abnormal anal canal morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly in the terminal portion of the alimentary canal, which begins at the anorectal junction, where the rectal ampulla abruptly narrows as the alimentary canal pierces the pelvic diaphragm (levator ani), and ends at the anal verge, when the anoderm that lines the lower anal canal changes to hairy perianal skin; surrounded by the internal and external anal sphincters (Mammalian Phenotype Ontology, MP_0009053)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009053
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Genes

20 gene mutations causing the abnormal anal canal morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
DACT1 dishevelled-binding antagonist of beta-catenin 1
EFNB2 ephrin-B2
GDF11 growth differentiation factor 11
GLI3 GLI family zinc finger 3
HOXD12 homeobox D12
HOXD13 homeobox D13
IFT172 intraflagellar transport 172
NOG noggin
PCSK5 proprotein convertase subtilisin/kexin type 5
PLG plasminogen
RAD23B RAD23 homolog B (S. cerevisiae)
RIPK4 receptor-interacting serine-threonine kinase 4
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SESTD1 SEC14 and spectrin domains 1
SFN stratifin
SHH sonic hedgehog
T T, brachyury homolog (mouse)
TP63 tumor protein p63
WNT5A wingless-type MMTV integration site family, member 5A