MCID: GST019
MIFTS: 74

Gastrointestinal Stromal Tumor

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

Aliases & Classifications for Gastrointestinal Stromal Tumor

MalaCards integrated aliases for Gastrointestinal Stromal Tumor:

Name: Gastrointestinal Stromal Tumor 53 12 24 55 71 28 13 51 14
Gist 53 12 49 24 55 71
Gastrointestinal Stromal Sarcoma 49 24 55 69
Gastrointestinal Stromal Tumors 49 41 69
Paraganglioma and Gastric Stromal Sarcoma 69
Gastrointestinal Stromal Tumor, Familial 53
Gastrointestinal Stromal Tumor, Somatic 53
Stromal Tumor of Gastrointestinal Tract 12
Gastrointestinal Stromal Neoplasm 24
Plexosarcoma 69
Gant 12

Characteristics:

Orphanet epidemiological data:

55
gastrointestinal stromal tumor
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Sweden); Age of onset: Adolescent,Adult,Childhood;

OMIM:

53
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
tumors usually develop between 40 and 60 years of age
both germline (familial) and somatic (sporadic) mutation in kit and pdgfra have been found


HPO:

31
gastrointestinal stromal tumor:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Gastrointestinal Stromal Tumor

NIH Rare Diseases : 49 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). Last updated: 12/29/2017

MalaCards based summary : Gastrointestinal Stromal Tumor, also known as gist, is related to paraganglioma and gastric stromal sarcoma and desmoid tumor, and has symptoms including constipation, fatigue and nausea and vomiting. 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 Akt Signaling. The drugs Gleevec and Stivarga have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and endothelial, and related phenotypes are Decreased viability and Decreased viability

Genetics Home Reference : 24 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 : 53 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 : 71 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 : 72 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 340)
# Related Disease Score Top Affiliating Genes
1 paraganglioma and gastric stromal sarcoma 34.0 SDHB SDHC SDHD
2 desmoid tumor 33.1 KIT PDGFRA PDGFRB
3 carney triad 32.8 KIT PDGFRA SDHA SDHB SDHC SDHD
4 neurofibromatosis, type iv, of riccardi 31.4 KIT PDGFRA S100B SDHB SDHC SDHD
5 fibromatosis 31.2 ACTC1 DES KIT VIM
6 leiomyoma 31.2 ACTC1 CD34 DES
7 paraganglioma 30.8 ENO2 SDHA SDHB SDHC SDHD
8 hemangiopericytoma, malignant 30.8 ACTC1 DES S100B VIM
9 perivascular epithelioid cell tumor 30.7 ACTC1 DES KIT VIM
10 neurofibroma 30.7 KIT KITLG PDGFRA S100B
11 sarcoma, synovial 30.7 DES KIT VIM
12 pheochromocytoma 30.6 ENO2 SDHA SDHB SDHC SDHD
13 granular cell tumor 30.6 DES ENO2 S100B VIM
14 leiomyosarcoma 30.6 ACTC1 DES ENO2 KIT PDGFRA PDGFRB
15 perineurioma 30.6 KIT S100B VIM
16 chondroma 30.5 ACTC1 SDHB SDHC SDHD
17 smooth muscle tumor 30.5 ACTC1 DES KIT VIM
18 malignant peripheral nerve sheath tumor 30.4 ACTC1 CD34 KIT PDGFRA S100B VIM
19 glomus tumor 30.4 ACTC1 DES ENO2 SDHB SDHD VIM
20 inflammatory myofibroblastic tumor 30.3 ACTC1 DES KIT S100B VIM
21 meningioma, familial 30.2 CD34 PDGFRB S100B VIM
22 desmoplastic small round cell tumor 30.2 ACTC1 DES ENO2 S100B VIM
23 glomangioma 30.2 ACTC1 CD34 DES ENO2 VIM
24 dermatofibrosarcoma protuberans 30.2 ACTC1 CD34 DES PDGFRA PDGFRB S100B
25 renal cell carcinoma, nonpapillary 29.9 ENO2 FLT3 KIT PDGFRB SDHB SDHC
26 nondisjunction 29.9 KIT MTHFR
27 leukemia, acute myeloid 29.8 ABL1 CD34 FLT3 KIT KITLG
28 leukemia, chronic myeloid 29.6 ABL1 CD34 FLT3 KIT KITLG PDGFRA
29 ewing sarcoma 29.4 CD34 DES ENO2 ETV1 KIT KITLG
30 myelodysplastic syndrome 29.3 ABL1 CD34 FLT3 KIT KITLG PDGFRB
31 gallbladder leiomyoma 10.8 CD34 KIT
32 lung leiomyosarcoma 10.8 CD34 KIT
33 skin glomus tumor 10.8 DES VIM
34 lymphangiectasis 10.7 ACTC1 VIM
35 infantile digital fibromatosis 10.7 DES VIM
36 reticular perineurioma 10.7 KIT PDGFRA S100B
37 paragangliomas 1 10.7 SDHB SDHC SDHD
38 liver leiomyoma 10.7 CD34 KIT
39 ovarian fibrothecoma 10.7 ACTC1 DES KIT
40 adrenal medulla cancer 10.7 SDHB SDHC SDHD
41 extra-adrenal pheochromocytoma 10.7 SDHB SDHC SDHD
42 sporadic pheochromocytoma 10.7 SDHB SDHC SDHD
43 primary hypereosinophilic syndrome 10.7 PDGFRA PDGFRB
44 hydromyelia 10.7 S100B VIM
45 lymphangiomatosis 10.7 DES VIM
46 cystic nephroma 10.7 ACTC1 DES KIT
47 gallbladder sarcoma 10.7 CD34 DES KIT
48 angiolipoma 10.7 ACTC1 DES VIM
49 cutaneous leiomyosarcoma 10.7 ACTC1 DES VIM
50 deep leiomyoma 10.7 CD34 KIT

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



Diseases related to Gastrointestinal Stromal Tumor

Symptoms & Phenotypes for Gastrointestinal Stromal Tumor

Symptoms via clinical synopsis from OMIM:

53
AbdomenGastrointestinal:
dysphagia
intestinal obstruction
gastrointestinal stromal tumors
pathology resembles neurofibromas
hyperplasia of the myenteric plexus
more
SkinNailsHairSkin:
hyperpigmentation (in patients with kit mutations)
urticaria pigmentosa or cutaneous mastocytosis (in patients with kit mutations)

SkeletalHands:
large hands (in patients with pdgfra mutations)


Clinical features from OMIM:

606764

Human phenotypes related to Gastrointestinal Stromal Tumor:

