spastic tetraparesis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Spastic weakness affecting all four limbs. (Human Phenotype Ontology, HP_0001285)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001285
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Genes

14 genes associated with the spastic tetraparesis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
FA2H fatty acid 2-hydroxylase
GSS glutathione synthetase
IFIH1 interferon induced with helicase C domain 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
L2HGDH L-2-hydroxyglutarate dehydrogenase
LYRM7 LYR motif containing 7
MOCS1 molybdenum cofactor synthesis 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PSAP prosaposin
PSEN1 presenilin 1
STAMBP STAM binding protein
WDR62 WD repeat domain 62