hereditary spastic paraplegia Gene Set

Dataset DISEASES Text-mining 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)
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Genes

179 genes co-occuring with the disease hereditary spastic paraplegia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
SPAST spastin 3.59785
ATL1 atlastin GTPase 1 2.83474
SPG11 spastic paraplegia 11 (autosomal recessive) 2.80904
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 2.63577
REEP1 receptor accessory protein 1 2.42427
KIF5A kinesin family member 5A 2.33291
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 2.29202
ZFYVE27 zinc finger, FYVE domain containing 27 2.18606
KIAA0196 KIAA0196 2.14532
ZFYVE26 zinc finger, FYVE domain containing 26 2.14175
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome) 2.13215
SPG20 spastic paraplegia 20 (Troyer syndrome) 2.11
AFG3L2 AFG3-like AAA ATPase 2 1.8839
RTN2 reticulon 2 1.86369
ALS2 amyotrophic lateral sclerosis 2 (juvenile) 1.85456
IFT122 intraflagellar transport 122 1.72775
REEP2 receptor accessory protein 2 1.67729
DDHD2 DDHD domain containing 2 1.67186
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 1.6678
FA2H fatty acid 2-hydroxylase 1.56755
CCDC62 coiled-coil domain containing 62 1.53877
SNX15 sorting nexin 15 1.51721
PNPLA6 patatin-like phospholipase domain containing 6 1.49394
DDHD1 DDHD domain containing 1 1.46232
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit 1.43376
GJC2 gap junction protein, gamma 2, 47kDa 1.3773
CCDC53 coiled-coil domain containing 53 1.34635
L1CAM L1 cell adhesion molecule 1.33545
KIF5C kinesin family member 5C 1.33283
ERLIN2 ER lipid raft associated 2 1.30969
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) 1.28479
AP4B1 adaptor-related protein complex 4, beta 1 subunit 1.24211
EXOSC3 exosome component 3 1.23516
PNPLA7 patatin-like phospholipase domain containing 7 1.22345
DYNC1LI2 dynein, cytoplasmic 1, light intermediate chain 2 1.22172
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1 1.21738
AP5M1 adaptor-related protein complex 5, mu 1 subunit 1.21045
KIF1C kinesin family member 1C 1.20569
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1 1.19489
PI4K2A phosphatidylinositol 4-kinase type 2 alpha 1.18195
KIF1A kinesin family member 1A 1.1798
MYO1H myosin IH 1.17851
SLC30A6 solute carrier family 30 (zinc transporter), member 6 1.17078
GBA2 glucosidase, beta (bile acid) 2 1.16949
SURF4 surfeit 4 1.16093
TMCO5A transmembrane and coiled-coil domains 5A 1.16093
HSPD1 heat shock 60kDa protein 1 (chaperonin) 1.14602
RTN1 reticulon 1 1.13078
PLP1 proteolipid protein 1 1.12319
C15ORF41 chromosome 15 open reading frame 41 1.11814
SNX7 sorting nexin 7 1.11141
C15ORF53 chromosome 15 open reading frame 53 1.10258
VPS29 vacuolar protein sorting 29 homolog (S. cerevisiae) 1.0585
WASH1 WAS protein family homolog 1 1.05681
RPS6KC1 ribosomal protein S6 kinase, 52kDa, polypeptide 1 1.04714
DNAH8 dynein, axonemal, heavy chain 8 1.04714
KIF13B kinesin family member 13B 1.04588
EEA1 early endosome antigen 1 1.03788
REEP6 receptor accessory protein 6 1.02819
PNPLA1 patatin-like phospholipase domain containing 1 1.02313
ALDH16A1 aldehyde dehydrogenase 16 family, member A1 1.0168
VPS4A vacuolar protein sorting 4 homolog A (S. cerevisiae) 1.00035
KIF5B kinesin family member 5B 0.984321
IFT81 intraflagellar transport 81 0.97338
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 0.961634
ATXN3 ataxin 3 0.93497
HSPE1 heat shock 10kDa protein 1 0.921323
KIAA1033 KIAA1033 0.919261
PIKFYVE phosphoinositide kinase, FYVE finger containing 0.912668
MAPRE3 microtubule-associated protein, RP/EB family, member 3 0.908965
GBP3 guanylate binding protein 3 0.892538
KATNA1 katanin p60 (ATPase containing) subunit A 1 0.881062
AP4S1 adaptor-related protein complex 4, sigma 1 subunit 0.870415
ZNF512B zinc finger protein 512B 0.866321
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.864274
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae) 0.85404
VCP valosin containing protein 0.84544
WASH7P WAS protein family homolog 7 pseudogene 0.834378
WASH6P WAS protein family homolog 6 pseudogene 0.827819
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit 0.821257
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 0.815514
NIPAL4 NIPA-like domain containing 4 0.804026
CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) 0.798282
RAB11B RAB11B, member RAS oncogene family 0.793771
RNASEH2B ribonuclease H2, subunit B 0.769618