55 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
2 fatigue 55 31 frequent (33%) Frequent (79-30%) HP:0012378
3 nausea and vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002017
4 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
5 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
6 intestinal obstruction 55 31 frequent (33%) Frequent (79-30%) HP:0005214
7 irregular hyperpigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007400
8 sarcoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0100242
9 gastrointestinal hemorrhage 55 31 frequent (33%) Frequent (79-30%) HP:0002239
10 skin rash 55 31 occasional (7.5%) Occasional (29-5%) HP:0000988
11 neoplasm of the colon 55 31 occasional (7.5%) Occasional (29-5%) HP:0100273
12 neoplasm of the rectum 55 31 occasional (7.5%) Occasional (29-5%) HP:0100743
13 esophageal neoplasm 55 31 occasional (7.5%) Occasional (29-5%) HP:0100751
14 neoplasm of the small intestine 55 31 occasional (7.5%) Occasional (29-5%) HP:0100833
15 abnormality of the liver 55 31 occasional (7.5%) Occasional (29-5%) HP:0001392
16 neoplasm of the stomach 55 31 hallmark (90%) Very frequent (99-80%) HP:0006753
17 gastrointestinal stroma tumor 55 31 hallmark (90%) Very frequent (99-80%) HP:0100723
18 urticaria 31 HP:0001025
19 large hands 31 HP:0001176
20 neoplasm of the gastrointestinal tract 55 Occasional (29-5%)
21 hyperpigmentation of the skin 31 HP:0000953
22 neurofibromas 31 HP:0001067

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

25 (show all 45)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.77 PRKCQ
2 Decreased viability GR00173-A 10.77 FLT3 PRKCQ PDGFRA
3 Decreased viability GR00221-A-1 10.77 ABL1 FLT3 KIT PRKCQ PDGFRA PDGFRB
4 Decreased viability GR00221-A-2 10.77 ABL1 PRKCQ NTRK3 SDHD
5 Decreased viability GR00221-A-3 10.77 ABL1 PRKCQ PDGFRA PDGFRB
6 Decreased viability GR00221-A-4 10.77 FLT3 PRKCQ PDGFRA PDGFRB NTRK3 SDHD
7 Decreased viability GR00301-A 10.77 KIT
8 Decreased viability GR00342-S-1 10.77 ABL1 PDGFRB
9 Decreased viability GR00342-S-2 10.77 ABL1
10 Decreased viability GR00342-S-3 10.77 ABL1
11 Decreased viability GR00381-A-1 10.77 SDHD
12 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.24 ABL1 PRKCQ S100B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.24 KIT
14 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.24 ABL1 VIM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.24 ABL1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.24 NTRK3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.24 NTRK3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.24 VIM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.24 ABL1 PRKCQ
20 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.24 KIT NTRK3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.24 ABL1 KIT
22 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.24 PRKCQ
23 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.24 KIT
24 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.24 VIM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.24 VIM
26 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.24 VIM
27 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.24 VIM
28 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.24 VIM
29 Increased shRNA abundance (Z-score > 2) GR00366-A-3 10.24 ABL1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.24 KIT ABL1 NTRK3 VIM
31 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.24 NTRK3
32 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.24 KIT NTRK3
33 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.24 ABL1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.24 ABL1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.24 VIM S100B
36 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.24 PRKCQ
37 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.24 ABL1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.24 ABL1 KIT NTRK3 VIM PRKCQ S100B
39 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.24 KIT PRKCQ
40 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.24 KIT
41 Decreased substrate adherent cell growth GR00193-A-1 9.8 KIT
42 Decreased substrate adherent cell growth GR00193-A-2 9.8 ABL1 KIT
43 Decreased substrate adherent cell growth GR00193-A-4 9.8 ABL1 FLT3 KIT
44 Increased cell viability after pRB stimulation GR00230-A-1 9.46 KIT ABL1 PDGFRB PRKCQ
45 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 9.13 KIT FLT3 PRKCQ

MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.36 CD34 KIT DES ENO2 ABL1 ETV1
2 homeostasis/metabolism MP:0005376 10.36 KIT DES ABL1 FLT3 ACTC1 CD34
3 mortality/aging MP:0010768 10.33 KIT DES ABL1 ETV1 FLT3 ACTC1
4 cardiovascular system MP:0005385 10.3 KIT DES ABL1 ACTC1 NTRK3 PDGFRA
5 growth/size/body region MP:0005378 10.29 ENO2 ABL1 ETV1 FLT3 ACTC1 PDGFRB
6 behavior/neurological MP:0005386 10.28 DES ENO2 ABL1 ETV1 PDGFRB NTRK3
7 hematopoietic system MP:0005397 10.23 CD34 KIT ABL1 FLT3 PDGFRB PDGFRA
8 endocrine/exocrine gland MP:0005379 10.15 ABL1 FLT3 PDGFRB KIT PDGFRA KITLG
9 nervous system MP:0003631 10.03 ENO2 ABL1 ETV1 PDGFRB NTRK3 KIT
10 muscle MP:0005369 10.02 KIT DES ABL1 ETV1 ACTC1 PDGFRA
11 neoplasm MP:0002006 9.92 CD34 KIT FLT3 PDGFRA KITLG SDHD
12 no phenotypic analysis MP:0003012 9.7 FLT3 MTHFR NTRK3 KIT PDGFRA SDHB
13 normal MP:0002873 9.65 KIT ABL1 ETV1 ACTC1 NTRK3 PDGFRA
14 vision/eye MP:0005391 9.23 ABL1 MTHFR PDGFRB NTRK3 KIT KITLG

Drugs & Therapeutics for Gastrointestinal Stromal Tumor

FDA approved drugs:

# Drug Name Active Ingredient(s) 17 Company Approval Date
1
Gleevec 17 45 IMATINIB MESYLATE Novartis May 2001
2
Stivarga 17 45 REGORAFENIB Bayer/ Bayer HealthCare Pharmaceuticals February 2013/ September 2012
3
Sutent 17 45 SUNITINIB MALATE Pfizer May 2011/ January 2006
4
Votrient 17 45 PAZOPANIB HYDROCHLORIDE GlaxoSmithKline April 2012/ October of 2009

