abnormal peripheral myelination Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. (Human Phenotype Ontology, HP_0003130)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003130
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63 genes associated with the abnormal peripheral myelination phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
APTX aprataxin
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10
ARSA arylsulfatase A
ASXL1 additional sex combs like transcriptional regulator 1
C12ORF65 chromosome 12 open reading frame 65
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
DCAF8 DDB1 and CUL4 associated factor 8
DHH desert hedgehog
DNM2 dynamin 2
DNMT1 DNA (cytosine-5-)-methyltransferase 1
EGR2 early growth response 2
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FGD4 FYVE, RhoGEF and PH domain containing 4
FIG4 FIG4 phosphoinositide 5-phosphatase
GALC galactosylceramidase
GAN gigaxonin
GCDH glutaryl-CoA dehydrogenase
GDAP1 ganglioside induced differentiation associated protein 1
GJB1 gap junction protein, beta 1, 32kDa
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
HK1 hexokinase 1
HSPB8 heat shock 22kDa protein 8
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INF2 inverted formin, FH2 and WH2 domain containing
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KIF1B kinesin family member 1B
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LMNB1 lamin B1
LRPPRC leucine-rich pentatricopeptide repeat containing
MAT1A methionine adenosyltransferase I, alpha
MFN2 mitofusin 2
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MTMR2 myotubularin related protein 2
MTTP microsomal triglyceride transfer protein
NDRG1 N-myc downstream regulated 1
NEFL neurofilament, light polypeptide
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PMP22 peripheral myelin protein 22
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
PSAP prosaposin
RAB7A RAB7A, member RAS oncogene family
SACS sacsin molecular chaperone
SBF1 SET binding factor 1
SBF2 SET binding factor 2
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SOX10 SRY (sex determining region Y)-box 10
SPG11 spastic paraplegia 11 (autosomal recessive)
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SUMF1 sulfatase modifying factor 1
TFG TRK-fused gene
TREM2 triggering receptor expressed on myeloid cells 2
TRIM2 tripartite motif containing 2
TYROBP TYRO protein tyrosine kinase binding protein
WNK1 WNK lysine deficient protein kinase 1