demyelination Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. (Human Phenotype Ontology, HP_0011096)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000921
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Genes

63 gene mutations causing the demyelination phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAM22 ADAM metallopeptidase domain 22
AIRE autoimmune regulator
ARSA arylsulfatase A
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
BACE1 beta-site APP-cleaving enzyme 1
C3AR1 complement component 3a receptor 1
CANX calnexin
CD19 CD19 molecule
CD300LF CD300 molecule-like family member f
CD4 CD4 molecule
CD86 CD86 molecule
CD8A CD8a molecule
CISD2 CDGSH iron sulfur domain 2
COQ9 coenzyme Q9
CP ceruloplasmin (ferroxidase)
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL10 chemokine (C-X-C motif) ligand 10
DST dystonin
EDARADD EDAR-associated death domain
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
FA2H fatty acid 2-hydroxylase
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FGD4 FYVE, RhoGEF and PH domain containing 4
FIG4 FIG4 phosphoinositide 5-phosphatase
GALC galactosylceramidase
GARS glycyl-tRNA synthetase
GJB1 gap junction protein, beta 1, 32kDa
GJC3 gap junction protein, gamma 3, 30.2kDa
HLA-A major histocompatibility complex, class I, A
HSPG2 heparan sulfate proteoglycan 2
IFNB1 interferon, beta 1, fibroblast
KIF14 kinesin family member 14
LAMA2 laminin, alpha 2
LAMC1 laminin, gamma 1 (formerly LAMB2)
LGI4 leucine-rich repeat LGI family, member 4
LITAF lipopolysaccharide-induced TNF factor
LPIN1 lipin 1
MAG myelin associated glycoprotein
MBP myelin basic protein
MGAT5B mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B
MPZ myelin protein zero
NDRG1 N-myc downstream regulated 1
NPC1 Niemann-Pick disease, type C1
PEX7 peroxisomal biogenesis factor 7
PITPNA phosphatidylinositol transfer protein, alpha
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PRF1 perforin 1 (pore forming protein)
PSAP prosaposin
PTPRE protein tyrosine phosphatase, receptor type, E
SCARB2 scavenger receptor class B, member 2
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
STMN1 stathmin 1
TENM4 teneurin transmembrane protein 4
TERT telomerase reverse transcriptase
TPP1 tripeptidyl peptidase I
UGT8 UDP glycosyltransferase 8
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)