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

(show top 50) (show all 168)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxaliplatin Approved, Investigational Phase 4,Phase 1 61825-94-3 43805 6857599 5310940 9887054
2
Sunitinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
3
Everolimus Approved Phase 4,Phase 1,Phase 2 159351-69-6 6442177
4
Sirolimus Approved, Investigational Phase 4,Phase 1,Phase 2 53123-88-9 46835353 6436030 5284616
5
Midazolam Approved, Illicit Phase 4,Phase 1 59467-70-8 4192
6
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 9579578 4594
7
Caffeine Approved, Nutraceutical Phase 4 58-08-2 2519
8 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
9 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1
11 Imatinib Mesylate Phase 4,Phase 3,Phase 2,Phase 1 123596
12 Protein Kinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
13 Anesthetics Phase 4,Phase 3,Phase 1
14 Immunosuppressive Agents Phase 4,Phase 1,Phase 2
15 Adjuvants, Anesthesia Phase 4,Phase 3,Phase 1
16 Anesthetics, General Phase 4,Phase 3,Phase 1
17 Anesthetics, Intravenous Phase 4,Phase 3,Phase 1
18 Anti-Anxiety Agents Phase 4,Phase 1
19 Central Nervous System Depressants Phase 4,Phase 3,Phase 1
20 Central Nervous System Stimulants Phase 4
21
Erlotinib Hydrochloride Phase 4,Phase 1 183319-69-9 176871
22 GABA Agents Phase 4,Phase 1
23 GABA Modulators Phase 4,Phase 1
24 Hypnotics and Sedatives Phase 4,Phase 1
25 Neurotransmitter Agents Phase 4,Phase 1
26 Pharmaceutical Solutions Phase 4,Phase 3
27 Phosphodiesterase Inhibitors Phase 4
28 Psychotropic Drugs Phase 4,Phase 1
29 Purinergic P1 Receptor Antagonists Phase 4
30 Tranquilizing Agents Phase 4,Phase 1
31 Gastrointestinal Agents Phase 4,Phase 2
32 Antacids Phase 4
33 Anti-Ulcer Agents Phase 4
34 Proton pump inhibitors Phase 4
35 Cola Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
36
Bevacizumab Approved, Investigational Phase 3,Phase 2,Phase 1 216974-75-3
37
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
38
Dasatinib Approved, Investigational Phase 3,Phase 2,Phase 1 302962-49-8 3062316
39
Formaldehyde Approved, Vet_approved Phase 3 50-00-0 712
40
Menthol Approved Phase 3 2216-51-5 16666
41 Orange Approved, Nutraceutical Phase 2, Phase 3
42
Lactitol Investigational Phase 2, Phase 3 585-86-4 3871
43 Pancreatic Polypeptide Investigational Phase 3,Phase 1 59763-91-6
44
Crenolanib Investigational Phase 3,Phase 2 670220-88-9 10366136
45 Analgesics Phase 3
46 Bone Density Conservation Agents Phase 3
47 Calcium, Dietary Phase 3,Phase 1
48 Analgesics, Opioid Phase 3
49 Narcotics Phase 3
50 Peripheral Nervous System Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 263)

# 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 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)
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 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
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 The Effects of the Proton Pump Inhibitor Esomeprazole on the Bioavailability of Regorafenib Recruiting NCT02800330 Phase 4 Esomeprazole 40mg concomitantly;Esomeprazole 40mg before;Regorafenib 160mg or 120mg
8 Treatment of Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumors in First Line With Nilotinib Active, not recruiting NCT00756509 Phase 4 Nilotinib
9 Post Marketing Surveillance On The Safety And Tolerability Of Sunitinib Malate (Sutent) For Filipino Patients Terminated NCT01073644 Phase 4 Sunitinib malate
10 Imatinib Mesylate in Treating Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumor Unknown status NCT00685828 Phase 3 imatinib mesylate
11 Imatinib Mesylate or Observation Only in Treating Patients Who Have Undergone Surgery for Localized Gastrointestinal Stromal Tumor Unknown status NCT00103168 Phase 3 imatinib mesylate
12 A Phase 3 Study to Evaluate Efficacy and Safety of Masitinib in Comparison to Imatinib in Patients With Gastro-Intestinal Stromal Tumour in First Line Medical Treatment Unknown status NCT00812240 Phase 3 masitinib (AB1010);imatinib
13 A Phase 3 Study to Evaluate Efficacy and Safety of Masitinib in Comparison to Sunitinib in Patients With Gastrointestinal Stromal Tumour After Progression With Imatinib Unknown status NCT01694277 Phase 3 Masitinib;Sunitinib
14 Masitinib vs Placebo - Phase III Study to Compare the Efficacy and Safety of Masitinib to Placebo in Patients With Localized, Primary GIST After Complete Surgery and With High Risk of Recurrence Unknown status NCT02009423 Phase 3 Masitinib;Placebo
15 Efficacy of Nilotinib in Adult Patients With Gastrointestinal Stromal Tumors Resistant to Imatinib and Sunitinib. Completed NCT01289028 Phase 3 Nilotinib
16 Open-label Trial of GlivecWith Unresectable or Metastatic Malignant Gastrointestinal Stromal Tumors Completed NCT00293124 Phase 3 Glivec
17 Imatinib Mesylate in Treating Patients With Primary Gastrointestinal Stromal Tumor That Has Been Completely Removed By Surgery Completed NCT00041197 Phase 3 imatinib mesylate
18 A Study To Assess The Safety And Efficacy Of SU11248 In Patients With Gastrointestinal Stromal Tumor(GIST) Completed NCT00075218 Phase 3 Placebo;SU011248
19 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
20 Detection of CF-DNA in Patients With Gastrointestinal Stromal Tumors (GIST) Completed NCT01462994 Phase 3
21 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
22 Rechallenge of Imatinib in GIST Having no Effective Treatment Completed NCT01151852 Phase 3 Imatinib;Placebo
23 A Study of Nilotinib Versus Imatinib in GIST Patients Completed NCT00785785 Phase 3 Nilotinib (AMN107);imatinib (STI571)
24 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®
25 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
26 Caphosol in Oral Mucositis Due to Targeted Therapy Completed NCT01265810 Phase 3
27 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
28 Safety and Efficacy of OP2000 (Deligoparin) in the Treatment of Active Ulcerative Colitis Completed NCT00033943 Phase 2, Phase 3 deligoparin
29 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
30 Phase 3 Study of DCC-2618 vs Placebo in Advanced GIST Patients Who Have Been Treated With Prior Anticancer Therapies Recruiting NCT03353753 Phase 3 DCC-2618;Placebo Oral Tablet
31 EUS-FNB vs. Single-incision Needle-knife (SINK) Biopsy for Gastrointestinal SELs Recruiting NCT02866045 Phase 3
32 Randomized Trial of Crenolanib in Subjects With D842V Mutated GIST Recruiting NCT02847429 Phase 3 Crenolanib;Placebo
33 Three Versus Five Years of Adjuvant Imatinib as Treatment of Patients With Operable GIST Recruiting NCT02413736 Phase 3 Imatinib
34 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
35 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
36 L-carnitine vs Placebo for the Treatment of Muscle Cramps After Imatinib in Gastrointestinal Stromal Tumors Not yet recruiting NCT03426722 Phase 3 L-carnitine;Placebo
37 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
38 Imatinib Mesylate With or Without Bevacizumab in Treating Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumor Terminated NCT00324987 Phase 3 Imatinib Mesylate
39 Safety And Effectiveness Of Daily Dosing With Sunitinib Or Imatinib In Patients With Gastrointestinal Stromal Tumors Terminated NCT00372567 Phase 3 sunitinib malate;imatinib mesylate
40 Comparison of Two Different Doses of STI571 in Treating Patients With Metastatic or Unresectable Gastrointestinal Stromal Tumor Terminated NCT00009906 Phase 3 Imatinib Mesylate
41 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
42 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
43 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
44 A Study of Famitinib in Patients With Gastrointestinal Stromal Tumor Unknown status NCT02336724 Phase 2 Famitinib
45 A Phase 2 Study to Evaluate Efficacy and Safety of Masitinib in Comparison to Sunitinib in Patients With Gastro-Intestinal Stromal Tumour Resistant to Imatinib Unknown status NCT01506336 Phase 2 masitinib;sunitinib
46 Gleevec Administered Preoperatively to Reduce Gastrointestinal Stromal Tumor (GIST) Unknown status NCT00290485 Phase 2 Imatinib mesylate
47 A Phase 2 Study to Evaluate Efficacy and Safety of Masitinib in Non Pre-treated, Inoperable Patients With Locally Advanced/Metastatic Gastro-intestinal Stromal Tumour (GIST) Unknown status NCT00998751 Phase 2 oral masitinib
48 Regorafenib in GIST With Secondary C-KIT Exon 17 Mutation Unknown status NCT02606097 Phase 2 regorafenib
49 Ph II of Capecitabine, Carboplatin & Bevacizumab for Gastroesophageal Junction & Gastric Carcinoma Unknown status NCT00780494 Phase 2 bevacizumab;carboplatin;capecitabine
50 Salvage Therapy With Sunitinib,Docetaxel and Platinum on Metastatic or Unresectable Non Small Cell Lung Cancer Unknown status NCT01019798 Phase 2 sunitinib, docetaxel, cisplatin

