peripheral demyelination Gene Set

Dataset HPO Gene-Disease 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://compbio.charite.de/hpoweb/showterm?id=HP:0011096
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Genes

30 genes associated with the peripheral demyelination 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
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10
ARSA arylsulfatase A
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
DNM2 dynamin 2
EGR2 early growth response 2
FGD4 FYVE, RhoGEF and PH domain containing 4
GALC galactosylceramidase
GCDH glutaryl-CoA dehydrogenase
GDAP1 ganglioside induced differentiation associated protein 1
LITAF lipopolysaccharide-induced TNF factor
LMNB1 lamin B1
LRPPRC leucine-rich pentatricopeptide repeat containing
MAT1A methionine adenosyltransferase I, alpha
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPZ myelin protein zero
MTTP microsomal triglyceride transfer protein
NDRG1 N-myc downstream regulated 1
NEFL neurofilament, light polypeptide
PMP22 peripheral myelin protein 22
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
PSAP prosaposin
SBF2 SET binding factor 2
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SOX10 SRY (sex determining region Y)-box 10
SUMF1 sulfatase modifying factor 1
TREM2 triggering receptor expressed on myeloid cells 2
TYROBP TYRO protein tyrosine kinase binding protein