KRAS PDGFRA PDGFRB
25
Show member pathways
12.2 ABL1 BRAF FLT3 KIT KITLG KRAS
26
Show member pathways
12.16 BRAF KRAS PDGFRA PDGFRB
27 11.94 BRAF KRAS PDGFRA PDGFRB
28
Show member pathways
11.87 ENO2 SDHA SDHB SDHC
29 11.85 FLT3 KIT KITLG
30 11.8 ABL1 FLT3 KIT KITLG PDGFRA PDGFRB
31 11.71 BRAF KITLG KRAS PDGFRA PDGFRB
32
Show member pathways
11.71 ABL1 KIT PDGFRA PDGFRB
33 11.7 ACTC1 DES VIM
34 11.53 ACTC1 KIT PDGFRA
35 11.47 FLT3 KIT KRAS PDGFRA PDGFRB
36 11.46 PDGFRA PDGFRB PRKCQ
37 11.36 BRAF KRAS PDGFRA PDGFRB PRKCQ
38 11.3 BRAF KRAS PDGFRA PDGFRB
39 11.27 ABL1 KRAS PRKCQ
40 11.18 BRAF KRAS PRKCQ
41
Show member pathways
11.02 BRAF FLT3 KIT KRAS PDGFRB PRKCQ
42 10.92 DES FLT3 KIT KITLG PDGFRA PDGFRB
43 10.83 PDGFRA PDGFRB

GO Terms for Gastrointestinal Stromal Tumor

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.46 FLT3 KIT PDGFRA PDGFRB
2 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
3 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHA SDHB SDHC
4 membrane GO:0016020 10.2 ABL1 ACTC1 BRAF DES ENO2 FLT3
5 cytoplasm GO:0005737 10.1 ABL1 ACTC1 BRAF DES ENO2 FLT3

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.93 KIT KITLG PDGFRA PDGFRB
2 cell differentiation GO:0030154 9.92 ABL1 BRAF ETV1 FLT3
3 positive regulation of MAPK cascade GO:0043410 9.91 FLT3 KIT PDGFRA PDGFRB
4 phosphatidylinositol phosphorylation GO:0046854 9.86 KIT KITLG PDGFRA PDGFRB
5 electron transport chain GO:0022900 9.85 SDHA SDHB SDHC
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.85 FLT3 KIT PDGFRA PDGFRB
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.85 ABL1 BRAF FLT3 KIT PDGFRA PDGFRB
8 cell chemotaxis GO:0060326 9.84 KIT PDGFRA PDGFRB PRKCQ
9 protein autophosphorylation GO:0046777 9.83 ABL1 FLT3 KIT PDGFRA PDGFRB
10 visual learning GO:0008542 9.8 BRAF KIT KRAS
11 muscle filament sliding GO:0030049 9.79 ACTC1 DES VIM
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.78 FLT3 KIT PDGFRA PDGFRB
13 negative regulation of apoptotic process GO:0043066 9.76 ACTC1 BRAF KITLG PDGFRB
14 tricarboxylic acid cycle GO:0006099 9.75 SDHA SDHB SDHC
15 platelet-derived growth factor receptor signaling pathway GO:0048008 9.74 ABL1 PDGFRA PDGFRB
16 cardiac myofibril assembly GO:0055003 9.69 ACTC1 PDGFRA PDGFRB
17 regulation of T cell differentiation GO:0045580 9.67 ABL1 BRAF
18 succinate metabolic process GO:0006105 9.66 SDHA SDHB
19 Bergmann glial cell differentiation GO:0060020 9.66 ABL1 VIM
20 retina vasculature development in camera-type eye GO:0061298 9.65 PDGFRA PDGFRB
21 alpha-beta T cell differentiation GO:0046632 9.65 ABL1 BRAF
22 ectopic germ cell programmed cell death GO:0035234 9.64 KIT KITLG
23 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.64 SDHA SDHC
24 peptidyl-tyrosine phosphorylation GO:0018108 9.63 ABL1 BRAF FLT3 KIT PDGFRA PDGFRB
25 platelet-derived growth factor receptor-beta signaling pathway GO:0035791 9.62 ABL1 PDGFRB
26 metanephric glomerular capillary formation GO:0072277 9.59 PDGFRA PDGFRB
27 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.58 PDGFRA PDGFRB
28 positive regulation of phospholipase C activity GO:0010863 9.58 KIT PDGFRA PDGFRB
29 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.56 FLT3 KIT PDGFRA PDGFRB
30 myeloid progenitor cell differentiation GO:0002318 9.5 BRAF FLT3 KIT
31 positive regulation of MAP kinase activity GO:0043406 9.35 FLT3 KIT KITLG KRAS PDGFRB
32 MAPK cascade GO:0000165 9.23 BRAF FLT3 KIT KITLG KRAS MEN1
33 positive regulation of cell proliferation GO:0008284 10.08 FLT3 KIT KITLG KRAS PDGFRA PDGFRB
34 phosphorylation GO:0016310 10.07 ABL1 BRAF FLT3 KIT PDGFRA PDGFRB
35 positive regulation of gene expression GO:0010628 10.05 ACTC1 BRAF KIT KRAS VIM
36 protein phosphorylation GO:0006468 10.04 ABL1 BRAF FLT3 KIT PDGFRA PDGFRB

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.95 ABL1 BRAF FLT3 KIT PDGFRA PDGFRB
2 nucleotide binding GO:0000166 9.91 BRAF FLT3 KIT KRAS PDGFRA PDGFRB
3 protein kinase activity GO:0004672 9.87 ABL1 BRAF FLT3 KIT PDGFRA PDGFRB
4 electron transfer activity GO:0009055 9.71 SDHA SDHB SDHC
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.67 KIT KITLG PDGFRA PDGFRB
6 platelet-derived growth factor receptor binding GO:0005161 9.56 PDGFRA PDGFRB
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.56 FLT3 KIT PDGFRA PDGFRB
8 platelet-derived growth factor binding GO:0048407 9.55 PDGFRA PDGFRB
9 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.55 FLT3 KIT KITLG PDGFRA PDGFRB
10 vascular endothelial growth factor-activated receptor activity GO:0005021 9.49 FLT3 PDGFRA
11 vascular endothelial growth factor binding GO:0038085 9.46 PDGFRA PDGFRB
12 ubiquinone binding GO:0048039 9.22 SDHB
13 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.13 SDHA SDHB SDHC
14 protein tyrosine kinase activity GO:0004713 9.1 ABL1 BRAF FLT3 KIT PDGFRA PDGFRB
15 protein binding GO:0005515 10.44 ABL1 BRAF DES ENO2 ETV1 FLT3
16 ATP binding GO:0005524 10.08 ABL1 ACTC1 BRAF FLT3 KIT PDGFRA

Sources for Gastrointestinal Stromal Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....