Search NIH Clinical Center for Gastrointestinal Stromal Tumor

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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 PDGFRA SDHB SDHC

Anatomical Context for Gastrointestinal Stromal Tumor

MalaCards organs/tissues related to Gastrointestinal Stromal Tumor:

38
Small Intestine, Liver, Endothelial, Colon, Myeloid, Smooth Muscle, Lung

Publications for Gastrointestinal Stromal Tumor

Articles related to Gastrointestinal Stromal Tumor:

(show top 50) (show all 1410)
# Title Authors Year
1
Long-term outcome of dasatinib first-line treatment in gastrointestinal stromal tumor: A multicenter, 2-stage phase 2 trial (Swiss Group for Clinical Cancer Research 56/07). ( 29315500 )
2018
2
Neoadjuvant therapy for gastrointestinal stromal tumor. ( 29441368 )
2018
3
Tumor necrosis and >20A mitoses per 50 high-power fields can distinguish 'very high-risk' and 'highest-risk' within 'high-risk' gastric gastrointestinal stromal tumor. ( 29411689 )
2018
4
Intraductal papillary bile duct adenocarcinoma and gastrointestinal stromal tumor in a case of neurofibromatosis type 1. ( 29398874 )
2018
5
CCDC26 knockdown enhances resistance of gastrointestinal stromal tumor cells to imatinib by interacting with c-KIT. ( 29423012 )
2018
6
Regorafenib regresses an imatinib-resistant recurrent gastrointestinal stromal tumor (GIST) with a mutation in exons 11 and 17 in a patient-derived orthotopic xenograft (PDOX) nude mouse model. ( 29334307 )
2018
7
Gastroduodenal intussusception and pylorus obstruction induced by a c-KIT-negative gastric gastrointestinal stromal tumor: case report and review of the literature. ( 29346826 )
2018
8
Primary Gastric Synovial Sarcoma Mimicking a Gastrointestinal Stromal Tumor (GIST) : Gastric Synovial Sarcoma. ( 29313287 )
2018
9
Effect of Gastrointestinal Bleeding on Gastrointestinal Stromal Tumor Patients: A Retrospective Cohort Study. ( 29346334 )
2018
10
Molecular characterization and pathogenesis of gastrointestinal stromal tumor. ( 29441367 )
2018
11
Gastrointestinal stromal tumor of the esophagus: current issues of diagnosis, surgery and drug therapy. ( 29441371 )
2018
12
Extracardiac Tumor From Duodenal Primary Gastrointestinal Stromal Tumor. ( 29279471 )
2017
13
Skull Metastasis of Gastric Gastrointestinal Stromal Tumor Successfully Managed by Surgery. ( 28061498 )
2017
14
Chinese consensus guidelines for diagnosis and management of gastrointestinal stromal tumor. ( 28947860 )
2017
15
Glomus tumor of the stomach-a tumor that needs to be differentiated from gastrointestinal stromal tumor. ( 28501534 )
2017
16
PLCB4 copy gain and PLCA94 overexpression in primary gastrointestinal stromal tumors: Integrative characterization of a lipid-catabolizing enzyme associated with worse disease-free survival. ( 28212550 )
2017
17
Meckel Diverticulum Harboring a Rare Gastrointestinal Stromal Tumor. ( 28331460 )
2017
18
An Intra-Abdominal Desmoid Tumor, Embedded in the Pancreas, Preoperatively Diagnosed as an Extragastric Growing Gastrointestinal Stromal Tumor. ( 28512414 )
2017
19
Acute diffuse peritonitis due to spontaneous rupture of a primary gastrointestinal stromal tumor of the jejunum: A case report. ( 28888914 )
2017
20
Gastrointestinal Stromal Tumor. ( 28750384 )
2017
21
Gastrointestinal stromal tumor presenting as a right adnexal mass with histopathologic correlation. ( 28494279 )
2017
22
Anti-tumor efficacy of oncolytic reovirus against gastrointestinal stromal tumor cells. ( 29383187 )
2017
23
Primary cutaneous amelanotic melanoma and gastrointestinal stromal tumor in synchronous evolution. ( 29166513 )
2017
24
A Congenital Gastric Anomaly, Masquerading as Gastrointestinal Stromal Tumor. ( 28056350 )
2017
25
Clinicopathological and molecular features of a large cohort of gastrointestinal stromal tumors (GISTs) and review of the literature: BRAF mutations in KIT/PDGFRA wild-type GISTs are rare events. ( 28159677 )
2017
26
Consumptive hypothyroidism: an unusual paraneoplastic manifestation of a gastric gastrointestinal stromal tumor. ( 29284772 )
2017
27
Orai1 mediates tumor-promoting store-operated Ca(2+) entry in human gastrointestinal stromal tumors via c-KIT and the extracellular signal-regulated kinase pathway. ( 28231736 )
2017
28
Extra-Gastrointestinal Stromal Tumor of Prostate. ( 28418346 )
2017
29
Gastrointestinal Stromal Tumor Showing Intense Tracer Uptake on PSMA PET/CT. ( 28072616 )
2017
30
Management of esophageal gastrointestinal stromal tumor: review of one hundred seven patients. ( 28881878 )
2017
31
Direct engagement of the PI3K pathway by mutant KIT dominates oncogenic signaling in gastrointestinal stromal tumor. ( 28923937 )
2017
32
Gastrointestinal Stromal Tumor Induced Hypercalcemia. ( 28484656 )
2017
33
Huge Metastatic Gastrointestinal Stromal Tumor Occupying the Right Ventricle. ( 28867691 )
2017
34
Complete response to second-line chemotherapy with sunitinib of a gastrointestinal stromal tumor: A case report. ( 28685083 )
2017
35
Gastrointestinal stromal tumor with synchronous colorectal adenocarcinoma. ( 28655207 )
2017
36
BRUNNER GLAND ADENOMA MASQUERADING AS DUODENAL GASTROINTESTINAL STROMAL TUMOR WITH INTUSSUSCEPTION: CASE REPORT. ( 28489176 )
2017
37
Duodenal gastrointestinal stromal tumor A case report. ( 28874632 )
2017
38
Familial gastrointestinal stromal tumors, lentigines, and cafAc-au-lait macules associated with germline c-kit mutation treated with imatinib. ( 28074523 )
2017
39
Detection of mutations in the BRAF gene in patients with KIT and PDGFRA wild-type gastrointestinal stromal tumors. ( 27864688 )
2017
40
Somatic mutational spectrum analysis in a prospective series of 104 gastrointestinal stromal tumors. ( 28098915 )
2017
41
Removal of an extraluminal gastric gastrointestinal stromal tumor: the role of submucosal tunneling endoscopic resection. ( 28068687 )
2017
42
A Case of Non-Islet Cell Tumor Hypoglycemia (NICTH) Associated with Gastrointestinal Stromal Tumor (GIST). ( 28900071 )
2017
43
Dual Targeting of Insulin Receptor and KIT in Imatinib-Resistant Gastrointestinal Stromal Tumors. ( 28760855 )
2017
44
A phase II trial of regorafenib in patients with metastatic and/or a unresectable gastrointestinal stromal tumor harboring secondary mutations of exon 17. ( 28487491 )
2017
45
Prognostic significance of KIT exon 11 deletion mutation in intermediate-risk gastrointestinal stromal tumor. ( 27753268 )
2017
46
Efficacy and safety of regorafenib for advanced gastrointestinal stromal tumor after failure with imatinib and sunitinib treatment: A meta-analysis. ( 29310342 )
2017
47
A Giant Gastrointestinal Stromal Tumor with Cystic Morphology. ( 29279469 )
2017
48
Dermatofibrosarcoma protuberans and gastrointestinal stromal tumor as models for targeted therapy in soft tissue sarcomas. ( 28988501 )
2017
49
Gastrointestinal stromal tumor with a PDGFRA mutation masquerading as gastric plexiform fibromyxoma: A comparative clinicopathological study of two cases. ( 28356974 )
2017
50
A Novel Curative Treatment Strategy for Patients with Lower Grade Rectal Gastrointestinal Stromal Tumor: Chemoreduction Combined with Transanal Endoscopic Microsurgery. ( 28358587 )
2017

