lower limb hyperreflexia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002395
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Genes

13 genes associated with the lower limb hyperreflexia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AFG3L2 AFG3-like AAA ATPase 2
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
GJB1 gap junction protein, beta 1, 32kDa
KDM5C lysine (K)-specific demethylase 5C
LARGE like-glycosyltransferase
LBR lamin B receptor
PDE8B phosphodiesterase 8B
PSEN1 presenilin 1
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
SUMF1 sulfatase modifying factor 1
TREX1 three prime repair exonuclease 1