abnormal 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 nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons (Mammalian Phenotype Ontology, MP_0003634)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003634
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Genes

243 gene mutations causing the abnormal 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
ADAM22 ADAM metallopeptidase domain 22
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4
ADGRG1 adhesion G protein-coupled receptor G1
ADGRG6 adhesion G protein-coupled receptor G6
ADRB2 adrenoceptor beta 2, surface
AFF1 AF4/FMR2 family, member 1
AGA aspartylglucosaminidase
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
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
BAD BCL2-associated agonist of cell death
BASP1 brain abundant, membrane attached signal protein 1
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BID BH3 interacting domain death agonist
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
CHAT choline O-acetyltransferase
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLCN3 chloride channel, voltage-sensitive 3
CLCN7 chloride channel, voltage-sensitive 7
CLDN19 claudin 19
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
CNTF ciliary neurotrophic factor
CNTNAP2 contactin associated protein-like 2
COL4A1 collagen, type IV, alpha 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
COQ9 coenzyme Q9
CP ceruloplasmin (ferroxidase)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CSF1 colony stimulating factor 1 (macrophage)
CTSD cathepsin D
CTSF cathepsin F
CX3CR1 chemokine (C-X3-C motif) receptor 1
DCR Down syndrome chromosome region
DMD dystrophin
DNAI1 dynein, axonemal, intermediate chain 1
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNER delta/notch-like EGF repeat containing
DRD2 dopamine receptor D2
DST dystonin
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EGR2 early growth response 2
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
ERBB3 erb-b2 receptor tyrosine kinase 3
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
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 1
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
IGHMBP2 immunoglobulin mu binding protein 2
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
INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa
INS insulin
ISPD isoprenoid synthase domain containing
ITGB8 integrin, beta 8
JAM3 junctional adhesion molecule 3
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
L1CAM L1 cell adhesion molecule
LAMA1 laminin, alpha 1
LAMA2 laminin, alpha 2
LAMA4 laminin, alpha 4
LAMB2 laminin, beta 2 (laminin S)
LAMC1 laminin, gamma 1 (formerly LAMB2)
LARGE like-glycosyltransferase
LBR lamin B receptor
LDLR low density lipoprotein receptor
LGI1 leucine-rich, glioma inactivated 1
LGI4 leucine-rich repeat LGI family, member 4
LIF leukemia inhibitory factor
LIFR leukemia inhibitory factor receptor alpha
LPAR1 lysophosphatidic acid receptor 1
LPIN1 lipin 1
LRP5 low density lipoprotein receptor-related protein 5
LRRK2 leucine-rich repeat kinase 2
LTN1 listerin E3 ubiquitin protein ligase 1
LYST lysosomal trafficking regulator
MAG myelin associated glycoprotein
MAN2B1 mannosidase, alpha, class 2B, member 1
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
MPZ myelin protein zero
MT3 metallothionein 3
MYO7A myosin VIIA
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
NFIA nuclear factor I/A
NFIB nuclear factor I/B
NGFR nerve growth factor receptor
NKX2-2 NK2 homeobox 2
NOS2 nitric oxide synthase 2, inducible
NOTCH3 notch 3
NPAS4 neuronal PAS domain protein 4
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
OPA1 optic atrophy 1 (autosomal dominant)
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
PHOX2B paired-like homeobox 2b
PI4K2A phosphatidylinositol 4-kinase type 2 alpha
PLP1 proteolipid protein 1
PLXNA1 plexin A1
PLXNB2 plexin B2
PMP22 peripheral myelin protein 22
POU3F1 POU class 3 homeobox 1
POU3F2 POU class 3 homeobox 2
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPT1 palmitoyl-protein thioesterase 1
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRNP prion protein
PRPH2 peripherin 2 (retinal degeneration, slow)
PRX periaxin
PSAP prosaposin
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)
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
SCARB2 scavenger receptor class B, member 2
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
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SNTA1 syntrophin, alpha 1
SOX10 SRY (sex determining region Y)-box 10
SP4 Sp4 transcription factor
SPARCL1 SPARC-like 1 (hevin)
SPEF2 sperm flagellar 2
SPI1 Spi-1 proto-oncogene
SPP1 secreted phosphoprotein 1
STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1
STMN1 stathmin 1
SUMF1 sulfatase modifying factor 1
TENM4 teneurin transmembrane protein 4
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
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)
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
VIM vimentin
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
ZNF24 zinc finger protein 24
ZNF365 zinc finger protein 365