megacolon Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A colonic disease that is characterized by an abnormal dilation of the colon. (Human Disease Ontology, DOID_11372)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002731
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Genes

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

Symbol Name
AEBP2 AE binding protein 2
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
ARAF A-Raf proto-oncogene, serine/threonine kinase
DACT1 dishevelled-binding antagonist of beta-catenin 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
GDNF glial cell derived neurotrophic factor
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
IHH indian hedgehog
KIF26A kinesin family member 26A
RET ret proto-oncogene
SALL4 spalt-like transcription factor 4
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
SOX10 SRY (sex determining region Y)-box 10
TLX2 T-cell leukemia homeobox 2