lower limb spasticity Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis (Human Phenotype Ontology, HP_0002061)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002061
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Genes

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

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
AFG3L2 AFG3-like AAA ATPase 2
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit
ARX aristaless related homeobox
ATL1 atlastin GTPase 1
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C12ORF65 chromosome 12 open reading frame 65
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
COASY CoA synthase
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DDHD1 DDHD domain containing 1
DDHD2 DDHD domain containing 2
EDNRB endothelin receptor type B
ERLIN2 ER lipid raft associated 2
FA2H fatty acid 2-hydroxylase
FBXO7 F-box protein 7
GAN gigaxonin
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GJC2 gap junction protein, gamma 2, 47kDa
HSPD1 heat shock 60kDa protein 1 (chaperonin)
KDM5C lysine (K)-specific demethylase 5C
KIAA0196 KIAA0196
KIF1A kinesin family member 1A
KIF5A kinesin family member 5A
L1CAM L1 cell adhesion molecule
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MTPAP mitochondrial poly(A) polymerase
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NT5C2 5'-nucleotidase, cytosolic II
PAX3 paired box 3
PDHX pyruvate dehydrogenase complex, component X
PLP1 proteolipid protein 1
PNPLA6 patatin-like phospholipase domain containing 6
RARS2 arginyl-tRNA synthetase 2, mitochondrial
REEP1 receptor accessory protein 1
RTN2 reticulon 2
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC30A10 solute carrier family 30, member 10
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SOX10 SRY (sex determining region Y)-box 10
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
STXBP1 syntaxin binding protein 1
TTC19 tetratricopeptide repeat domain 19
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
WDR45 WD repeat domain 45
ZFYVE26 zinc finger, FYVE domain containing 26
ZFYVE27 zinc finger, FYVE domain containing 27