abnormal myelin sheath morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the insulating envelope that surrounds nerve fibers or axons (Mammalian Phenotype Ontology, MP_0003871)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003871
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48 gene mutations causing the abnormal myelin sheath morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2
AFG3L2 AFG3-like AAA ATPase 2
APOE apolipoprotein E
BACE1 beta-site APP-cleaving enzyme 1
CANX calnexin
CCR10 chemokine (C-C motif) receptor 10
CD86 CD86 molecule
CERS2 ceramide synthase 2
CLCN2 chloride channel, voltage-sensitive 2
CLDN11 claudin 11
CNTF ciliary neurotrophic factor
CNTNAP1 contactin associated protein 1
DST dystonin
ERBB2IP erbb2 interacting protein
FA2H fatty acid 2-hydroxylase
FGD4 FYVE, RhoGEF and PH domain containing 4
FIG4 FIG4 phosphoinositide 5-phosphatase
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GALC galactosylceramidase
GAN gigaxonin
GJB1 gap junction protein, beta 1, 32kDa
GPM6B glycoprotein M6B
HSPG2 heparan sulfate proteoglycan 2
KEL Kell blood group, metallo-endopeptidase
LAMA4 laminin, alpha 4
LEPR leptin receptor
LGI4 leucine-rich repeat LGI family, member 4
LPAR5 lysophosphatidic acid receptor 5
LPIN1 lipin 1
MAG myelin associated glycoprotein
MBP myelin basic protein
MPZ myelin protein zero
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
NEFM neurofilament, medium polypeptide
NFE2L2 nuclear factor, erythroid 2-like 2
NRD1 nardilysin (N-arginine dibasic convertase)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PSAP prosaposin
QKI QKI, KH domain containing, RNA binding
SBF2 SET binding factor 2
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
TLR4 toll-like receptor 4
XK X-linked Kx blood group
ZNF24 zinc finger protein 24