Spastic Tetraparesis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Spastic weakness affecting all four limbs. (Human Phenotype Ontology, HP_0001285)
External Link https://www.disgenet.org/browser/0/1/0/C0575059
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Genes

50 genes associated with the disease Spastic Tetraparesis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ADAR adenosine deaminase, RNA-specific
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
APOPT1 apoptogenic 1, mitochondrial
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
AUH AU RNA binding protein/enoyl-CoA hydratase
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DNER delta/notch-like EGF repeat containing
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa
ERLIN2 ER lipid raft associated 2
EXOSC8 exosome component 8
FA2H fatty acid 2-hydroxylase
GM2A GM2 ganglioside activator
GSS glutathione synthetase
IFIH1 interferon induced with helicase C domain 1
ITM2B integral membrane protein 2B
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
L2HGDH L-2-hydroxyglutarate dehydrogenase
LIPT1 lipoyltransferase 1
LIPT2 lipoyl(octanoyl) transferase 2 (putative)
LYRM7 LYR motif containing 7
MECP2 methyl CpG binding protein 2
MFSD2A major facilitator superfamily domain containing 2A
MOCS1 molybdenum cofactor synthesis 1
MT-ATP6 ATP synthase F0 subunit 6
NUP62 nucleoporin 62kDa
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PCYT2 phosphate cytidylyltransferase 2, ethanolamine
PNP purine nucleoside phosphorylase
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
PRDM8 PR domain containing 8
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRUNE1 prune exopolyphosphatase 1
PSAP prosaposin
PSAT1 phosphoserine aminotransferase 1
PSEN1 presenilin 1
REEP1 receptor accessory protein 1
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
STAMBP STAM binding protein
TBCE tubulin folding cofactor E
TRAPPC4 trafficking protein particle complex 4
WDR62 WD repeat domain 62