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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hereditary spastic paraplegia
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Accession:DOID:2476 term browser browse the term
Definition:A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. (DO)
Synonyms:exact_synonym: CMT with Pyramidal Features;   Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant;   French settlement disease;   HMSN 5;   HMSN Type V;   HMSN V;   HMSN V (Hereditary Motor and Sensory Neuropathy Type V);   Hereditary Motor And Sensory Neuropathy V;   Hereditary Motor Sensory Neuropathy with Pyramidal Signs;   Hereditary Motor and Sensory Neuropathy 5;   Hereditary X Linked Recessive Spastic Paraplegia;   Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia;   Strumpell-Lorrain disease;   familial spastic paraplegia;   hereditary motor and sensory neuropathy type V;   hereditary spastic paraparesis;   hereditary spastic paraplegias;   peroneal muscular atrophy with pyramidal features, autosomal dominant;   pure or complex autosomal recessive spastic paraplegia
 narrow_synonym: Autosomal Recessive Hereditary Spastic Paraplegia;   COMPLEX HEREDITARY SPASTIC PARAPLEGIA;   Dominant Spastic Paraplegia;   X-linked hereditary spastic paraplegia;   autosomal dominant hereditary spastic paraplegia;   autosomal recessive complex spastic paraplegia;   recessive spastic paraplegia
 xref: EFO:0000529;   GARD:6637;   ICD9CM:334.1;   MESH:D015419;   MIM:PS303350;   MONDO:0019064;   NCI:C140267
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hereditary spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Complex hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927 		JBrowse link
G Adam28 ADAM metallopeptidase domain 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr15:43,774,463...43,840,726
Ensembl chr15:42,944,467...43,840,672 		JBrowse link
G Adgrb2 adhesion G protein-coupled receptor B2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 5:142,299,190...142,362,540
Ensembl chr 5:142,331,329...142,362,540 		JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Hereditary spastic paraplegia		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:26026163 RGD:13434921 NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:14676054 PMID:17576681 PMID:18852346 PMID:20077034 More... NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271 		JBrowse link
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 More... NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531 		JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:26350204 PMID:26544806 PMID:28492532 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752 		JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:24700674 More... NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026 		JBrowse link
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:26350204 PMID:28492532 NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496 		JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28832565 NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO DNA:mutations: :
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24833714 More... RGD:9684952 NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511 		JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28832565 NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524 		JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860 		JBrowse link
G Arsi arylsulfatase family, member I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr18:54,364,160...54,371,772
Ensembl chr18:54,364,088...54,371,767 		JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:15596607 More... NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204 		JBrowse link
G B3gnt7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:86,956,220...86,960,171
Ensembl chr 9:86,956,220...86,960,170 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23664116 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28492532 More... NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 ISS MouseDO NCBI chr 1:245,564,347...245,578,182
Ensembl chr 1:245,564,369...245,579,343 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO SPG17, OMIM:270685, DNA:point mutation:exon:N88S
ClinVar Annotator: match by term: Hereditary spastic paraplegia		 ClinVar
RGD		 PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 More... RGD:1600602 NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21981780 PMID:23269600 PMID:24361204 PMID:25558065 PMID:25741868 More... NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208 		JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 2:82,591,750...82,602,903
Ensembl chr 2:82,590,630...82,602,930 		JBrowse link
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177 		JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:14660610 PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 More... NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 2:102,419,011...102,586,047
Ensembl chr 2:100,502,791...100,669,698 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423 		JBrowse link
G Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:23176821 PMID:24989667 PMID:25741868 PMID:26637979 PMID:26944165 More... NCBI chr15:18,824,389...18,891,036
Ensembl chr15:18,824,394...18,890,952 		JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:23176823 PMID:24337409 PMID:24517879 More... NCBI chr16:73,022,136...73,051,746
Ensembl chr16:66,319,466...66,349,023 		JBrowse link
G Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 5:154,073,372...154,106,246
Ensembl chr 5:154,075,261...154,106,136 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317 		JBrowse link
G Erlin1 ER lipid raft associated 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:242,921,147...242,956,472
Ensembl chr 1:242,921,152...242,956,394 		JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:28832565 PMID:29528531 More... NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:18414213 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25356970 More... NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:204,275,785...204,292,844
Ensembl chr 1:204,275,367...204,353,750 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:20593214 PMID:23332916 PMID:23332917 PMID:25741868 PMID:26220345 More... NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18094336 PMID:20442743 PMID:21959080 PMID:22351697 PMID:22833003 More... NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 susceptibility ISO DNA:missense mutation: :p.V72I
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 ClinVar
RGD		 PMID:11898127 PMID:17072495 PMID:18414213 PMID:19423133 PMID:19494379 More... RGD:1624200, RGD:1624200 NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kif1a kinesin family member 1A ISO DNA:missense mutations: :p.V8M, p.I27T (human)
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:21376300 PMID:22258533 PMID:25265257 More... RGD:12911231 NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26633545 More... NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:15452312 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 More... NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:103,086,959...103,126,305
Ensembl chr 8:103,086,630...103,126,024 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9195224 PMID:9268105 PMID:10797421 PMID:11438988 PMID:11772994 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578 		JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:204,246,238...204,387,027
Ensembl chr 1:204,246,166...204,389,716 		JBrowse link
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 PMID:31402626 PMID:32629324 More... NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28832565 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258 		JBrowse link
G Myt1 myelin transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 3:168,890,466...168,950,341
Ensembl chr 3:168,886,089...168,950,341 		JBrowse link
G Ncl nucleolin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:86,999,588...87,008,112
Ensembl chr 9:86,998,019...87,008,136 		JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 More... NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790 		JBrowse link
G Nmur1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:87,033,231...87,038,070
Ensembl chr 9:87,033,279...87,036,684 		JBrowse link
G Npr3 natriuretic peptide receptor 3 ISO ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:28492532 NCBI chr 2:60,865,483...60,933,432
Ensembl chr 2:60,870,594...60,932,955 		JBrowse link
G Nrg1 neuregulin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464 		JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10319897 PMID:15712223 PMID:24019930 PMID:25741868 PMID:26125040 More... NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 CTD
ClinVar		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20382209 PMID:20603202 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia		 ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10319897 PMID:15712223 PMID:24019930 PMID:25741868 PMID:26125040 More... NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:16199547 PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 More... NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338 		JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 2:76,335,609...76,474,817
Ensembl chr 2:76,335,609...76,493,898 		JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia		 ClinVar PMID:8472930 PMID:10610707 PMID:10655055 PMID:11788093 PMID:14718706 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:9536098 PMID:17096168 PMID:17159128 PMID:17576681 PMID:18058631 More... NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:20301789 PMID:23568789 PMID:24265446 PMID:24721225 More... NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:24215330 PMID:24583203 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758 		JBrowse link
G Snora75 small nucleolar RNA, H/ACA box 75 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:87,000,248...87,000,384
Ensembl chr 9:87,000,248...87,000,384 		JBrowse link
G Snord20 small nucleolar RNA, C/D box 20 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:87,001,068...87,001,147
Ensembl chr 9:87,001,068...87,001,147 		JBrowse link
G Snord82 small nucleolar RNA, C/D box 82 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:87,004,515...87,004,586
Ensembl chr 9:87,004,515...87,004,586 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Complex hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513 		JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
ClinVar Annotator: match by term: Autosomal dominant hereditary spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia		 ClinVar PMID:9536098 PMID:10610178 PMID:10699187 PMID:11015453 PMID:11039577 More... NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Complex hereditary spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 ClinVar PMID:9536098 PMID:16199547 PMID:16773502 PMID:17322883 PMID:17576681 More... NCBI chr 3:129,453,118...129,526,469
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin susceptibility ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar
