abnormal cns glial cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons (Mammalian Phenotype Ontology, MP_0000952)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000952
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Genes

181 gene mutations causing the abnormal cns glial cell morphology 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
ABHD12 abhydrolase domain containing 12
ACP2 acid phosphatase 2, lysosomal
ADGRG1 adhesion G protein-coupled receptor G1
ADRB2 adrenoceptor beta 2, surface
AGA aspartylglucosaminidase
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
APP amyloid beta (A4) precursor protein
ARSA arylsulfatase A
ARSG arylsulfatase G
ASPA aspartoacylase
ATOH7 atonal homolog 7 (Drosophila)
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATR ATR serine/threonine kinase
ATRN attractin
BRAF B-Raf proto-oncogene, serine/threonine kinase
CABLES1 Cdk5 and Abl enzyme substrate 1
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CADM1 cell adhesion molecule 1
CANX calnexin
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CD200 CD200 molecule
CD40LG CD40 ligand
CD81 CD81 molecule
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CERS1 ceramide synthase 1
CERS6 ceramide synthase 6
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
CP ceruloplasmin (ferroxidase)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CSF1 colony stimulating factor 1 (macrophage)
CTSD cathepsin D
CX3CR1 chemokine (C-X3-C motif) receptor 1
DCR Down syndrome chromosome region
DMD dystrophin
DNAI1 dynein, axonemal, intermediate chain 1
DNER delta/notch-like EGF repeat containing
DRD2 dopamine receptor D2
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
EN1 engrailed homeobox 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERBB2 erb-b2 receptor tyrosine kinase 2
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)
FA2H fatty acid 2-hydroxylase
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FOXC1 forkhead box C1
FOXJ1 forkhead box J1
FOXP2 forkhead box P2
FSHR follicle stimulating hormone receptor
GALC galactosylceramidase
GBA glucosidase, beta, acid
GFAP glial fibrillary acidic protein
GJC2 gap junction protein, gamma 2, 47kDa
GLI3 GLI family zinc finger 3
GPR17 G protein-coupled receptor 17
GPR34 G protein-coupled receptor 34
GRN granulin
HAX1 HCLS1 associated protein X-1
HES5 hes family bHLH transcription factor 5
HFE hemochromatosis
HOXB8 homeobox B8
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSF1 heat shock transcription factor 1
HSPG2 heparan sulfate proteoglycan 2
HTRA2 HtrA serine peptidase 2
HTT huntingtin
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IDUA iduronidase, alpha-L-
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
IL18 interleukin 18
IL1B interleukin 1, beta
IL34 interleukin 34
IL4 interleukin 4
IL4R interleukin 4 receptor
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
INS insulin
ISPD isoprenoid synthase domain containing
ITGB8 integrin, beta 8
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KLK6 kallikrein-related peptidase 6
LAMA1 laminin, alpha 1
LAMB2 laminin, beta 2 (laminin S)
LAMC1 laminin, gamma 1 (formerly LAMB2)
LDLR low density lipoprotein receptor
LIF leukemia inhibitory factor
LIFR leukemia inhibitory factor receptor alpha
LRRK2 leucine-rich repeat kinase 2
LTN1 listerin E3 ubiquitin protein ligase 1
LYST lysosomal trafficking regulator
MAG myelin associated glycoprotein
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MBP myelin basic protein
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
MMP12 matrix metallopeptidase 12
MMP9 matrix metallopeptidase 9
MT3 metallothionein 3
NCAM1 neural cell adhesion molecule 1
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEU1 sialidase 1 (lysosomal sialidase)
NEUROD1 neuronal differentiation 1
NEUROG2 neurogenin 2
NFE2L2 nuclear factor, erythroid 2-like 2
NKX2-2 NK2 homeobox 2
NOS2 nitric oxide synthase 2, inducible
NPC1 Niemann-Pick disease, type C1
NR2E1 nuclear receptor subfamily 2, group E, member 1
NRG1 neuregulin 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NXNL1 nucleoredoxin-like 1
OGG1 8-oxoguanine DNA glycosylase
OLIG1 oligodendrocyte transcription factor 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PARK2 parkin RBR E3 ubiquitin protein ligase
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PEA15 phosphoprotein enriched in astrocytes 15
PI4K2A phosphatidylinositol 4-kinase type 2 alpha
PLP1 proteolipid protein 1
PLXNA1 plexin A1
PLXNB2 plexin B2
POU3F2 POU class 3 homeobox 2
PPT1 palmitoyl-protein thioesterase 1
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRNP prion protein
PRPH2 peripherin 2 (retinal degeneration, slow)
PSAP prosaposin
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1
QKI QKI, KH domain containing, RNA binding
RHO rhodopsin
RORA RAR-related orphan receptor A
SCYL1 SCY1-like 1 (S. cerevisiae)
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SIM1 single-minded family bHLH transcription factor 1
SLC4A3 solute carrier family 4 (anion exchanger), member 3
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SNTA1 syntrophin, alpha 1
SOX10 SRY (sex determining region Y)-box 10
SPI1 Spi-1 proto-oncogene
SPP1 secreted phosphoprotein 1
SUMF1 sulfatase modifying factor 1
TENM4 teneurin transmembrane protein 4
TERT telomerase reverse transcriptase
TK2 thymidine kinase 2, mitochondrial
TLR2 toll-like receptor 2
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFRSF21 tumor necrosis factor receptor superfamily, member 21
TRIB2 tribbles pseudokinase 2
TSPAN2 tetraspanin 2
TYROBP TYRO protein tyrosine kinase binding protein
VAC14 Vac14 homolog (S. cerevisiae)
VEGFA vascular endothelial growth factor A
VIM vimentin
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
ZNF24 zinc finger protein 24
ZNF365 zinc finger protein 365