SEMA6D sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 0.765943
BICD2 bicaudal D homolog 2 (Drosophila) 0.762678
RAB43 RAB43, member RAS oncogene family 0.759824
HSPB8 heat shock 22kDa protein 8 0.74761
DCTN1 dynactin 1 0.745172
MFN2 mitofusin 2 0.74436
AP4M1 adaptor-related protein complex 4, mu 1 subunit 0.716828
UBE3B ubiquitin protein ligase E3B 0.713601
FNDC3A fibronectin type III domain containing 3A 0.694702
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 0.686291
SACS sacsin molecular chaperone 0.662387
VPS4B vacuolar protein sorting 4 homolog B (S. cerevisiae) 0.632777
CNTLN centlein, centrosomal protein 0.626888
RTN3 reticulon 3 0.623751
CCS copper chaperone for superoxide dismutase 0.615529
NKX1-1 NK1 homeobox 1 0.615529
ATP2B4 ATPase, Ca++ transporting, plasma membrane 4 0.615138
ARL2 ADP-ribosylation factor-like 2 0.594843
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) 0.581606
SSNA1 Sjogren syndrome nuclear autoantigen 1 0.574994
CKAP4 cytoskeleton-associated protein 4 0.574217
KTN1 kinectin 1 (kinesin receptor) 0.568386
SETX senataxin 0.56722
C19ORF12 chromosome 19 open reading frame 12 0.566443
CHD8 chromodomain helicase DNA binding protein 8 0.558285
MAP1A microtubule-associated protein 1A 0.557509
TTBK2 tau tubulin kinase 2 0.55518
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit 0.552075
MEIS2 Meis homeobox 2 0.530381
WWP1 WW domain containing E3 ubiquitin protein ligase 1 0.524974
ATL2 atlastin GTPase 2 0.522273
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 0.51188
BHLHE22 basic helix-loop-helix family, member e22 0.508041
CACNB4 calcium channel, voltage-dependent, beta 4 subunit 0.504973
SUB1 SUB1 homolog (S. cerevisiae) 0.50459
FEZF2 FEZ family zinc finger 2 0.500761
AUTS2 autism susceptibility candidate 2 0.491978
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 0.485885
ATXN2 ataxin 2 0.477909
ITCH itchy E3 ubiquitin protein ligase 0.464283
UNC5C unc-5 homolog C (C. elegans) 0.460506
HSPB1 heat shock 27kDa protein 1 0.445429
PLIN3 perilipin 3 0.443547
TBR1 T-box, brain, 1 0.442795
CAPN1 calpain 1, (mu/I) large subunit 0.427015
IMPACT impact RWD domain protein 0.426265
TPPP tubulin polymerization promoting protein 0.397843
SPTLC1 serine palmitoyltransferase, long chain base subunit 1 0.390025
IGF2R insulin-like growth factor 2 receptor 0.389281
CHRM1 cholinergic receptor, muscarinic 1 0.378143
PLIN2 perilipin 2 0.374068
RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated) 0.366671
TUBA1A tubulin, alpha 1a 0.357446
KCNJ3 potassium channel, inwardly rectifying subfamily J, member 3 0.357077
UBQLN2 ubiquilin 2 0.355235
EPS15 epidermal growth factor receptor pathway substrate 15 0.354131
PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 0.353763
SPTBN2 spectrin, beta, non-erythrocytic 2 0.353763
AATF apoptosis antagonizing transcription factor 0.352659
PLEK pleckstrin 0.349717
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae) 0.344574
SATB2 SATB homeobox 2 0.344207
GCH1 GTP cyclohydrolase 1 0.338341
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 0.33651
SPRED1 sprouty-related, EVH1 domain containing 1 0.333949
LITAF lipopolysaccharide-induced TNF factor 0.320817
GPHN gephyrin 0.32009
C9ORF72 chromosome 9 open reading frame 72 0.318635
GARS glycyl-tRNA synthetase 0.315366
DNM1 dynamin 1 0.312102
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) 0.299812
IGHMBP2 immunoglobulin mu binding protein 2 0.27794
MFN1 mitofusin 1 0.267622
YME1L1 YME1-like 1 ATPase 0.249608
EPHB3 EPH receptor B3 0.243645
GDAP1 ganglioside induced differentiation associated protein 1 0.233878
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.23353
APTX aprataxin 0.219057
NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 0.218715
F12 coagulation factor XII (Hageman factor) 0.212608
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 0.207245
ARSA arylsulfatase A 0.204923
TFG TRK-fused gene 0.1936
ATXN7 ataxin 7 0.192344
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) 0.192344
SORT1 sortilin 1 0.192031
MCF2 MCF.2 cell line derived transforming sequence 0.187719
IMMT inner membrane protein, mitochondrial 0.175947
CDK5 cyclin-dependent kinase 5 0.173314
KIF1B kinesin family member 1B 0.170054
PNPLA2 patatin-like phospholipase domain containing 2 0.170054
ATP7A ATPase, Cu++ transporting, alpha polypeptide 0.167915
TCF4 transcription factor 4 0.167682
MAP1B microtubule-associated protein 1B 0.160203