RGD		 PMID:6024251 PMID:14564668 PMID:16199547 PMID:25741868 PMID:26467025 More... RGD:1556574 NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:31332438 PMID:32811770 PMID:33578420 More... NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
G Sub1 SUB1 regulator of transcription ISO ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:28492532 NCBI chr 2:61,005,646...61,020,486
Ensembl chr 2:61,005,666...61,020,436
Ensembl chr 2:61,005,666...61,020,436 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia		 CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:23176824 PMID:25590979 PMID:25741868 More... NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974 		JBrowse link
G Tex44 testis expressed 44 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:87,075,684...87,077,102
Ensembl chr 9:87,075,684...87,077,102 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:114,012,104...114,035,468
Ensembl chr 3:114,011,702...114,035,476 		JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 3:134,413,832...134,463,040
Ensembl chr 3:113,962,164...114,009,666 		JBrowse link
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:51,736,170...51,775,384
Ensembl chr16:51,737,481...51,775,390 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:17160902 PMID:20301727 PMID:20833645 PMID:23085491 PMID:24215330 More... NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103 		JBrowse link
G Wdr48 WD repeat domain 48 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28832565 NCBI chr 8:119,622,053...119,655,264
Ensembl chr 8:119,622,048...119,655,264 		JBrowse link
G Zfr zinc finger RNA binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 2:61,137,611...61,200,322
Ensembl chr 2:61,137,611...61,200,322 		JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 ClinVar PMID:6944241 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18394578 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480 		JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:118,851,497...118,875,813
Ensembl chr 2:116,923,272...116,945,264 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Costeff optic atrophy syndrome ClinVar PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO
ISS		 ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome
OMIM:258501
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469 		JBrowse link
early-onset dystonia and/or spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5mc3 ATP synthase membrane subunit c locus 3 ISO ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia OMIM
ClinVar		 PMID:19006192 PMID:34636445 PMID:34954817 NCBI chr 3:58,810,535...58,813,185
Ensembl chr 3:58,810,535...58,814,279 		JBrowse link
Fitzsimmons-McLachlan-Gilbert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS ClinVar PMID:21686261 PMID:25649377 PMID:25741868 PMID:26793055 PMID:27665735 More... NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584 		JBrowse link
Hereditary Spastic Paralysis, Infantile Onset Ascending term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11586297 PMID:11586298 PMID:12145748 PMID:12509863 More... NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567 		JBrowse link
hereditary spastic paraplegia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204 		JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R280C (human)
DNA:missense mutation:cds:p.L259Q (human)
DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human)
DNA:missense mutation:cds:p.R162W (human)
DNA:missense mutation:cds:p.N256S (human)
DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... RGD:12793060, RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790 		JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338 		JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069 		JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103 		JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 1:240,979,831...241,003,193
Ensembl chr 1:240,979,842...241,003,193 		JBrowse link
hereditary spastic paraplegia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:8644703 PMID:15146557 PMID:15591272 PMID:20104584 PMID:20345474 More... NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr16:7,663,665...7,723,416
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:26556829 PMID:28492532 NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM ClinVar PMID:21507300 PMID:23053473 PMID:24069319 PMID:25741868 PMID:28492532 NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO
ISS		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum
CTD Direct Evidence: marker/mechanism
OMIM:604360
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum
ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum		 OMIM
ClinVar
CTD
MouseDO		 PMID:2223744 PMID:2795747 PMID:3283541 PMID:9536098 PMID:16199547 More... NCBI chr 3:129,453,118...129,526,469
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr 3:66,758,805...66,769,626
Ensembl chr 3:46,351,213...46,361,041 		JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037 		JBrowse link
hereditary spastic paraplegia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppm1n protein phosphatase, Mg2+/Mn2+ dependent 1N ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 ClinVar PMID:25741868 NCBI chr 1:78,929,350...78,934,435
Ensembl chr 1:78,929,351...78,932,685 		JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 | ClinVar Annotator: match by term: RTN2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10677333 PMID:12427890 PMID:22232211 PMID:24123792 PMID:25741868 More... NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069 		JBrowse link
hereditary spastic paraplegia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO
ISS		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 13
OMIM:605280
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:10677329 PMID:12483302 PMID:17072495 PMID:17420924 PMID:18414213 More... RGD:10402832 NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
hereditary spastic paraplegia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfyve26 zinc finger FYVE-type containing 26 ISO
ISS		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: ZFYVE26-related condition
OMIM:270700
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480 		JBrowse link
hereditary spastic paraplegia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1674639 PMID:5964029 PMID:11479539 PMID:14557463 PMID:14981520 More... NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 ClinVar PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 More... NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167 		JBrowse link
hereditary spastic paraplegia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: ERLIN2-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 | ClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 More... NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
hereditary spastic paraplegia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728 		JBrowse link
G Plp1 proteolipid protein 1 ISO
ISS		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED | ClinVar Annotator: match by term: Spastic paraplegia 2
OMIM:312920
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1047279 PMID:1384324 PMID:1720927 PMID:2479017 PMID:2480601 More... NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED | ClinVar Annotator: match by term: Spastic paraplegia 2 ClinVar PMID:1047279 PMID:1384324 PMID:2479017 PMID:2480601 PMID:2773936 More... NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:25741868 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:100,058,485...100,060,439
Ensembl chr  X:100,058,132...100,060,551 		JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:100,010,677...100,012,637
Ensembl chr  X:100,010,690...100,012,654
Ensembl chr  X:100,010,690...100,012,654 		JBrowse link
hereditary spastic paraplegia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dstyk dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 More... NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269 		JBrowse link
hereditary spastic paraplegia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: B4GALNT1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 26
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:25741868 More... NCBI chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190 		JBrowse link
hereditary spastic paraplegia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 ClinVar PMID:28492532 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: DDHD1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 28
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 More... NCBI chr15:18,824,389...18,891,036
Ensembl chr15:18,824,394...18,890,952 		JBrowse link
hereditary spastic paraplegia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236 		JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323 		JBrowse link
G Aqp12a aquaporin 12A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011 		JBrowse link
G Asb1 ankyrin repeat and SOCS box-containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,120,332...92,140,790
Ensembl chr 9:92,120,306...92,136,376 		JBrowse link
G Atg4b autophagy related 4B, cysteine peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,282,417...94,314,109
Ensembl chr 9:94,282,509...94,314,103 		JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476 		JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317 		JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382 		JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,472,832...93,474,207 JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,956,971...91,964,846
Ensembl chr 9:91,956,977...91,964,846 		JBrowse link
G Espnl espin-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,912,038...91,936,803
Ensembl chr 9:91,912,049...91,935,292 		JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:101,501,061...101,609,092
Ensembl chr 9:94,053,726...94,162,212 		JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,382,456...94,387,990
Ensembl chr 9:94,376,174...94,389,174 		JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,396,234...93,424,047
Ensembl chr 9:93,396,234...93,424,047 		JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,527,165...93,539,573
Ensembl chr 9:93,527,127...93,539,299 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048 		JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,001,849...92,003,562
Ensembl chr 9:92,001,841...92,003,559 		JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,966,440...91,988,791
Ensembl chr 9:91,966,441...91,988,892 		JBrowse link
G Ing5 inhibitor of growth family, member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,326,549...94,343,392
Ensembl chr 9:94,326,548...94,344,220 		JBrowse link
G Kif1a kinesin family member 1A ISO
ISS		 DNA:missense mutations: :p.A255V, p.R350G (human)
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30
OMIM:610357
DNA:missense mutation: :p.A255V (human)		 ClinVar
MouseDO
RGD		 PMID:9536098 PMID:16081310 PMID:16199547 PMID:16434418 PMID:17576681 More... RGD:12911224, RGD:12911228 NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Klhl30 kelch-like family member 30 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,942,475...91,952,756
Ensembl chr 9:91,942,504...91,952,730 		JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250 		JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:93,690,999...93,700,506 		JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983 		JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,834,162...93,838,838
