abnormal interstitial cell of cajal morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which gastrointestinal stromal tumours (GISTs) arise; abnormalities in the ICC network can cause chronic intestinal pseudo-obstruction (Mammalian Phenotype Ontology, MP_0009536)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009536
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1 gene mutations causing the abnormal interstitial cell of cajal morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog