hereditary spastic paraplegia Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. (Human Disease Ontology, DOID_2476)
Similar Terms
Downloads & Tools

Genes

41 genes involed in the disease hereditary spastic paraplegia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AMPD2 adenosine monophosphate deaminase 2
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit
ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1
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
C19ORF12 chromosome 19 open reading frame 12
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
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
ERLIN2 ER lipid raft associated 2
FA2H fatty acid 2-hydroxylase
GBA2 glucosidase, beta (bile acid) 2
GJC2 gap junction protein, gamma 2, 47kDa
HSPD1 heat shock 60kDa protein 1 (chaperonin)
KIAA0196 KIAA0196
KIF1A kinesin family member 1A
KIF5A kinesin family member 5A
L1CAM L1 cell adhesion molecule
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NT5C2 5'-nucleotidase, cytosolic II
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PLP1 proteolipid protein 1
PNPLA6 patatin-like phospholipase domain containing 6
REEP1 receptor accessory protein 1
REEP2 receptor accessory protein 2
RTN2 reticulon 2
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)
TECPR2 tectonin beta-propeller repeat containing 2
TFG TRK-fused gene
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
ZFYVE26 zinc finger, FYVE domain containing 26
ZFYVE27 zinc finger, FYVE domain containing 27