Ensembl chr 9:93,834,144...93,838,864 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560 		JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,396,920...94,402,576
Ensembl chr 9:94,396,920...94,402,576 		JBrowse link
G Or6b2 olfactory receptor family 6 subfamily B member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,048,475...93,049,413
Ensembl chr 9:93,045,014...93,053,641 		JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,216,948...93,220,614
Ensembl chr 9:93,216,948...93,218,466 		JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,844,275...93,886,036
Ensembl chr 9:93,844,278...93,885,111 		JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459 		JBrowse link
G Ppp1r7 protein phosphatase 1, regulatory subunit 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,886,068...93,911,198
Ensembl chr 9:93,886,143...93,914,850 		JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,543,128...91,549,022
Ensembl chr 9:91,547,901...91,548,818 		JBrowse link
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,552,924...91,566,759
Ensembl chr 9:91,553,464...91,566,451 		JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,765,481...91,816,152
Ensembl chr 9:91,781,285...91,816,151 		JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,731,153...91,756,783
Ensembl chr 9:91,731,115...91,756,772 		JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,476,600...93,486,331
Ensembl chr 9:93,472,390...93,486,331 		JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,890,269...91,910,947
Ensembl chr 9:91,890,306...91,910,941 		JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386 		JBrowse link
G Sned1 sushi, nidogen and EGF-like domains 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,774,087...93,834,003
Ensembl chr 9:93,774,119...93,830,694 		JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,161,834...94,174,095
Ensembl chr 9:94,161,836...94,174,244 		JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,242,581...94,282,312
Ensembl chr 9:94,242,581...94,282,306 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977 		JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222 		JBrowse link
G Ube2f ubiquitin-conjugating enzyme E2F (putative) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:99,293,506...99,328,690
Ensembl chr 9:91,845,987...91,880,594 		JBrowse link
hereditary spastic paraplegia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh8 atonal bHLH transcription factor 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,259,992...104,292,168
Ensembl chr 4:104,259,992...104,292,168 		JBrowse link
G C4h2orf68 similar to human chromosome 2 open reading frame 68 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,402,553...104,408,317
Ensembl chr 4:104,402,588...104,408,320 		JBrowse link
G Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063 		JBrowse link
G Immt inner membrane mitochondrial protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:103,880,482...103,919,116
Ensembl chr 4:103,880,459...103,919,109 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
G Mrpl35 mitochondrial ribosomal protein L35 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:103,865,812...103,876,687
Ensembl chr 4:103,865,812...103,880,887 		JBrowse link
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020 		JBrowse link
G Ptcd3 Pentatricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:103,922,440...103,957,445
Ensembl chr 4:103,920,566...103,957,538 		JBrowse link
G Reep1 receptor accessory protein 1 ISO
ISS		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant
OMIM:610250
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:16826527 PMID:17576681 PMID:18321925 More... NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338 		JBrowse link
G Rnf181 ring finger protein 181 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,414,586...104,421,433
Ensembl chr 4:104,414,605...104,421,309 		JBrowse link
G Sftpb surfactant protein B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:105,917,495...105,926,631
Ensembl chr 4:104,359,396...104,368,436 		JBrowse link
G St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,134,613...104,192,558
Ensembl chr 4:104,134,613...104,192,558 		JBrowse link
G Tmem150a transmembrane protein 150A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,410,271...104,414,630
Ensembl chr 4:104,410,516...104,429,349 		JBrowse link
G Usp39 ubiquitin specific peptidase 39 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,373,948...104,406,359
Ensembl chr 4:104,373,955...104,406,359 		JBrowse link
G Vamp5 vesicle-associated membrane protein 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,423,813...104,435,059
Ensembl chr 4:104,423,820...104,426,212 		JBrowse link
G Vamp8 vesicle-associated membrane protein 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:106,000,570...106,011,081
Ensembl chr 4:104,442,393...104,452,897 		JBrowse link
hereditary spastic paraplegia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:25741868 NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139 		JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: Spastic tetraparesis | ClinVar Annotator: match by term: ZFYVE27-related condition ClinVar PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28492532 More... NCBI chr 1:240,979,831...241,003,193
Ensembl chr 1:240,979,842...241,003,193 		JBrowse link
hereditary spastic paraplegia 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION ClinVar PMID:16783378 PMID:20301718 PMID:21735565 PMID:23176821 PMID:26936192 More... NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO
ISS		 ClinVar Annotator: match by term: FA2H-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 35
OMIM:612319		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19068277 More... NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153 		JBrowse link
hereditary spastic paraplegia 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,395,035...1,503,082
Ensembl chr12:1,395,088...1,503,081 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,502,606...1,532,347
Ensembl chr12:1,503,646...1,512,585 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: NTE related motor neuron disorder | ClinVar Annotator: match by term: Spastic paraplegia 39
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2557489 PMID:3963113 PMID:8053762 PMID:9536098 PMID:16199547 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Saxo5 stabilizer of axonemal microtubules 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,520,983...1,538,127
Ensembl chr12:1,521,014...1,538,118 		JBrowse link
G Zfp358 zinc finger protein 358 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,552,367...1,556,460
Ensembl chr12:1,552,366...1,556,460 		JBrowse link
hereditary spastic paraplegia 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2720292 PMID:4684346 PMID:8252041 PMID:8981948 PMID:9246006 More... NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:11241493 PMID:21208200 PMID:23664120 PMID:28492532 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:88,284,087...88,377,118
Ensembl chr 6:88,284,094...88,376,799 		JBrowse link
hereditary spastic paraplegia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc6 baculoviral IAP repeat-containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 6:26,474,843...26,668,275
Ensembl chr 6:20,722,922...20,916,434 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:28492532 NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432 		JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr 2:170,652,929...170,660,372
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:8388883 PMID:23281139 PMID:25741868 PMID:25802881 PMID:28492532 More... NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349 		JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:9990351 PMID:10999831 PMID:25741868 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:12415272 PMID:15994862 PMID:25741868 PMID:25741869 PMID:28492532 NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785 		JBrowse link
G Spast spastin ISO
ISS		 ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: SPAST-related condition | ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of
OMIM:182601
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of		 OMIM
ClinVar
MouseDO
CTD		 PMID:2504538 PMID:9536098 PMID:9695811 PMID:10493830 PMID:10610178 More... NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112 		JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425 		JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:9990351 PMID:10999831 PMID:25741868 NCBI chr  X:28,004,051...28,015,336
Ensembl chr  X:27,994,054...28,015,346 		JBrowse link
G Ttc27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 6:20,558,756...20,702,126
Ensembl chr 6:20,558,756...20,702,115 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
G Yipf4 Yip1 domain family, member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 6:20,950,774...20,962,195
Ensembl chr 6:20,950,501...20,962,229 		JBrowse link
hereditary spastic paraplegia 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 42
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19061983 PMID:24583203 PMID:25402622 PMID:25741868 PMID:26467025 More... NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758 		JBrowse link
hereditary spastic paraplegia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208 		JBrowse link
hereditary spastic paraplegia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 44
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.I33M (human)		 OMIM
ClinVar
CTD
RGD		 PMID:19056803 PMID:25741868 PMID:27057822 PMID:28492532 PMID:34055681 More... RGD:13208577 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
hereditary spastic paraplegia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 ClinVar PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 | ClinVar Annotator: match by term: Spastic paraplegia 45, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19415352 PMID:24482476 More... NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
hereditary spastic paraplegia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: GBA2-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20593214 PMID:23332916 More... NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
hereditary spastic paraplegia 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21440262 More... NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531 		JBrowse link
G Bcas2 BCAS2, pre-mRNA processing factor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:193,381,000...193,388,881
Ensembl chr 2:190,692,461...190,700,389 		JBrowse link
G Bcl2l15 Bcl2-like 15 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,338,959...191,344,078
Ensembl chr 2:191,338,959...191,344,078 		JBrowse link
G Capza1 capping actin protein of muscle Z-line subunit alpha 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,319,696...192,364,755
Ensembl chr 2:192,319,702...192,364,480 		JBrowse link
G Csde1 cold shock domain containing E1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,546,015...190,582,787
Ensembl chr 2:190,554,980...190,582,784 		JBrowse link