Variations for Gastrointestinal Stromal Tumor

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

71
# 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 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Pathogenic/Likely pathogenic rs74315367 GRCh37 Chromosome 1, 17350520: 17350520
2 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh37 Chromosome 1, 17349143: 17349143
3 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh37 Chromosome 1, 17371377: 17371377
4 PDGFRA NM_006206.5(PDGFRA): c.2525A> T (p.Asp842Val) single nucleotide variant Pathogenic rs121908585 GRCh37 Chromosome 4, 55152093: 55152093
5 PDGFRA NM_006206.5(PDGFRA): c.2526_2537delCATCATGCATGA (p.Ile843_Asp846del) deletion Pathogenic/Likely pathogenic rs587776792 GRCh38 Chromosome 4, 54285927: 54285938
6 PDGFRA NM_006206.5(PDGFRA): c.2533_2544delCATGATTCGAAC (p.His845_Asn848del) deletion Pathogenic rs587776793 GRCh37 Chromosome 4, 55152101: 55152112
7 PDGFRA NM_006206.5(PDGFRA): c.1682T> A (p.Val561Asp) single nucleotide variant Pathogenic rs121908586 GRCh37 Chromosome 4, 55141036: 55141036
8 PDGFRA NM_006206.5(PDGFRA): c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg) insertion Pathogenic rs587776794 GRCh38 Chromosome 4, 54274868: 54274869
9 PDGFRA NM_006206.5(PDGFRA): c.1679_1693delGGGTCATTGAATCAA (p.Arg560_Ser564del) deletion Pathogenic rs587776795 GRCh38 Chromosome 4, 54274866: 54274880
10 PDGFRA NM_006206.5(PDGFRA): c.1696_1713del18 (p.Ser566_Glu571del) deletion Pathogenic rs121913271 GRCh38 Chromosome 4, 54274883: 54274900
11 PDGFRA NM_006206.5(PDGFRA): c.2536G> T (p.Asp846Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121908588 GRCh37 Chromosome 4, 55152104: 55152104
12 PDGFRA NM_006206.5(PDGFRA): c.1664A> G (p.Tyr555Cys) single nucleotide variant Pathogenic rs121908589 GRCh37 Chromosome 4, 55141018: 55141018
13 KIT NM_000222.2(KIT): c.1676_1681delTTGTTG (p.Val559_Val560del) deletion Pathogenic rs587776803 GRCh38 Chromosome 4, 54727444: 54727449
14 KIT NM_000222.2(KIT): c.1652_1666delCCATGTATGAAGTAC (p.Pro551_Val555del) deletion Pathogenic rs587776804 GRCh37 Chromosome 4, 55593586: 55593600
15 KIT KIT, 15-BP DEL/LYS550ILE deletion Pathogenic
16 KIT NM_000222.2(KIT): c.1676T> A (p.Val559Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh37 Chromosome 4, 55593610: 55593610
17 KIT NM_000222.2(KIT): c.1648_1674del27 (p.Lys550_Lys558del) deletion Pathogenic rs121913234 GRCh38 Chromosome 4, 54727416: 54727442
18 KIT NM_000222.2(KIT): c.2446G> T (p.Asp816Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913506 GRCh37 Chromosome 4, 55599320: 55599320
19 KIT NM_000222.2(KIT): c.2515G> A (p.Glu839Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913509 GRCh37 Chromosome 4, 55602694: 55602694
20 KIT NM_000222.2(KIT): c.2446G> C (p.Asp816His) single nucleotide variant Pathogenic/Likely pathogenic rs121913506 GRCh37 Chromosome 4, 55599320: 55599320
21 KIT NM_000222.2(KIT): c.1676T> C (p.Val559Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh37 Chromosome 4, 55593610: 55593610
22 KIT NM_000222.2(KIT): c.1924A> G (p.Lys642Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913512 GRCh37 Chromosome 4, 55594221: 55594221
23 BRAF NM_004333.4(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic/Likely pathogenic rs113488022 GRCh37 Chromosome 7, 140453136: 140453136
24 SDHB NM_003000.2(SDHB): c.575G> C (p.Cys192Ser) single nucleotide variant Likely pathogenic rs397516835 GRCh37 Chromosome 1, 17350535: 17350535
25 KRAS NM_033360.3(KRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
26 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs587781270 GRCh38 Chromosome 1, 17033058: 17033058
27 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh37 Chromosome 1, 17380442: 17380442
28 SDHB NM_003000.2(SDHB): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs786203251 GRCh38 Chromosome 1, 17022649: 17022649
29 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
30 MTHFR NM_005957.4(MTHFR): c.665C> T (p.Ala222Val) single nucleotide variant drug response rs1801133 GRCh37 Chromosome 1, 11856378: 11856378
31 MTHFR NM_005957.4(MTHFR): c.1286A> C (p.Glu429Ala) single nucleotide variant drug response rs1801131 GRCh37 Chromosome 1, 11854476: 11854476
32 FASTKD3; MTRR NM_002454.2(MTRR): c.66A> G (p.Ile22Met) single nucleotide variant drug response rs1801394 GRCh37 Chromosome 5, 7870973: 7870973
33 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631
34 KIT NM_000222.2(KIT): c.1669_1674delTGGAAG (p.Trp557_Lys558del) deletion Likely pathogenic rs869025568 GRCh38 Chromosome 4, 54727437: 54727442
35 SDHB NM_003000.2(SDHB): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs876658461 GRCh37 Chromosome 1, 17350470: 17350470
36 SDHC NM_003001.3(SDHC): c.406-?_*2318+?del deletion Pathogenic
37 SDHB NM_003000.2(SDHB): c.-151_*159del deletion Pathogenic GRCh38 Chromosome 1, 17018722: 17054170
38 SDHB NM_003000.2(SDHB): c.271A> T (p.Arg91Ter) single nucleotide variant Pathogenic rs878854575 GRCh37 Chromosome 1, 17359570: 17359570
39 SDHB NM_003000.2(SDHB): c.126delT (p.Phe42Leufs) deletion Pathogenic rs878854572 GRCh37 Chromosome 1, 17371330: 17371330
40 KIT NM_000222.2(KIT): c.2881G> A (p.Gly961Ser) single nucleotide variant drug response rs773828910 GRCh38 Chromosome 4, 54738507: 54738507
41 SDHB NM_003000.2(SDHB): c.201-?_765+?dup duplication Likely pathogenic
42 PDGFRA NM_006206.5(PDGFRA): c.1977C> A (p.Asn659Lys) single nucleotide variant Pathogenic rs1057519700 GRCh37 Chromosome 4, 55144148: 55144148
43 PDGFRA NM_006206.5(PDGFRA): c.1977C> G (p.Asn659Lys) single nucleotide variant Pathogenic rs1057519700 GRCh37 Chromosome 4, 55144148: 55144148
