paralysis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. (Human Phenotype Ontology, HP_0003470)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003470
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Genes

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

Symbol Name
ALAD aminolevulinate dehydratase
ALOX12B arachidonate 12-lipoxygenase, 12R type
CA2 carbonic anhydrase II
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
GM2A GM2 ganglioside activator
HMBS hydroxymethylbilane synthase
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
PDCD10 programmed cell death 10
POLG polymerase (DNA directed), gamma
SCN4A sodium channel, voltage gated, type IV alpha subunit
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)