Comparative

OMIA group 1516

Gastrointestinal stromal tumour

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

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

  1. Animal disease

    Reached

    OMIA records it in 1 species entry marked as a defect.

  2. Human disease

    Reached

    1 Mondo disease.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    1 Open Targets association, with a best score of 0.89.

  5. Drugs

    Reached

    32 ChEMBL drugs, 15 approved. At least one has been tested for this disease.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

gastrointestinal stromal tumor

85.2 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.89 31.2 of 35
Drugs A drug has reached approved for this disease 25.0 of 25
Ortholog One to one ortholog 20.0 of 20
Both routes One route found this disease 5.0 of 10
Species 1 naturally occurring species entry marked as a defect 4.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species Scientific name OMIA entry A defect
dog Canis lupus familiaris OMIA:001516-9615 Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species Animal gene Human gene Ortholog
dog KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog NCBI Gene 403811 KIT Ensembl one to one

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

Mondo disease Name Found by
MONDO:0011719 gastrointestinal stromal tumor Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1. OMIA's OMIM numbers

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

Human gene Human disease Score Evidence Kinds of evidence
KIT gastrointestinal stromal tumor 0.89 7,740 Literature 0.99 Known drug 0.98 Genetic association 0.91 Affected pathway 0.90 Genetic literature 0.82 Somatic mutation 0.78 Animal model 0.48

Drugs

A drug acts on KIT and has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Avapritinib KIT inhibitor Approved Approved for gastrointestinal stromal tumor
Imatinib KIT inhibitor Approved Approved for gastrointestinal stromal tumor
Ripretinib KIT inhibitor Approved Approved for gastrointestinal stromal tumor
Sunitinib KIT inhibitor Approved Approved for gastrointestinal stromal tumor
Masitinib KIT inhibitor Approved Phase 3 for gastrointestinal stromal tumor
Regorafenib KIT inhibitor Approved Phase 3 for gastrointestinal stromal tumor
Famitinib KIT inhibitor Phase 3 Phase 3 for gastrointestinal stromal tumor
Catequentinib KIT inhibitor Approved Phase 2 for gastrointestinal stromal tumor
Cediranib KIT inhibitor Approved Phase 2 for gastrointestinal stromal tumor
Dasatinib Anhydrous KIT inhibitor Approved Phase 2 for gastrointestinal stromal tumor
Pazopanib KIT inhibitor Approved Phase 2 for gastrointestinal stromal tumor
Sorafenib KIT inhibitor Approved Phase 2 for gastrointestinal stromal tumor
Dovitinib KIT inhibitor Phase 3 Phase 2 for gastrointestinal stromal tumor
Motesanib KIT inhibitor Phase 3 Phase 2 for gastrointestinal stromal tumor
Vatalanib KIT inhibitor Phase 3 Phase 2 for gastrointestinal stromal tumor
Xl-820 KIT inhibitor Phase 2 Phase 2 for gastrointestinal stromal tumor
Pexidartinib KIT inhibitor Approved Phase 1/2 for gastrointestinal stromal tumor
Midostaurin KIT inhibitor Approved No
Quizartinib KIT inhibitor Approved No
Tivozanib KIT inhibitor Approved No
Semaxanib KIT inhibitor Phase 3 No
Seralutinib KIT inhibitor Phase 3 No
Amuvatinib KIT inhibitor Phase 2 No
Briquilimab KIT inhibitor Phase 2 No
Cm-082 KIT inhibitor Phase 2 No
Enmd-2076 KIT inhibitor Phase 2 No
Foretinib KIT inhibitor Phase 2 No
Su-014813 KIT inhibitor Phase 2 No
Tandutinib KIT inhibitor Phase 2 No
Telatinib KIT inhibitor Phase 2 No
Xl-999 KIT inhibitor Phase 2 No
Osi-930 KIT inhibitor Phase 1 No

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.