G Cttnbp2nl CTTNBP2 N-terminal like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,507,963...192,554,548
Ensembl chr 2:192,507,963...192,541,101 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:25741868 PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423 		JBrowse link
G Dennd2c DENN domain containing 2C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,622,357...190,690,489
Ensembl chr 2:190,622,940...190,690,488 		JBrowse link
G Hipk1 homeodomain interacting protein kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,248,817...191,299,787
Ensembl chr 2:191,248,817...191,298,902 		JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345 		JBrowse link
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579 		JBrowse link
G Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735 		JBrowse link
G Mov10 Mov10 RNA helicase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,292,041...192,315,142
Ensembl chr 2:192,293,470...192,315,083 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Olfml3 olfactomedin-like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,244,221...191,247,050
Ensembl chr 2:191,244,221...191,247,050 		JBrowse link
G Phtf1 putative homeodomain transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,470,849...191,537,399
Ensembl chr 2:191,473,130...191,512,078 		JBrowse link
G Ppm1j protein phosphatase, Mg2+/Mn2+ dependent, 1J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,278,597...192,283,883
Ensembl chr 2:192,278,517...192,283,882 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G Rhoc ras homolog family member C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,287,065...192,293,292
Ensembl chr 2:192,287,130...192,295,306 		JBrowse link
G Rsbn1 round spermatid basic protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,416,631...191,470,711
Ensembl chr 2:191,416,631...191,470,711 		JBrowse link
G Sike1 suppressor of IKBKE 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,518,002...190,525,833
Ensembl chr 2:190,518,002...190,525,832 		JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611 		JBrowse link
G St7l suppression of tumorigenicity 7-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,364,594...192,434,414
Ensembl chr 2:192,364,594...192,487,190 		JBrowse link
G Sycp1 synaptonemal complex protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,296,688...190,456,687
Ensembl chr 2:190,296,954...190,456,737 		JBrowse link
G Syt6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,093,009...191,152,283
Ensembl chr 2:191,093,007...191,149,956 		JBrowse link
G Tafa3 TAFA chemokine like family member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,264,153...192,280,356
Ensembl chr 2:192,267,093...192,274,019 		JBrowse link
G Trim33 tripartite motif-containing 33 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,812,329...190,892,663
Ensembl chr 2:190,807,243...190,888,814 		JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:24065355 PMID:25614869 PMID:25741868 PMID:29768361 PMID:31911435 NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103 		JBrowse link
G Wnt2b Wnt family member 2B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308 		JBrowse link
hereditary spastic paraplegia 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO
ISS		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 48
OMIM:613647		 OMIM
ClinVar
MouseDO		 PMID:3286 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20613862 More... NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511 		JBrowse link
hereditary spastic paraplegia 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 ClinVar PMID:28492532 NCBI chr 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: Inherited spastic paresis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive | ClinVar Annotator: match by term: TECPR2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23176824 PMID:25590979 More... NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974 		JBrowse link
hereditary spastic paraplegia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 More... NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Mcm7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:32979048 NCBI chr12:17,042,207...17,049,470
Ensembl chr12:17,042,212...17,050,063 		JBrowse link
hereditary spastic paraplegia 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 OMIM
ClinVar		 PMID:18414213 PMID:20972249 PMID:21937992 PMID:23472171 PMID:25167861 More... NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752 		JBrowse link
G Sppl2a signal peptide peptidase-like 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264 		JBrowse link
hereditary spastic paraplegia 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21620353 PMID:23167973 PMID:24700674 More... NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496 		JBrowse link
hereditary spastic paraplegia 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233 		JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:25,384,254...25,408,388
Ensembl chr16:20,617,518...20,641,745 		JBrowse link
G Cnot7 CCR4-NOT transcription complex, subunit 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,775,416...51,794,581
Ensembl chr16:51,775,412...51,794,576 		JBrowse link
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,995,210...21,330,586
Ensembl chr16:21,235,784...21,330,319 		JBrowse link
G Fgf20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:52,030,549...52,038,201
Ensembl chr16:52,010,194...52,038,204 		JBrowse link
G Fgl1 fibrinogen-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,120,652...51,150,907
Ensembl chr16:51,120,694...51,151,093 		JBrowse link
G Ints10 integrator complex subunit 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,915,223...20,947,146
Ensembl chr16:20,916,082...20,967,610 		JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:25,596,205...25,621,928
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Lzts1 leucine zipper tumor suppressor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203 		JBrowse link
G Micu3 mitochondrial calcium uptake family, member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,919,859...52,010,705
Ensembl chr16:51,925,225...52,010,613 		JBrowse link
G Mtmr7 myotubularin related protein 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,641,267...51,732,212
Ensembl chr16:51,641,190...51,732,182 		JBrowse link
G Mtus1 microtubule associated scaffold protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793 		JBrowse link
G Nat1 N-acetyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:22,218,217...22,238,516
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Nat2 N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Pcm1 pericentriolar material 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,008,315...51,105,261
Ensembl chr16:51,008,315...51,105,091 		JBrowse link
G Pdgfrl platelet-derived growth factor receptor-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,347,929...51,407,850
Ensembl chr16:51,347,948...51,407,850 		JBrowse link
G Psd3 pleckstrin and Sec7 domain containing 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:21,465,643...22,035,846
Ensembl chr16:21,465,639...22,034,547 		JBrowse link
G Sh2d4a SH2 domain containing 4A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:21,339,010...21,409,360
Ensembl chr16:21,340,015...21,409,260 		JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:25,408,485...25,453,786
Ensembl chr16:20,653,508...20,687,051 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784 		JBrowse link
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 | ClinVar Annotator: match by term: Spastic paraplegia 53, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22717650 PMID:25741868 More... NCBI chr16:51,736,170...51,775,384
Ensembl chr16:51,737,481...51,775,390 		JBrowse link
G Zdhhc2 zinc finger DHHC-type palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,808,465...51,878,060
Ensembl chr16:51,808,468...51,878,060 		JBrowse link
hereditary spastic paraplegia 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917 		JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552 		JBrowse link
G Ash2l ASH2 like histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061 		JBrowse link
G Bag4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,288,678...66,305,893
Ensembl chr16:66,288,678...66,308,663 		JBrowse link
G Brf2 BRF2 general transcription factor 3B subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,928,334...64,933,057
Ensembl chr16:64,928,300...64,933,059 		JBrowse link
G Ddhd2 DDHD domain containing 2 ISO
ISS		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
OMIM:615033		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:16636240 PMID:17576681 PMID:23176823 More... NCBI chr16:73,022,136...73,051,746
Ensembl chr16:66,319,466...66,349,023 		JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984 		JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Got1l1 glutamic-oxaloacetic transaminase 1-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,860,308...64,873,656
Ensembl chr16:64,860,704...64,866,162 		JBrowse link
G Htra4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:67,001,605...67,015,074
Ensembl chr16:67,001,605...67,015,074 		JBrowse link
G Letm2 leucine zipper and EF-hand containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,464,958...66,489,640
Ensembl chr16:66,469,111...66,489,704 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852 		JBrowse link
G Nsd3 nuclear receptor binding SET domain protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423 		JBrowse link
G Plekha2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,938,684...67,000,661
Ensembl chr16:66,939,109...66,999,395 		JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:65,003,292...65,014,886
Ensembl chr16:65,002,223...65,014,886 		JBrowse link
G Plpp5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,349,483...66,353,887
Ensembl chr16:66,349,502...66,464,797 		JBrowse link
G Rab11fip1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,886,902...64,917,491
Ensembl chr16:64,884,676...64,917,491 		JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672 		JBrowse link
G Tacc1 transforming, acidic coiled-coil containing protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,812,232...66,895,736
Ensembl chr16:66,812,295...66,895,733 		JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226 		JBrowse link
hereditary spastic paraplegia 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 55 | ClinVar Annotator: match by term: Spastic paraplegia 55, autosomal recessive OMIM
ClinVar		 PMID:3479531 PMID:20598281 PMID:23188110 PMID:24080142 PMID:24198383 More... NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258 		JBrowse link
hereditary spastic paraplegia 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: CYP2U1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 OMIM
ClinVar		 PMID:615030 PMID:14660610 PMID:16783378 PMID:20301718 PMID:21735565 More... NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882 		JBrowse link
hereditary spastic paraplegia 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 57 | ClinVar Annotator: match by term: Spastic paraplegia 57, autosomal recessive OMIM
ClinVar		 PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 More... NCBI chr11:43,885,542...43,911,976
