decreased number of peripheral myelinated nerve fibers Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). (Human Phenotype Ontology, HP_0003380)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003380
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Genes

31 genes associated with the decreased number of peripheral myelinated nerve fibers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
APTX aprataxin
DHH desert hedgehog
DNM2 dynamin 2
DNMT1 DNA (cytosine-5-)-methyltransferase 1
EGR2 early growth response 2
FGD4 FYVE, RhoGEF and PH domain containing 4
GAN gigaxonin
GDAP1 ganglioside induced differentiation associated protein 1
GJB1 gap junction protein, beta 1, 32kDa
HK1 hexokinase 1
HSPB8 heat shock 22kDa protein 8
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
KIF1B kinesin family member 1B
LMNA lamin A/C
MFN2 mitofusin 2
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
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
PRX periaxin
RAB7A RAB7A, member RAS oncogene family
SACS sacsin molecular chaperone
SBF2 SET binding factor 2
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SPG11 spastic paraplegia 11 (autosomal recessive)
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
TFG TRK-fused gene
TRIM2 tripartite motif containing 2
WNK1 WNK lysine deficient protein kinase 1
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