44 KIT NM_000222.2(KIT): c.1669T> A (p.Trp557Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121913235 GRCh37 Chromosome 4, 55593603: 55593603
45 KIT NM_000222.2(KIT): c.1669T> C (p.Trp557Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121913235 GRCh38 Chromosome 4, 54727437: 54727437
46 KIT NM_000222.2(KIT): c.1674G> T (p.Lys558Asn) single nucleotide variant Pathogenic/Likely pathogenic rs200375589 GRCh37 Chromosome 4, 55593608: 55593608
47 KIT NM_000222.2(KIT): c.1676T> G (p.Val559Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh37 Chromosome 4, 55593610: 55593610
48 KIT NM_000222.2(KIT): c.1679_1681delTTG (p.Val560del) deletion Pathogenic/Likely pathogenic rs121913685 GRCh37 Chromosome 4, 55593612: 55593614
49 KIT NM_000222.2(KIT): c.1679T> A (p.Val560Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913521 GRCh37 Chromosome 4, 55593613: 55593613
50 KIT NM_000222.2(KIT): c.1679T> G (p.Val560Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913521 GRCh37 Chromosome 4, 55593613: 55593613

Cosmic variations for Gastrointestinal Stromal Tumor:

9 (show top 50) (show all 141)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM776 PIK3CA soft tissue,stomach,gastrointestinal stromal tumour,spindle c.3140A>T p.H1047L 21
2 COSM6146 PIK3CA soft tissue,stomach,gastrointestinal stromal tumour,spindle c.3137C>T p.A1046V 21
3 COSM736 PDGFRA soft tissue,stomach,gastrointestinal stromal tumour,spindle c.2525A>T p.D842V 21
4 COSM22415 PDGFRA soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1977C>A p.N659K 21
5 COSM739 PDGFRA soft tissue,stomach,gastrointestinal stromal tumour,epithelioid c.1682T>A p.V561D 21
6 COSM12396 PDGFRA soft tissue,stomach,gastrointestinal stromal tumour,epithelioid c.2524G>T p.D842Y 21
7 COSM22414 PDGFRA soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1977C>G p.N659K 21
8 COSM22416 PDGFRA soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1975A>T p.N659Y 21
9 COSM96893 PDGFRA soft tissue,stomach,gastrointestinal stromal tumour,spindle c.2533C>T p.H845Y 21
10 COSM1221 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1669T>G p.W557G 21
11 COSM12706 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1961T>C p.V654A 21
12 COSM1257 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle and epithelioid c.1679T>A p.V560D 21
13 COSM1252 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1676T>A p.V559D 21
14 COSM1243 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1674G>A p.K558K 21
15 COSM1166 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1649A>G p.K550R 21
16 COSM1167 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1650A>C p.K550N 21
17 COSM1260 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1679T>G p.V560G 21
18 COSM1216 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1669T>A p.W557R 21
19 COSM1253 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1676T>G p.V559G 21
20 COSM308543 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle and epithelioid c.1711A>C p.I571L 21
21 COSM22379 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.2458G>C p.D820H 21
22 COSM1227 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1670G>C p.W557S 21
23 COSM1219 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1669T>C p.W557R 21
24 COSM1278 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1703A>G p.Y568C 21
25 COSM1255 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1676T>C p.V559A 21
26 COSM12708 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle and epithelioid c.2009C>T p.T670I 21
27 COSM24750 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1699A>C p.N567H 21
28 COSM25064 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1928T>C p.V643A 21
29 COSM12709 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.2460T>A p.D820E 21
30 COSM96889 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1513A>C p.N505H 21
31 COSM1184 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1655T>A p.M552K 21
32 COSM96888 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1714G>A p.D572N 21
33 COSM18681 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.2467T>G p.Y823D 21
34 COSM33903 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1730C>T p.P577L 21
35 COSM17944 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1660G>A p.E554K 21
36 COSM1183 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1654A>C p.M552L 21
37 COSM1297 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1751T>C p.F584S 21
38 COSM19216 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1674G>C p.K558N 21
39 COSM1302 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1769G>A p.S590N 21
40 COSM25065 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1940T>C p.L647P 21
41 COSM1154 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1491G>A p.V497V 21
42 COSM24749 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1690A>C p.N564H 21
43 COSM96885 KIT soft tissue,stomach,gastrointestinal stromal tumour,spindle c.1526A>T p.K509I 21
44 COSM12504 CDKN2A soft tissue,stomach,gastrointestinal stromal tumour,epithelioid c.247C>T p.H83Y 21
45 COSM12591 PIK3CA soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.3127A>G p.M1043V 18
46 COSM774 PIK3CA soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.3139C>T p.H1047Y 18
47 COSM22413 PDGFRA soft tissue,small intestine,gastrointestinal stromal tumour,spindle and epithelioid c.2472C>T p.V824V 18
48 COSM19325 PDGFRA soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.1765C>T p.P589S 18
49 COSM19324 PDGFRA soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.2464C>A p.R822S 18
50 COSM1304 KIT soft tissue,small intestine,gastrointestinal stromal tumour,spindle c.1924A>G p.K642E 18

