aganglionic megacolon Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. (Human Disease Ontology, DOID_10487)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002926
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Genes

6 gene mutations causing the aganglionic megacolon phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AEBP2 AE binding protein 2
EDN3 endothelin 3
EDNRB endothelin receptor type B
IHH indian hedgehog
RET ret proto-oncogene
SOX10 SRY (sex determining region Y)-box 10