abnormal astrocyte number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord (Mammalian Phenotype Ontology, MP_0012064)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012064
Similar Terms
Downloads & Tools

Genes

62 gene mutations causing the abnormal astrocyte number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2
ACP2 acid phosphatase 2, lysosomal
AGA aspartylglucosaminidase
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
APP amyloid beta (A4) precursor protein
ARSA arylsulfatase A
ARSG arylsulfatase G
ASPA aspartoacylase
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATRN attractin
CANX calnexin
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CERS1 ceramide synthase 1
CLCN3 chloride channel, voltage-sensitive 3
CLCN7 chloride channel, voltage-sensitive 7
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CNTF ciliary neurotrophic factor
CNTNAP2 contactin associated protein-like 2
COL4A1 collagen, type IV, alpha 1
COQ9 coenzyme Q9
DCR Down syndrome chromosome region
DNAI1 dynein, axonemal, intermediate chain 1
DRD2 dopamine receptor D2
EN1 engrailed homeobox 1
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ESR2 estrogen receptor 2 (ER beta)
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXJ1 forkhead box J1
FSHR follicle stimulating hormone receptor
GALC galactosylceramidase
GBA glucosidase, beta, acid
GJC2 gap junction protein, gamma 2, 47kDa
GRN granulin
HAX1 HCLS1 associated protein X-1
HFE hemochromatosis
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HTT huntingtin
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
LTN1 listerin E3 ubiquitin protein ligase 1
MFSD8 major facilitator superfamily domain containing 8
MGAT5B mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NFE2L2 nuclear factor, erythroid 2-like 2
NPC1 Niemann-Pick disease, type C1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
PI4K2A phosphatidylinositol 4-kinase type 2 alpha
PLP1 proteolipid protein 1
PPT1 palmitoyl-protein thioesterase 1
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRNP prion protein
PSAP prosaposin
SCYL1 SCY1-like 1 (S. cerevisiae)
TRIB2 tribbles pseudokinase 2
TSPAN2 tetraspanin 2
VAC14 Vac14 homolog (S. cerevisiae)
VEGFA vascular endothelial growth factor A