Ensembl chr11:43,885,661...43,911,976 		JBrowse link
hereditary spastic paraplegia 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 59 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:134,413,832...134,463,040
Ensembl chr 3:113,962,164...114,009,666 		JBrowse link
hereditary spastic paraplegia 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:21981780 PMID:25741868 PMID:28492532 PMID:39825153 NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208 		JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A OMIM
ClinVar		 PMID:1943942 PMID:7987300 PMID:9536098 PMID:9802883 PMID:12874406 More... NCBI chr 2:102,419,011...102,586,047
Ensembl chr 2:100,502,791...100,669,698 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 PMID:29453417 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:28492532 NCBI chr18:26,438,130...26,447,165
Ensembl chr18:26,438,346...26,447,161 		JBrowse link
hereditary spastic paraplegia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 1:115,842,754...115,935,163
Ensembl chr 1:106,711,016...106,799,386 		JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 3 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 | ClinVar Annotator: match by term: NIPA1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7825577 PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 More... NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790 		JBrowse link
G Nipa2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 1:106,799,979...106,824,206
Ensembl chr 1:106,800,903...106,824,126 		JBrowse link
G Tubgcp5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 1:106,636,526...106,672,175
Ensembl chr 1:106,636,526...106,672,175 		JBrowse link
hereditary spastic paraplegia 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6ip1 ARL6 interacting reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 61 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 More... NCBI chr 1:172,430,475...172,439,990
Ensembl chr 1:172,430,489...172,439,994 		JBrowse link
hereditary spastic paraplegia 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin1 ER lipid raft associated 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 62 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 More... NCBI chr 1:242,921,147...242,956,472
Ensembl chr 1:242,921,152...242,956,394 		JBrowse link
hereditary spastic paraplegia 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcyl1 adenosylhomocysteinase-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,294,149...195,328,586
Ensembl chr 2:195,294,153...195,345,815 		JBrowse link
G Aknad1 AKNA domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,385,149...196,432,319
Ensembl chr 2:196,393,535...196,432,309 		JBrowse link
G Alx3 ALX homeobox 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,231,197...195,241,609
Ensembl chr 2:195,231,197...195,241,609 		JBrowse link
G Amigo1 adhesion molecule with Ig like domain 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,823,138...195,828,593
Ensembl chr 2:195,823,042...195,829,585 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 | ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23911318 PMID:24482476 More... NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271 		JBrowse link
G Atxn7l2 ataxin 7-like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,838,920...195,847,339
Ensembl chr 2:195,838,981...195,847,315 		JBrowse link
G Cd53 Cd53 molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,352,139...194,399,668
Ensembl chr 2:194,352,139...194,399,657 		JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845 		JBrowse link
G Cfap276 cilia and flagella associated protein 276 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,166,009...196,177,919
Ensembl chr 2:196,166,009...196,177,919 		JBrowse link
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,296,350...196,326,914
Ensembl chr 2:196,296,393...196,326,913 		JBrowse link
G Csf1 colony stimulating factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704 		JBrowse link
G Cyb561d1 cytochrome b561 family, member D1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,834,884...195,837,524
Ensembl chr 2:195,834,740...195,838,243 		JBrowse link
G Dram2 DNA damage regulated autophagy modulator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,035,624...194,064,415
Ensembl chr 2:194,035,818...194,063,403 		JBrowse link
G Eeig2 EEIG family member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,608,499...196,663,371
Ensembl chr 2:196,608,499...196,663,371 		JBrowse link
G Elapor1 endosome-lysosome associated apoptosis and autophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,089,199...196,169,055
Ensembl chr 2:196,091,646...196,168,716 		JBrowse link
G Eps8l3 EPS8 signaling adaptor L3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,514,692...195,528,085
Ensembl chr 2:195,514,692...195,528,085 		JBrowse link
G Fndc7 fibronectin type III domain containing 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,501,313...196,537,816
Ensembl chr 2:196,502,460...196,537,694 		JBrowse link
G Gnai3 G protein subunit alpha i3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:198,430,920...198,468,874
Ensembl chr 2:195,742,642...195,780,742 		JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,726,371...195,735,866
Ensembl chr 2:195,726,762...195,735,866 		JBrowse link
G Gpr61 G protein-coupled receptor 61 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,781,931...195,789,798
Ensembl chr 2:195,782,752...195,789,621 		JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstm2 glutathione S-transferase mu 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:198,312,179...198,316,962
Ensembl chr 2:195,544,426...195,628,961 		JBrowse link
G Gstm4 glutathione S-transferase mu 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:198,356,114...198,373,487
Ensembl chr 2:195,680,004...195,685,323 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553 		JBrowse link
G Gstm5l glutathione S-transferase, mu 5-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,544,424...195,549,895
Ensembl chr 2:195,544,426...195,628,961 		JBrowse link
G Henmt1 HEN methyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,585,732...196,603,700
Ensembl chr 2:196,586,797...196,599,738 		JBrowse link
G Kcna10 potassium voltage-gated channel subfamily A member 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,786,500...194,798,575
Ensembl chr 2:194,786,500...194,798,575 		JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400 		JBrowse link
G Kcna3 potassium voltage-gated channel subfamily A member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,632,106...194,634,059
Ensembl chr 2:194,632,196...194,650,138 		JBrowse link
G Kcnc4 potassium voltage-gated channel subfamily C member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,063,967...195,100,244
Ensembl chr 2:195,071,769...195,099,233 		JBrowse link
G Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,900,038...194,905,394
Ensembl chr 2:194,900,038...194,905,395 		JBrowse link
G Lrif1 ligand dependent nuclear receptor interacting factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,231,397...194,322,489
Ensembl chr 2:194,230,951...194,322,483 		JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824 		JBrowse link
G Prok1 prokineticin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,850,539...194,859,343
Ensembl chr 2:194,853,991...194,859,250 		JBrowse link
G Prpf38b pre-mRNA processing factor 38B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,553,224...196,562,271
Ensembl chr 2:196,553,225...196,562,250 		JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,896,369...195,919,733
Ensembl chr 2:195,896,365...195,919,731 		JBrowse link
G Psrc1 proline and serine rich coiled-coil 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,022,361...196,026,874
Ensembl chr 2:196,022,361...196,026,874 		JBrowse link
G Rbm15 RNA binding motif protein 15 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,945,974...194,954,498
Ensembl chr 2:194,945,974...194,954,703 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277 		JBrowse link
G Slc16a4 solute carrier family 16, member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,911,075...194,933,162
Ensembl chr 2:194,911,236...194,933,117 		JBrowse link
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,761,076...196,799,236
Ensembl chr 2:196,761,274...196,799,231 		JBrowse link
G Slc6a17 solute carrier family 6 member 17 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,107,434...195,155,697
Ensembl chr 2:195,107,438...195,155,697 		JBrowse link
G Sort1 sortilin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,924,033...196,002,354
Ensembl chr 2:195,924,099...196,002,354 		JBrowse link
G Strip1 striatin interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,248,384...195,268,330
Ensembl chr 2:195,248,386...195,268,481 		JBrowse link
G Stxbp3 syntaxin binding protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:199,130,725...199,173,823
Ensembl chr 2:196,442,634...196,485,671 		JBrowse link
G Sypl2 synaptophysin-like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,849,062...195,863,794
Ensembl chr 2:195,849,062...195,863,794 		JBrowse link
G Taf13 TATA-box binding protein associated factor 13 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,205,219...196,215,882
Ensembl chr 2:196,205,243...196,215,878 		JBrowse link
G Tmem167b transmembrane protein 167B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,194,355...196,198,134
Ensembl chr 2:196,192,185...196,198,158
Ensembl chr20:196,192,185...196,198,158 		JBrowse link
G Ubl4b ubiquitin-like 4B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,192,490...195,193,820
Ensembl chr 2:195,191,720...195,193,875 		JBrowse link
G Wdr47 WD repeat domain 47 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,226,757...196,287,739
Ensembl chr 2:196,205,238...196,287,739 		JBrowse link
hereditary spastic paraplegia 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 64 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 More... NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317 		JBrowse link
hereditary spastic paraplegia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:21623769 PMID:22964162 PMID:28492532 NCBI chr19:67,848,836...68,007,491
Ensembl chr19:50,940,299...51,098,962 		JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:39825153 NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146 		JBrowse link
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin ISS OMIM:607259 MouseDO NCBI chr19:51,117,088...51,151,228
Ensembl chr19:51,117,057...51,150,484 		JBrowse link
hereditary spastic paraplegia 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive ClinVar PMID:24482476 PMID:28492532 NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive OMIM
ClinVar		 PMID:24482476 PMID:25741868 PMID:28492532 PMID:28708278 PMID:34585293 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
hereditary spastic paraplegia 72A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 72 | ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia 72b, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24388663 PMID:24482476 PMID:25741868 More... NCBI chr18:26,438,130...26,447,165
