abnormal brain white matter morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites (Mammalian Phenotype Ontology, MP_0008026)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008026
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Genes

140 gene mutations causing the abnormal brain white matter morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABI2 abl-interactor 2
AKT3 v-akt murine thymoma viral oncogene homolog 3
ANK2 ankyrin 2, neuronal
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
APP amyloid beta (A4) precursor protein
ARHGAP35 Rho GTPase activating protein 35
ARHGAP5 Rho GTPase activating protein 5
ARSA arylsulfatase A
ARX aristaless related homeobox
ATCAY ataxia, cerebellar, Cayman type
ATOH7 atonal homolog 7 (Drosophila)
ATR ATR serine/threonine kinase
ATRN attractin
BHLHE22 basic helix-loop-helix family, member e22
CABLES1 Cdk5 and Abl enzyme substrate 1
CACNB3 calcium channel, voltage-dependent, beta 3 subunit
CANX calnexin
CASP9 caspase 9, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CD81 CD81 molecule
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CERS2 ceramide synthase 2
CHD7 chromodomain helicase DNA binding protein 7
CLCN2 chloride channel, voltage-sensitive 2
CLIP2 CAP-GLY domain containing linker protein 2
CNTNAP2 contactin associated protein-like 2
COMMD3-BMI1 COMMD3-BMI1 readthrough
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DCC DCC netrin 1 receptor
DCLK1 doublecortin-like kinase 1
DHCR7 7-dehydrocholesterol reductase
DRAXIN dorsal inhibitory axon guidance protein
EBF1 early B-cell factor 1
EFNB1 ephrin-B1
EFNB2 ephrin-B2
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
EIF4H eukaryotic translation initiation factor 4H
EMX1 empty spiracles homeobox 1
EMX2 empty spiracles homeobox 2
EN1 engrailed homeobox 1
ENAH enabled homolog (Drosophila)
EPHA4 EPH receptor A4
EPHB1 EPH receptor B1
EPHB2 EPH receptor B2
FBXO45 F-box protein 45
FEZF2 FEZ family zinc finger 2
FGF2 fibroblast growth factor 2 (basic)
FGFR2 fibroblast growth factor receptor 2
FOXC1 forkhead box C1
FYN FYN proto-oncogene, Src family tyrosine kinase
FZD3 frizzled class receptor 3
GALC galactosylceramidase
GAP43 growth associated protein 43
GFAP glial fibrillary acidic protein
GJC2 gap junction protein, gamma 2, 47kDa
GLI3 GLI family zinc finger 3
HESX1 HESX homeobox 1
HSF1 heat shock transcription factor 1
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HTT huntingtin
ISLR2 immunoglobulin superfamily containing leucine-rich repeat 2
ITSN1 intersectin 1 (SH3 domain protein)
KCNN2 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2
KIF1B kinesin family member 1B
KLC1 kinesin light chain 1
KLF7 Kruppel-like factor 7 (ubiquitous)
LHX5 LIM homeobox 5
LRP2 low density lipoprotein receptor-related protein 2
LYNX1 Ly6/neurotoxin 1
MAN2C1 mannosidase, alpha, class 2C, member 1
MAP1B microtubule-associated protein 1B
MAP3K12 mitogen-activated protein kinase kinase kinase 12
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MARCH7 membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase
MARCKS myristoylated alanine-rich protein kinase C substrate
MARCKSL1 MARCKS-like 1
MID1 midline 1
MSI1 musashi RNA-binding protein 1
MSX1 msh homeobox 1
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NFIA nuclear factor I/A
NFIB nuclear factor I/B
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NOS2 nitric oxide synthase 2, inducible
NPAS3 neuronal PAS domain protein 3
NPC1 Niemann-Pick disease, type C1
NR2E1 nuclear receptor subfamily 2, group E, member 1
NR2F1 nuclear receptor subfamily 2, group F, member 1
NRP1 neuropilin 1
NRP2 neuropilin 2
NTN1 netrin 1
PAX2 paired box 2
PAX6 paired box 6
PEX2 peroxisomal biogenesis factor 2
PFDN1 prefoldin subunit 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLP1 proteolipid protein 1
PLXNA4 plexin A4
PRDM8 PR domain containing 8
PRNP prion protein
PSAP prosaposin
PTPN9 protein tyrosine phosphatase, non-receptor type 9
PURA purine-rich element binding protein A
QKI QKI, KH domain containing, RNA binding
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila)
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
RPGRIP1L RPGRIP1-like
SEMA3B sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B
SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3
SUZ12 SUZ12 polycomb repressive complex 2 subunit
TERT telomerase reverse transcriptase
TMEM67 transmembrane protein 67
TOR1A torsin family 1, member A (torsin A)
TSKU tsukushi, small leucine rich proteoglycan
TTL tubulin tyrosine ligase
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
ULK4 unc-51 like kinase 4
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VANGL2 VANGL planar cell polarity protein 2
VAX1 ventral anterior homeobox 1
WASF1 WAS protein family, member 1
WDR47 WD repeat domain 47
WNT1 wingless-type MMTV integration site family, member 1
ZDHHC13 zinc finger, DHHC-type containing 13
ZDHHC17 zinc finger, DHHC-type containing 17
ZIC2 Zic family member 2
ZNF423 zinc finger protein 423