|Dataset||MPO Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||higher than normal incidence of non-epithelial, mesenchymal tumors of the gastrointestinal tract, thought to 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 tumors of connective tissue, i.e. sarcomas, account for 1-3% of all gastrointestinal malignancies in human, and are typically more cellular than other gastrointestinal sarcomas (Mammalian Phenotype Ontology, MP_0009515)|
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2 gene mutations causing the increased gastrointestinal stromal tumor incidence phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.