abnormal myelination Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. (Human Phenotype Ontology, HP_0012447)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000920
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128 gene mutations causing the abnormal myelination phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACTL6B actin-like 6B
ADAM22 ADAM metallopeptidase domain 22
ADGRG6 adhesion G protein-coupled receptor G6
AFG3L2 AFG3-like AAA ATPase 2
AIRE autoimmune regulator
ARSA arylsulfatase A
ASPA aspartoacylase
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATRN attractin
BACE1 beta-site APP-cleaving enzyme 1
C3AR1 complement component 3a receptor 1
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CADM3 cell adhesion molecule 3
CANX calnexin
CCR10 chemokine (C-C motif) receptor 10
CD19 CD19 molecule
CD300LF CD300 molecule-like family member f
CD36 CD36 molecule (thrombospondin receptor)
CD4 CD4 molecule
CD86 CD86 molecule
CD8A CD8a molecule
CISD2 CDGSH iron sulfur domain 2
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CNTNAP1 contactin associated protein 1
COQ9 coenzyme Q9
CP ceruloplasmin (ferroxidase)
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL10 chemokine (C-X-C motif) ligand 10
CXCR2 chemokine (C-X-C motif) receptor 2
DDIT4 DNA-damage-inducible transcript 4
DST dystonin
EDARADD EDAR-associated death domain
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EGR2 early growth response 2
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
EPB41L3 erythrocyte membrane protein band 4.1-like 3
ERBB2IP erbb2 interacting protein
FA2H fatty acid 2-hydroxylase
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FGA fibrinogen alpha chain
FGD4 FYVE, RhoGEF and PH domain containing 4
FIG4 FIG4 phosphoinositide 5-phosphatase
FYN FYN proto-oncogene, Src family tyrosine kinase
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GAL3ST1 galactose-3-O-sulfotransferase 1
GALC galactosylceramidase
GARS glycyl-tRNA synthetase
GFAP glial fibrillary acidic protein
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GJC3 gap junction protein, gamma 3, 30.2kDa
GNPAT glyceronephosphate O-acyltransferase
GPR17 G protein-coupled receptor 17
GRID2 glutamate receptor, ionotropic, delta 2
HLA-A major histocompatibility complex, class I, A
HPN hepsin
HSPG2 heparan sulfate proteoglycan 2
IFNB1 interferon, beta 1, fibroblast
IFNGR1 interferon gamma receptor 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IL1B interleukin 1, beta
IL6ST interleukin 6 signal transducer
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KIF14 kinesin family member 14
LAMA2 laminin, alpha 2
LAMA4 laminin, alpha 4
LAMC1 laminin, gamma 1 (formerly LAMB2)
LARGE like-glycosyltransferase
LGI4 leucine-rich repeat LGI family, member 4
LINGO1 leucine rich repeat and Ig domain containing 1
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LPIN1 lipin 1
MAG myelin associated glycoprotein
MAL mal, T-cell differentiation protein
MAP1B microtubule-associated protein 1B
MBP myelin basic protein
MGAT5B mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B
MMP12 matrix metallopeptidase 12
MMP9 matrix metallopeptidase 9
MOBP myelin-associated oligodendrocyte basic protein
MPZ myelin protein zero
MTMR2 myotubularin related protein 2
NDRG1 N-myc downstream regulated 1
NEFM neurofilament, medium polypeptide
NKX6-2 NK6 homeobox 2
NPC1 Niemann-Pick disease, type C1
NRD1 nardilysin (N-arginine dibasic convertase)
NRG1 neuregulin 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PEX7 peroxisomal biogenesis factor 7
PITPNA phosphatidylinositol transfer protein, alpha
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
POU3F1 POU class 3 homeobox 1
PPARD peroxisome proliferator-activated receptor delta
PRF1 perforin 1 (pore forming protein)
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRX periaxin
PSAP prosaposin
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRE protein tyrosine phosphatase, receptor type, E
PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1
QKI QKI, KH domain containing, RNA binding
SCARB2 scavenger receptor class B, member 2
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SPTBN4 spectrin, beta, non-erythrocytic 4
STMN1 stathmin 1
TENM4 teneurin transmembrane protein 4
TERT telomerase reverse transcriptase
TG thyroglobulin
TLR2 toll-like receptor 2
TNFRSF21 tumor necrosis factor receptor superfamily, member 21
TPP1 tripeptidyl peptidase I
TYROBP TYRO protein tyrosine kinase binding protein
UGT8 UDP glycosyltransferase 8
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
ZNF24 zinc finger protein 24
ZNF365 zinc finger protein 365