brain vacuoles Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description the abnormal presence of cavities or fluid-filled vesicles in the soma of brain cells, often indicative of spongiosis or other pathological states (Mammalian Phenotype Ontology, MP_0008025)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008025
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Genes

19 gene mutations causing the brain vacuoles phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ASPA aspartoacylase
ATRN attractin
CLCN2 chloride channel, voltage-sensitive 2
COQ9 coenzyme Q9
DCR Down syndrome chromosome region
IDS iduronate 2-sulfatase
LYNX1 Ly6/neurotoxin 1
MAN2C1 mannosidase, alpha, class 2C, member 1
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
PARK2 parkin RBR E3 ubiquitin protein ligase
PDE4B phosphodiesterase 4B, cAMP-specific
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PEPD peptidase D
PIKFYVE phosphoinositide kinase, FYVE finger containing
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRNP prion protein
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SOD2 superoxide dismutase 2, mitochondrial