increased gastrointestinal stromal tumor incidence Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009515
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Genes

2 gene mutations causing the increased gastrointestinal stromal tumor incidence phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CDKN2A cyclin-dependent kinase inhibitor 2A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog