areflexia of lower limbs Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Inability to elicit tendon reflexes in the lower limbs. (Human Phenotype Ontology, HP_0002522)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002522
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Genes

15 genes associated with the areflexia of lower limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATXN3 ataxin 3
DYSF dysferlin
FXN frataxin
GAN gigaxonin
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
LIFR leukemia inhibitory factor receptor alpha
MYOT myotilin
ORAI1 ORAI calcium release-activated calcium modulator 1
PRPS1 phosphoribosyl pyrophosphate synthetase 1
SACS sacsin molecular chaperone
SMN1 survival of motor neuron 1, telomeric
STIM1 stromal interaction molecule 1
TCAP titin-cap