Copy number variations for Gastrointestinal Stromal Tumor from CNVD:

7 (show top 50) (show all 117)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13352 1 1 125000000 Loss Gastrointestinal stromal cancer
2 13353 1 1 125000000 Loss Gastrointestinal stromal cancer
3 13354 1 1 125000000 Loss Gastrointestinal stromal cancer
4 13766 1 1 28000000 Loss Gastrointestinal stromal cancer
5 14271 1 106334457 114964386 Loss AMPD1 Gastrointestinal stromal cancer
6 14272 1 106334457 114964386 Loss AP4B1 Gastrointestinal stromal cancer
7 14273 1 106334457 114964386 Loss BCAS2 Gastrointestinal stromal cancer
8 16434 1 124300000 247249719 Gain Gastrointestinal stromal cancer
9 17388 1 142600000 147000000 Gain PEX11B Gastrointestinal stromal cancer
10 29288 1 2300000 117600000 Loss Gastrointestinal stromal cancer
11 36966 1 84129665 95422234 Loss RWDD3 Gastrointestinal stromal cancer
12 38126 1 99947682 100601821 Loss AGL Gastrointestinal stromal cancer
13 38127 1 99947682 100601821 Loss HIAT1 Gastrointestinal stromal cancer
14 44527 10 5878820 6526558 Loss FBXO18 Gastrointestinal stromal cancer
15 44528 10 5878820 6526558 Loss PFKFB3 Gastrointestinal stromal cancer
16 44529 10 5878820 6526558 Loss RBM17 Gastrointestinal stromal cancer
17 45852 10 74900000 135534747 Loss Gastrointestinal stromal cancer
18 48507 11 1 53700000 Copy number Gastrointestinal stromal cancer
19 66050 12 24991089 25698435 Deletion KRAS Gastrointestinal stromal cancer
20 67067 12 35800000 133851895 Gain Gastrointestinal stromal cancer
21 70005 12 57021816 85836547 Deletion RAP1B Gastrointestinal stromal cancer
22 73900 12 98322858 130692602 Deletion RAN Gastrointestinal stromal cancer
23 74692 13 110300000 115169878 Loss Gastrointestinal stromal cancer
24 75247 13 18400000 105800000 Loss Gastrointestinal stromal cancer
25 75347 13 19198237 22523922 Deletion LATS2 Gastrointestinal stromal cancer
26 75669 13 22536202 31430096 Deletion RNF6 Gastrointestinal stromal cancer
27 77894 13 48011276 54590729 Deletion TRIM13 Gastrointestinal stromal cancer
28 77895 13 48011276 54590729 Deletion INTS6 Gastrointestinal stromal cancer
29 78534 13 52523853 72250500 Gain TDRD3 Gastrointestinal stromal cancer
30 79527 13 73160881 93888882 Gain C13orf7 Gastrointestinal stromal cancer
31 80767 13 97404021 99434703 Loss CLYBL Gastrointestinal stromal cancer
32 80768 13 97404021 99434703 Loss STK24 Gastrointestinal stromal cancer
33 80769 13 97404021 99434703 Loss TM9SF2 Gastrointestinal stromal cancer
34 82833 14 17600000 107349540 Loss Gastrointestinal stromal cancer
35 82834 14 17600000 107349540 Loss Gastrointestinal stromal cancer
36 83013 14 19100000 106368585 Loss Gastrointestinal stromal cancer
37 83178 14 19365081 106329840 Loss OXA1L Gastrointestinal stromal cancer
38 83179 14 19365081 106329840 Loss PPP2R5E Gastrointestinal stromal cancer
39 84716 14 33942779 34940779 Loss C14orf10 Gastrointestinal stromal cancer
40 84717 14 33942779 34940779 Loss C14orf24 Gastrointestinal stromal cancer
41 85081 14 38585823 38760942 Deletion PNN Gastrointestinal stromal cancer
42 86405 14 59284472 61286479 Deletion PPM1A Gastrointestinal stromal cancer
43 87231 14 72470216 73993089 Loss C14orf168 Gastrointestinal stromal cancer
44 87232 14 72470216 73993089 Loss PSEN1 Gastrointestinal stromal cancer
45 87233 14 72470216 73993089 Loss ZADH1 Gastrointestinal stromal cancer
46 87234 14 72470216 73993089 Loss ZFYVE1 Gastrointestinal stromal cancer
47 87235 14 72470216 73993089 Loss ZNF410 Gastrointestinal stromal cancer
48 87381 14 73126255 89981048 Deletion SEL1L Gastrointestinal stromal cancer
49 87752 14 76889274 77394297 Loss C14orf133 Gastrointestinal stromal cancer
50 87753 14 76889274 77394297 Loss C14orf156 Gastrointestinal stromal cancer