Ensembl chr18:26,438,346...26,447,161 		JBrowse link
hereditary spastic paraplegia 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt1c carnitine palmitoyltransferase 1c ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25751282 More... NCBI chr 1:95,442,814...95,457,347
Ensembl chr 1:95,442,817...95,457,342 		JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 ClinVar PMID:25741868 NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610 		JBrowse link
hereditary spastic paraplegia 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iba57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 | ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23462291 PMID:25609768 PMID:25741868 More... NCBI chr10:43,942,017...43,950,807
Ensembl chr10:43,942,017...43,950,807 		JBrowse link
hereditary spastic paraplegia 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alkbh6 alkB homolog 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,563,511...85,568,977
Ensembl chr 1:85,563,592...85,568,973 		JBrowse link
G Aplp1 amyloid beta precursor like protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,696,880...85,707,215
Ensembl chr 1:85,696,882...85,707,155 		JBrowse link
G Arhgap33 Rho GTPase activating protein 33 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,776,112...85,789,767
Ensembl chr 1:85,776,108...85,789,678 		JBrowse link
G Atp4a ATPase H+/K+ transporting subunit alpha ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,961,607...85,974,972
Ensembl chr 1:85,961,708...85,974,844 		JBrowse link
G Capns1 calpain, small subunit 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,444,613...85,454,861
Ensembl chr 1:85,444,608...85,454,795 		JBrowse link
G Cd22 CD22 molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,116,376...86,132,782
Ensembl chr 1:86,117,459...86,132,322 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:96,896,584...96,899,256
Ensembl chr 1:87,759,433...87,762,412 		JBrowse link
G Cebpg CCAAT/enhancer binding protein gamma ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,683,060...87,692,772
Ensembl chr 1:87,684,019...87,694,569 		JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,058,211...88,100,114
Ensembl chr 1:88,058,227...88,100,112 		JBrowse link
G Chst8 carbohydrate sulfotransferase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,294,144...87,435,900
Ensembl chr 1:87,294,540...87,435,900 		JBrowse link
G Clip3 CAP-GLY domain containing linker protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,547,170...85,563,187
Ensembl chr 1:85,547,206...85,563,184 		JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001
Ensembl chr 2:85,875,109...85,884,001
Ensembl chr 5:85,875,109...85,884,001 		JBrowse link
G Cox7a1 cytochrome c oxidase subunit 7A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,422,162...85,447,530
Ensembl chr 1:85,441,871...85,445,151 		JBrowse link
G Dmkn dermokine ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,013,237...86,031,243
Ensembl chr 1:86,014,188...86,030,006 		JBrowse link
G Etv2 ETS variant transcription factor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,890,562...85,894,025
Ensembl chr 1:85,890,559...85,893,431 		JBrowse link
G Faap24 FA core complex associated protein 24 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,051,523...88,057,997
Ensembl chr 1:88,051,911...88,057,989 		JBrowse link
G Fam187b family with sequence similarity 187, member B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,205,234...86,219,542
Ensembl chr 1:86,205,218...86,219,917 		JBrowse link
G Ffar1 free fatty acid receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,111,368...86,112,272
Ensembl chr 1:86,111,368...86,112,272 		JBrowse link
G Ffar2 free fatty acid receptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,071,855...86,075,049
Ensembl chr 1:86,072,184...86,075,033 		JBrowse link
G Ffar3 free fatty acid receptor 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,105,388...86,106,728
Ensembl chr 1:86,104,920...86,106,849 		JBrowse link
G Fxyd1 FXYD domain-containing ion transport regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,287,163...86,291,478
Ensembl chr 1:86,287,165...86,291,278 		JBrowse link
G Fxyd3 FXYD domain-containing ion transport regulator 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,305,531...86,312,455 JBrowse link
G Fxyd5 FXYD domain-containing ion transport regulator 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,267,937...86,277,329
Ensembl chr 1:86,267,406...86,277,519 		JBrowse link
G Fxyd7 FXYD domain-containing ion transport regulator 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,277,678...86,286,954
Ensembl chr 1:86,277,678...86,286,954 		JBrowse link
G Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,106,516...95,125,918
Ensembl chr 1:85,979,098...85,993,640 		JBrowse link
G Garre1 granule associated Rac and RHOG effector 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,999,305...96,077,641
Ensembl chr 1:86,862,121...86,939,687 		JBrowse link
G Gpatch1 G patch domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,925,606...87,974,544
Ensembl chr 1:87,925,618...87,974,544 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Gramd1a GRAM domain containing 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,367,001...86,393,348
Ensembl chr 1:86,367,001...86,393,336 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Haus5 HAUS augmin-like complex, subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,912,371...85,924,327
Ensembl chr 1:85,912,374...85,923,337 		JBrowse link
G Hcst hematopoietic cell signal transducer ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,676,976...85,679,083
Ensembl chr 1:85,676,979...85,679,012 		JBrowse link
G Hpn hepsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,337,085...86,352,785
Ensembl chr 1:86,337,087...86,352,811 		JBrowse link
G Hspb6 heat shock protein family B (small) member 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,806,898...85,809,072
Ensembl chr 1:85,806,146...85,809,071 		JBrowse link
G Igflr1 IGF-like family receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,818,428...85,821,032
Ensembl chr 1:85,816,326...85,821,030 		JBrowse link
G Kctd15 potassium channel tetramerization domain containing 15 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,258,658...87,271,979
Ensembl chr 1:87,258,658...87,273,497 		JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326 		JBrowse link
G Krtdap keratinocyte differentiation associated protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,165,844...95,169,025
Ensembl chr 1:86,038,437...86,041,455 		JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874 		JBrowse link
G Lin37 lin-37 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,809,065...85,813,235
Ensembl chr 1:85,809,074...85,812,991 		JBrowse link
G Lrfn3 leucine rich repeat and fibronectin type III domain containing 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,616,862...85,623,725
Ensembl chr 1:85,616,868...85,623,725 		JBrowse link
G Lrp3 LDL receptor related protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,843,815...87,859,147
Ensembl chr 1:87,844,868...87,859,110 		JBrowse link
G Lsm14a LSM14A mRNA processing body assembly factor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,964,800...87,009,325
Ensembl chr 1:86,964,828...87,009,276 		JBrowse link
G Lsr lipolysis stimulated lipoprotein receptor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,185,769...86,201,952
Ensembl chr 1:86,186,431...86,201,952 		JBrowse link
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 | ClinVar Annotator: match by term: Spastic paraplegia 75, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 More... NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656 		JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,679,353...85,690,415
Ensembl chr 1:85,680,861...85,690,447 		JBrowse link
G Nudt19 nudix hydrolase 19 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,214,475...88,226,072
Ensembl chr 1:88,214,480...88,226,207 		JBrowse link
G Ovol3 ovo-like zinc finger 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,484,956...85,488,592
Ensembl chr 1:85,484,956...85,488,592 		JBrowse link
G Pdcd2l programmed cell death 2-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,810,292...86,822,554
Ensembl chr 1:86,810,292...86,822,554 		JBrowse link
G Pepd peptidase D ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231 		JBrowse link
G Polr2i RNA polymerase II subunit I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,483,515...85,484,952
Ensembl chr 1:85,483,515...85,484,952 		JBrowse link
G Prodh2 proline dehydrogenase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,753,558...85,767,165
Ensembl chr 1:85,753,644...85,767,162 		JBrowse link
G Proser3 proline and serine rich 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,793,363...85,806,682
Ensembl chr 1:85,793,358...85,805,909 		JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192 		JBrowse link
G Rbm42 RNA binding motif protein 42 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,898,618...85,908,569
Ensembl chr 1:85,898,625...85,908,573 		JBrowse link
G Rgs9bp regulator of G protein signaling 9 binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,249,438...88,250,151
Ensembl chr 1:88,249,438...88,250,151 		JBrowse link
G Rhpn2 rhophilin, Rho GTPase binding protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,991,143...88,051,895
Ensembl chr 1:87,991,144...88,051,902 		JBrowse link
G Sbsn suprabasin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,978,970...86,006,034
Ensembl chr 1:86,001,567...86,006,034 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739 		JBrowse link
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,576,207...85,577,156
Ensembl chr 1:85,576,041...85,577,366
Ensembl chr 1:85,576,041...85,577,366 		JBrowse link
G Slc7a10 solute carrier family 7 member 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,829,084...87,845,073
Ensembl chr 1:87,829,175...87,845,071 		JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641 		JBrowse link
G Syne4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,569,409...85,573,775
Ensembl chr 1:85,569,545...85,573,760 		JBrowse link
G Tbcb tubulin folding cofactor B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,477,639...85,483,488
Ensembl chr 1:85,477,640...85,483,488 		JBrowse link
G Tdrd12 tudor domain containing 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,133,271...88,205,729
Ensembl chr 1:88,133,373...88,205,705 		JBrowse link
G Thap8 THAP domain containing 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532
G Tmem147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,977,028...85,978,848
Ensembl chr 1:85,977,025...85,978,868 		JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848 		JBrowse link
G U2af1l4 U2 small nuclear RNA auxiliary factor 1-like 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,816,268...85,818,462
Ensembl chr 1:85,815,101...85,818,462 		JBrowse link
G Uba2 ubiquitin-like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,775,239...86,802,685
Ensembl chr 1:86,775,244...86,802,682 		JBrowse link
G Upk1a uroplakin 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,859,672...85,870,147
Ensembl chr 1:85,859,671...85,870,354 		JBrowse link
