spastic paraplegia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Spasticity and weakness of the leg and hip muscles. (Human Phenotype Ontology, HP_0001258)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001258
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Genes

31 genes associated with the spastic paraplegia 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
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
C12ORF65 chromosome 12 open reading frame 65
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
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
GAN gigaxonin
HSPD1 heat shock 60kDa protein 1 (chaperonin)
KDM5C lysine (K)-specific demethylase 5C
KIAA0196 KIAA0196
L1CAM L1 cell adhesion molecule
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
PAX3 paired box 3
PDHX pyruvate dehydrogenase complex, component X
PLP1 proteolipid protein 1
PNPLA6 patatin-like phospholipase domain containing 6
REEP1 receptor accessory protein 1
RTN2 reticulon 2
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
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
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
ZFYVE26 zinc finger, FYVE domain containing 26