aqueductal stenosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. (Human Phenotype Ontology, HP_0002410)
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10 genes associated with the aqueductal stenosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CHD7 chromodomain helicase DNA binding protein 7
FANCB Fanconi anemia, complementation group B
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
L1CAM L1 cell adhesion molecule
NF1 neurofibromin 1
PTEN phosphatase and tensin homolog
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SF3B4 splicing factor 3b, subunit 4, 49kDa
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6