G Usf2 upstream transcription factor 2, c-fos interacting ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,174,703...86,185,942
Ensembl chr 1:86,174,703...86,185,617 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637 		JBrowse link
G Wdr88 WD repeat domain 88 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,884,316...87,924,719
Ensembl chr 1:87,884,323...87,924,695 		JBrowse link
G Wtip WT1 interacting protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,731,214...86,764,939
Ensembl chr 1:86,731,265...86,765,014 		JBrowse link
G Zbtb32 zinc finger and BTB domain containing 32 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,841,931...85,851,116
Ensembl chr 1:85,841,931...85,844,236 		JBrowse link
G Znf599l-ps1 zinc finger protein 599 like, pseudogene 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,453,465...86,484,002 JBrowse link
hereditary spastic paraplegia 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76 | ClinVar Annotator: match by term: CAPN1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27153400 PMID:27320912 More... NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177 		JBrowse link
hereditary spastic paraplegia 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 | ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive OMIM
ClinVar		 PMID:22833457 PMID:25741868 PMID:25851414 PMID:26553276 PMID:28492532 More... NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337 		JBrowse link
G Lyrm4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive ClinVar PMID:25741868 NCBI chr17:28,746,457...28,861,849
Ensembl chr17:28,746,469...28,861,750 		JBrowse link
hereditary spastic paraplegia 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: ATP13A2-related condition | ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 78 OMIM
ClinVar		 PMID:9536098 PMID:12169656 PMID:16964263 PMID:17576681 PMID:18075584 More... NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139 		JBrowse link
hereditary spastic paraplegia 79A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:35986737 PMID:37650884 NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590 		JBrowse link
hereditary spastic paraplegia 79B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome ClinVar
OMIM		 PMID:3340629 PMID:4514348 PMID:10203348 PMID:10563640 PMID:12408865 More... NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590 		JBrowse link
hereditary spastic paraplegia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:28492532 NCBI chr 7:90,936,112...91,173,435
Ensembl chr 7:90,936,112...91,164,899 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: WASHC5-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7604842 PMID:9536098 PMID:10797436 PMID:16199547 PMID:17160902 More... NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103 		JBrowse link
hereditary spastic paraplegia 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubap1 ubiquitin-associated protein 1 ISO
ISS		 ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant | ClinVar Annotator: match by term: UBAP1-related condition
OMIM:618418		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:25741869 PMID:30929741 PMID:31203368 PMID:31515522 More... NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152 		JBrowse link
hereditary spastic paraplegia 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Selenoi selenoprotein I ISO ClinVar Annotator: match by term: Spastic paraplegia 81, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28052917 PMID:29500230 PMID:33454747 PMID:36942482 NCBI chr 6:26,073,127...26,111,326
Ensembl chr 6:26,072,648...26,111,314 		JBrowse link
hereditary spastic paraplegia 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcyt2 phosphate cytidylyltransferase 2, ethanolamine ISO ClinVar Annotator: match by term: Spastic paraplegia 82, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31637422 PMID:32889549 PMID:33454747 More... NCBI chr10:105,888,769...105,896,182
Ensembl chr10:105,888,775...105,896,172 		JBrowse link
hereditary spastic paraplegia 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:32707086 PMID:33188300 PMID:33970200 NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233 		JBrowse link
hereditary spastic paraplegia 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Spastic paraplegia 84, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34415322 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
hereditary spastic paraplegia 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Spastic paraplegia 85, autosomal recessive OMIM
ClinVar		 PMID:17190954 PMID:21115467 PMID:25741868 PMID:25882839 PMID:31636353 More... NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083 		JBrowse link
hereditary spastic paraplegia 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:34587489 PMID:34866177 NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927 		JBrowse link
hereditary spastic paraplegia 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem63c transmembrane protein 63c ISO ClinVar Annotator: match by term: Spastic paraplegia 87, autosomal recessive OMIM
ClinVar		 PMID:35718349 NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990 		JBrowse link
hereditary spastic paraplegia 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Spastic paraplegia 88, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:34564892 PMID:34825409 PMID:34981581 NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419 		JBrowse link
hereditary spastic paraplegia 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Spastic paraplegia 89, autosomal recessive OMIM
ClinVar		 PMID:37119330 NCBI chr19:11,002,451...11,038,182
Ensembl chr19:10,996,099...11,032,247 		JBrowse link
hereditary spastic paraplegia 90A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptssa serine palmitoyltransferase, small subunit A ISO ClinVar Annotator: match by term: Spastic paraplegia 90A, autosomal dominant ClinVar
OMIM		 PMID:36718090 NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214 		JBrowse link
hereditary spastic paraplegia 90B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptssa serine palmitoyltransferase, small subunit A ISO ClinVar Annotator: match by term: Spastic paraplegia 90B, autosomal recessive OMIM
ClinVar		 NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214 		JBrowse link
hereditary spastic paraplegia 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy | ClinVar Annotator: match by term: Cataracts, motor neuronopathy, short stature and skeletal abnormalities | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:p.V243L, p.R252Q(human)		 OMIM
ClinVar
CTD
RGD		 PMID:8779323 PMID:9643297 PMID:9973297 PMID:25741868 PMID:26026163 More... RGD:11056004 NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
hereditary spastic paraplegia 9B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia type 9B | ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:9643297 PMID:17576681 PMID:25741868 PMID:26026163 More... NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
MASA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
G L1cam L1 cell adhesion molecule ISO
ISS		 DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel (human)
ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
OMIM:303350
DNA:deletion:exon:
DNA:mutation:cds:924C>T(human)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1303258 PMID:1870106 PMID:3460961 PMID:7493978 PMID:7562969 More... RGD:6483061, RGD:11570406, RGD:11064095 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
MAST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO
ISS		 ClinVar Annotator: match by term: Mast syndrome | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE
OMIM:248900
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:6024251 PMID:9536098 PMID:14564668 PMID:16199547 PMID:17576681 More... NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction OMIM
ClinVar		 PMID:25741868 PMID:36965478 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:159,698,894...159,705,582
Ensembl chr 4:158,012,663...158,019,349 		JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196 		JBrowse link
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,383,450...55,401,838
Ensembl chr10:55,383,450...55,401,558 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,370,531...55,375,921
Ensembl chr10:55,366,975...55,375,921 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,401,989...55,414,364
Ensembl chr10:55,401,982...55,414,114 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17273843 PMID:17576681 PMID:24319291 More... NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545 		JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,377,249...55,383,404
Ensembl chr10:55,377,249...55,383,404 		JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic ataxia 3		 OMIM
CTD
ClinVar		 PMID:22448145 PMID:25741868 PMID:28492532 NCBI chr 9:56,720,408...56,729,991
Ensembl chr 9:56,720,983...56,723,820 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471 PMID:21450511 PMID:21507954 PMID:24033266 PMID:24180463 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
Spastic paraplegia 30, autosomal dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30A, AUTOSOMAL DOMINANT OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21376300 PMID:21820098 PMID:22258533 More... NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
Spastic paraplegia 30, autosomal recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia 30b, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16434418 PMID:17576681 PMID:21376300 PMID:21487076 More... NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31332438 PMID:32811770 PMID:35150594 More... NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
Spastic Paraplegia 92, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ficd FIC domain protein adenylyltransferase ISO OMIM NCBI chr12:42,889,195...42,894,090
Ensembl chr12:42,889,194...42,894,070 		JBrowse link
Spastic Paraplegia 93, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfu1 NFU1 iron-sulfur cluster scaffold ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:24462778 PMID:25477904 PMID:25741868 PMID:25758857 PMID:25918518 More... NCBI chr 4:119,458,981...119,480,162
Ensembl chr 4:119,459,061...119,480,373 		JBrowse link
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity ClinVar PMID:11138011 PMID:11567214 PMID:15732097 PMID:17065456 PMID:17383133 More... NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
G Kidins220 kinase D-interacting substrate 220 ISO ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 More... NCBI chr 6:41,618,207...41,706,990
Ensembl chr 6:41,618,294...41,703,256 		JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity ClinVar PMID:25741868 NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724 		JBrowse link
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia, progressive OMIM
ClinVar		 PMID:1259395 PMID:2517465 PMID:7673954 PMID:7881433 PMID:7997024 More... NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
spastic tetraplegia, thin corpus callosum, and progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a4 solute carrier family 1 member 4 ISO
ISS		 ClinVar Annotator: match by term: SLC1A4-related condition | ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
