steppage gait Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. (Human Phenotype Ontology, HP_0003376)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003376
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Genes

23 genes associated with the steppage gait phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
C12ORF65 chromosome 12 open reading frame 65
DCAF8 DDB1 and CUL4 associated factor 8
EGR2 early growth response 2
FHL1 four and a half LIM domains 1
GAN gigaxonin
GDAP1 ganglioside induced differentiation associated protein 1
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
KIF1B kinesin family member 1B
LMNA lamin A/C
MFN2 mitofusin 2
MPZ myelin protein zero
NEFL neurofilament, light polypeptide
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PMP22 peripheral myelin protein 22
POLG polymerase (DNA directed), gamma
PRX periaxin
RAB7A RAB7A, member RAS oncogene family
SBF2 SET binding factor 2
TDP1 tyrosyl-DNA phosphodiesterase 1
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TTN titin