abnormal cerebral aqueduct morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the channel in the mesencephalon that connects the third and fourth ventricles (Mammalian Phenotype Ontology, MP_0005537)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005537
Similar Terms
Downloads & Tools

Genes

17 gene mutations causing the abnormal cerebral aqueduct morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
DLG5 discs, large homolog 5 (Drosophila)
ERBB3 erb-b2 receptor tyrosine kinase 3
FOXC1 forkhead box C1
GLI3 GLI family zinc finger 3
HTT huntingtin
HYDIN HYDIN, axonemal central pair apparatus protein
KDM2B lysine (K)-specific demethylase 2B
L1CAM L1 cell adhesion molecule
MKS1 Meckel syndrome, type 1
MYH10 myosin, heavy chain 10, non-muscle
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NEK1 NIMA-related kinase 1
NPAS3 neuronal PAS domain protein 3
RFX4 regulatory factor X, 4 (influences HLA class II expression)
RND3 Rho family GTPase 3
SPTAN1 spectrin, alpha, non-erythrocytic 1
UCHL5 ubiquitin carboxyl-terminal hydrolase L5