Expression for Gastrointestinal Stromal Tumor

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

Pathways for Gastrointestinal Stromal Tumor

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

(show all 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 ABL1 FLT3 KIT KITLG NTRK3 PDGFRA
2
Show member pathways
13.3 ETV1 FLT3 KIT KITLG NTRK3 PDGFRA
3
Show member pathways
13.24 FLT3 KIT KITLG NTRK3 PDGFRA PDGFRB
4
Show member pathways
13.14 FLT3 KIT KITLG NTRK3 PDGFRA PDGFRB
5
Show member pathways
12.97 KIT KITLG NTRK3 PDGFRA PDGFRB PRKCQ
6
Show member pathways
12.94 KIT KITLG NTRK3 PDGFRA PDGFRB PRKCQ
7
Show member pathways
12.89 ACTC1 FLT3 KIT NTRK3 PDGFRA PDGFRB
8 12.72 ABL1 FLT3 KIT KITLG PDGFRA PDGFRB
9 12.67 FLT3 KIT KITLG PDGFRA PDGFRB
10
Show member pathways
12.58 ABL1 FLT3 KIT KITLG PDGFRA PDGFRB
11
Show member pathways
12.36 NTRK3 PDGFRA PDGFRB PRKCQ
12
Show member pathways
12.32 KIT KITLG PDGFRA PDGFRB
13
Show member pathways
12.06 ENO2 MTHFR SDHA SDHB SDHC SDHD
14
Show member pathways
11.95 SDHA SDHB SDHC SDHD
15 11.88 CD34 FLT3 KIT KITLG
16 11.76 CD34 FLT3 KIT KITLG
17
Show member pathways
11.73 ENO2 SDHA SDHB SDHC SDHD
18 11.7 PDGFRA S100B VIM
19 11.69 CD34 KIT KITLG
20 11.66 CD34 FLT3 KIT
21
Show member pathways
11.65 FLT3 KIT PDGFRB PRKCQ
22 11.62 ACTC1 DES VIM
23
Show member pathways
11.5 ABL1 KIT PDGFRA PDGFRB
24 11.47 CD34 FLT3 KIT
25 11.46 ACTC1 KIT PDGFRA
26 11.33 NTRK3 PDGFRA PDGFRB PRKCQ
27 11.32 NTRK3 PDGFRA PDGFRB PRKCQ
28 11.26 ABL1 FLT3 KIT KITLG PDGFRA PDGFRB
29 11.17 FLT3 KIT NTRK3 PDGFRA PDGFRB
30 10.79 PDGFRA PDGFRB
31 10.66 DES FLT3 KIT KITLG NTRK3 PDGFRA

GO Terms for Gastrointestinal Stromal Tumor

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

# Name GO ID Score Top Affiliating Genes
1 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD
3 cytoplasm GO:0005737 10.1 ABL1 ACTC1 CD34 DES ENO2 FLT3
4 membrane GO:0016020 10.06 ABL1 ACTC1 CD34 DES ENO2 FLT3

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.96 KIT KITLG PDGFRA PDGFRB
2 positive regulation of cell migration GO:0030335 9.92 KIT NTRK3 PDGFRA PDGFRB
3 positive regulation of protein kinase B signaling GO:0051897 9.9 KIT KITLG PDGFRA PDGFRB
4 phosphatidylinositol phosphorylation GO:0046854 9.85 KIT KITLG PDGFRA PDGFRB
5 electron transport chain GO:0022900 9.83 SDHA SDHB SDHC
6 hemopoiesis GO:0030097 9.82 CD34 FLT3 KIT
7 cell chemotaxis GO:0060326 9.81 KIT PDGFRA PDGFRB PRKCQ
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.8 FLT3 KIT PDGFRA PDGFRB
9 positive regulation of MAP kinase activity GO:0043406 9.78 FLT3 KIT KITLG PDGFRB
10 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.77 FLT3 KIT NTRK3 PDGFRA PDGFRB
11 muscle filament sliding GO:0030049 9.75 ACTC1 DES VIM
12 platelet-derived growth factor receptor signaling pathway GO:0048008 9.73 ABL1 PDGFRA PDGFRB
13 retina vasculature development in camera-type eye GO:0061298 9.64 PDGFRA PDGFRB
14 succinate metabolic process GO:0006105 9.64 SDHA SDHB
15 Bergmann glial cell differentiation GO:0060020 9.63 ABL1 VIM
16 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.63 PDGFRA PDGFRB
17 ectopic germ cell programmed cell death GO:0035234 9.62 KIT KITLG
18 myeloid progenitor cell differentiation GO:0002318 9.61 FLT3 KIT
19 cardiac myofibril assembly GO:0055003 9.61 ACTC1 PDGFRA PDGFRB
20 metanephric glomerular capillary formation GO:0072277 9.59 PDGFRA PDGFRB
21 platelet-derived growth factor receptor-beta signaling pathway GO:0035791 9.58 ABL1 PDGFRB
22 positive regulation of phospholipase C activity GO:0010863 9.58 KIT PDGFRA PDGFRB
23 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.57 PDGFRA PDGFRB
24 tricarboxylic acid cycle GO:0006099 9.56 SDHA SDHB SDHC SDHD
25 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.5 SDHA SDHC SDHD
26 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.46 FLT3 KIT PDGFRA PDGFRB
27 protein autophosphorylation GO:0046777 9.43 ABL1 FLT3 KIT NTRK3 PDGFRA PDGFRB
28 peptidyl-tyrosine phosphorylation GO:0018108 9.1 ABL1 FLT3 KIT NTRK3 PDGFRA PDGFRB
29 phosphorylation GO:0016310 10.08 ABL1 FLT3 KIT NTRK3 PDGFRA PDGFRB
30 protein phosphorylation GO:0006468 10.07 ABL1 FLT3 KIT NTRK3 PDGFRA PDGFRB
31 positive regulation of gene expression GO:0010628 10.01 ACTC1 CD34 KIT NTRK3 VIM
32 positive regulation of cell proliferation GO:0008284 10 FLT3 KIT KITLG NTRK3 PDGFRA PDGFRB

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.98 ABL1 FLT3 KIT NTRK3 PDGFRA PDGFRB
2 protein kinase activity GO:0004672 9.87 ABL1 FLT3 KIT NTRK3 PDGFRA PDGFRB
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.76 KIT KITLG PDGFRA PDGFRB
4 electron transfer activity GO:0009055 9.71 SDHA SDHB SDHC SDHD
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.67 KIT KITLG PDGFRA PDGFRB
6 protein tyrosine kinase activity GO:0004713 9.63 ABL1 FLT3 KIT NTRK3 PDGFRA PDGFRB
7 platelet-derived growth factor binding GO:0048407 9.54 PDGFRA PDGFRB
8 ubiquinone binding GO:0048039 9.51 SDHB SDHD
9 vascular endothelial growth factor-activated receptor activity GO:0005021 9.49 FLT3 PDGFRA
10 vascular endothelial growth factor binding GO:0038085 9.48 PDGFRA PDGFRB
11 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.43 SDHA SDHB SDHD
12 succinate dehydrogenase activity GO:0000104 9.13 SDHA SDHC SDHD
13 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.02 FLT3 KIT NTRK3 PDGFRA PDGFRB
14 ATP binding GO:0005524 10.13 ABL1 ACTC1 FLT3 KIT NTRK3 PDGFRA

Sources for Gastrointestinal Stromal Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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