Aqueductal Stenosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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)
External Link https://www.disgenet.org/browser/0/1/0/C2936786
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Genes

33 genes associated with the disease Aqueductal Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ARHGAP24 Rho GTPase activating protein 24
CCDC88C coiled-coil domain containing 88C
CCND2 cyclin D2
CHD7 chromodomain helicase DNA binding protein 7
CRB2 crumbs family member 2
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
FANCB Fanconi anemia, complementation group B
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
HYDIN HYDIN, axonemal central pair apparatus protein
IFT122 intraflagellar transport 122
ISPD isoprenoid synthase domain containing
L1CAM L1 cell adhesion molecule
LAGE3 L antigen family, member 3
LAMC2 laminin, gamma 2
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYH10 myosin, heavy chain 10, non-muscle
NANS N-acetylneuraminic acid synthase
NF1 neurofibromin 1
NUP107 nucleoporin 107kDa
NUP133 nucleoporin 133kDa
OSGEP O-sialoglycoprotein endopeptidase
PPP2R1A protein phosphatase 2, regulatory subunit A, alpha
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SF3B4 splicing factor 3b, subunit 4, 49kDa
SIN3A SIN3 transcription regulator family member A
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
TP53RK TP53 regulating kinase
TP73 tumor protein p73
TPRKB TP53RK binding protein
TSPAN31 tetraspanin 31
WDR4 WD repeat domain 4
WDR73 WD repeat domain 73