anal stenosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal narrowing of the anal opening. (Human Phenotype Ontology, HP_0002025)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002025
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Genes

15 genes associated with the anal stenosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AMER1 APC membrane recruitment protein 1
CHD7 chromodomain helicase DNA binding protein 7
FREM1 FRAS1 related extracellular matrix 1
KMT2D lysine (K)-specific methyltransferase 2D
MED12 mediator complex subunit 12
MNX1 motor neuron and pancreas homeobox 1
NBN nibrin
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PITX2 paired-like homeodomain 2
RIPK4 receptor-interacting serine-threonine kinase 4
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
TBX3 T-box 3