OMIM:616657		 OMIM
ClinVar
MouseDO		 PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chr14:98,718,646...98,761,672
Ensembl chr14:94,529,084...94,560,418 		JBrowse link
Troyer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grid2 glutamate ionotropic receptor delta type subunit 2 ISO ClinVar Annotator: match by term: Troyer syndrome ClinVar PMID:24122788 NCBI chr 4:92,415,019...93,892,472
Ensembl chr 4:92,415,230...93,889,355 		JBrowse link
G Spart spartin ISO
ISS		 OMIM:275900
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SPART-related condition | ClinVar Annotator: match by term: Troyer syndrome		 OMIM
MouseDO
CTD
ClinVar		 PMID:12134148 PMID:18413476 PMID:20437587 PMID:20504295 PMID:23699601 More... NCBI chr 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          paraplegia 704
            hereditary spastic paraplegia 466
              3-methylglutaconic aciduria type 3 3
              Amyotrophic Dystonic Paraplegia 0
              Arena Syndrome 0
              Bahemuka Brown Syndrome 0
              Distal Transverse Limb Defects with Mental Retardation and Spasticity 0
              Fitzsimmons Walson Mellor Syndrome 0
              Fitzsimmons-Guilbert Syndrome 0
              Fitzsimmons-McLachlan-Gilbert syndrome 1
              Hereditary Spastic Paralysis, Infantile Onset Ascending 3
              MASA syndrome 3
              MAST syndrome 1
              Mental Retardation Spasticity Ectrodactyly 0
              NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION 1
              Roy Maroteaux Kremp Syndrome 0
              SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 3
              SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE 1
              Spastic Diplegia Infantile Type 0
              Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia 1
              Spastic Paraplegia 92, Autosomal Recessive 1
              Spastic Paraplegia 93, Autosomal Recessive 1
              Spastic Paraplegia Type 5B, Recessive 0
              Spastic Paraplegia and Evans Syndrome 0
              Spastic Paraplegia with Associated Extrapyramidal Signs 0
              Spastic Paraplegia with Kallmann Syndrome 0
              Spastic Paraplegia with Myoclonic Epilepsy 0
              Spastic Paraplegia with Neuropathy and Poikiloderma 0
              Spastic Paraplegia with Precocious Puberty 0
              Spastic Paraplegia, Epilepsy, Mental Retardation 0
              Spastic Paraplegia, Mitochondrial 0
              Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
              Spastic Paraplegia, Optic Atrophy, and Dementia 0
              Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 0
              Troyer syndrome 2
              Volcke Soekarman Syndrome 0
              early-onset dystonia and/or spastic paraplegia 1
              hereditary spastic paraplegia 10 11
              hereditary spastic paraplegia 11 11
              hereditary spastic paraplegia 12 2
              hereditary spastic paraplegia 13 1
              hereditary spastic paraplegia 14 0
              hereditary spastic paraplegia 15 1
              hereditary spastic paraplegia 16 0
              hereditary spastic paraplegia 17 2
              hereditary spastic paraplegia 18 1
              hereditary spastic paraplegia 19 0
              hereditary spastic paraplegia 2 6
              hereditary spastic paraplegia 23 1
              hereditary spastic paraplegia 24 0
              hereditary spastic paraplegia 25 0
              hereditary spastic paraplegia 26 1
              hereditary spastic paraplegia 27 0
              hereditary spastic paraplegia 28 2
              hereditary spastic paraplegia 29 0
              hereditary spastic paraplegia 30 + 51
              hereditary spastic paraplegia 31 16
              hereditary spastic paraplegia 32 0
              hereditary spastic paraplegia 33 2
              hereditary spastic paraplegia 34 0
              hereditary spastic paraplegia 35 2
              hereditary spastic paraplegia 36 0
              hereditary spastic paraplegia 37 0
              hereditary spastic paraplegia 38 0
              hereditary spastic paraplegia 39 6
              hereditary spastic paraplegia 3A 3
              hereditary spastic paraplegia 4 18
              hereditary spastic paraplegia 41 0
              hereditary spastic paraplegia 42 1
              hereditary spastic paraplegia 43 1
              hereditary spastic paraplegia 44 1
              hereditary spastic paraplegia 45 2
              hereditary spastic paraplegia 46 2
              hereditary spastic paraplegia 47 31
              hereditary spastic paraplegia 48 1
              hereditary spastic paraplegia 49 2
              hereditary spastic paraplegia 50 3
              hereditary spastic paraplegia 51 2
              hereditary spastic paraplegia 52 1
              hereditary spastic paraplegia 53 22
              hereditary spastic paraplegia 54 22
              hereditary spastic paraplegia 55 1
              hereditary spastic paraplegia 56 1
              hereditary spastic paraplegia 57 1
              hereditary spastic paraplegia 59 1
              hereditary spastic paraplegia 5A 7
              hereditary spastic paraplegia 6 4
              hereditary spastic paraplegia 61 1
              hereditary spastic paraplegia 62 1
              hereditary spastic paraplegia 63 51
              hereditary spastic paraplegia 64 1
              hereditary spastic paraplegia 7 3
              hereditary spastic paraplegia 70 2
              hereditary spastic paraplegia 72A 1
              hereditary spastic paraplegia 73 2
              hereditary spastic paraplegia 74 1
              hereditary spastic paraplegia 75 78
              hereditary spastic paraplegia 76 1
              hereditary spastic paraplegia 77 2
              hereditary spastic paraplegia 78 1
              hereditary spastic paraplegia 79A 1
              hereditary spastic paraplegia 79B 1
              hereditary spastic paraplegia 8 6
              hereditary spastic paraplegia 80 1
              hereditary spastic paraplegia 81 1
              hereditary spastic paraplegia 82 1
              hereditary spastic paraplegia 83 1
              hereditary spastic paraplegia 84 1
              hereditary spastic paraplegia 85 1
              hereditary spastic paraplegia 86 1
              hereditary spastic paraplegia 87 1
              hereditary spastic paraplegia 88 1
              hereditary spastic paraplegia 89 1
              hereditary spastic paraplegia 90A 1
              hereditary spastic paraplegia 90B 1
              hereditary spastic paraplegia 9A 1
              hereditary spastic paraplegia 9B 1
              spastic ataxia 1 2
              spastic ataxia 2 11
              spastic ataxia 3 2
              spastic paraplegia with deafness 0
              spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1
Path 2
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  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          neurodegenerative disease 5077
            Nervous System Heredodegenerative Disorders 3370
              motor peripheral neuropathy 1303
                hereditary spastic paraplegia 466
                  3-methylglutaconic aciduria type 3 3
                  Amyotrophic Dystonic Paraplegia 0
                  Arena Syndrome 0
                  Bahemuka Brown Syndrome 0
                  Distal Transverse Limb Defects with Mental Retardation and Spasticity 0
                  Fitzsimmons Walson Mellor Syndrome 0
                  Fitzsimmons-Guilbert Syndrome 0
                  Fitzsimmons-McLachlan-Gilbert syndrome 1
                  Hereditary Spastic Paralysis, Infantile Onset Ascending 3
                  MASA syndrome 3
                  MAST syndrome 1
                  Mental Retardation Spasticity Ectrodactyly 0
                  NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION 1
                  Roy Maroteaux Kremp Syndrome 0
                  SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 3
                  SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE 1
                  Spastic Diplegia Infantile Type 0
                  Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia 1
                  Spastic Paraplegia 92, Autosomal Recessive 1
                  Spastic Paraplegia 93, Autosomal Recessive 1
                  Spastic Paraplegia Type 5B, Recessive 0
                  Spastic Paraplegia and Evans Syndrome 0
                  Spastic Paraplegia with Associated Extrapyramidal Signs 0
                  Spastic Paraplegia with Kallmann Syndrome 0
                  Spastic Paraplegia with Myoclonic Epilepsy 0
                  Spastic Paraplegia with Neuropathy and Poikiloderma 0
                  Spastic Paraplegia with Precocious Puberty 0
                  Spastic Paraplegia, Epilepsy, Mental Retardation 0
                  Spastic Paraplegia, Mitochondrial 0
                  Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
                  Spastic Paraplegia, Optic Atrophy, and Dementia 0
                  Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 0
                  Troyer syndrome 2
                  Volcke Soekarman Syndrome 0
                  early-onset dystonia and/or spastic paraplegia 1
                  hereditary spastic paraplegia 10 11
                  hereditary spastic paraplegia 11 11
                  hereditary spastic paraplegia 12 2
                  hereditary spastic paraplegia 13 1
                  hereditary spastic paraplegia 14 0
                  hereditary spastic paraplegia 15 1
                  hereditary spastic paraplegia 16 0
                  hereditary spastic paraplegia 17 2
                  hereditary spastic paraplegia 18 1
                  hereditary spastic paraplegia 19 0
                  hereditary spastic paraplegia 2 6
                  hereditary spastic paraplegia 23 1
                  hereditary spastic paraplegia 24 0
                  hereditary spastic paraplegia 25 0
                  hereditary spastic paraplegia 26 1
                  hereditary spastic paraplegia 27 0
                  hereditary spastic paraplegia 28 2
                  hereditary spastic paraplegia 29 0
                  hereditary spastic paraplegia 30 + 51
                  hereditary spastic paraplegia 31 16
                  hereditary spastic paraplegia 32 0
                  hereditary spastic paraplegia 33 2
                  hereditary spastic paraplegia 34 0
                  hereditary spastic paraplegia 35 2
                  hereditary spastic paraplegia 36 0
                  hereditary spastic paraplegia 37 0
                  hereditary spastic paraplegia 38 0
                  hereditary spastic paraplegia 39 6
                  hereditary spastic paraplegia 3A 3
                  hereditary spastic paraplegia 4 18
                  hereditary spastic paraplegia 41 0
                  hereditary spastic paraplegia 42 1
                  hereditary spastic paraplegia 43 1
                  hereditary spastic paraplegia 44 1
                  hereditary spastic paraplegia 45 2
                  hereditary spastic paraplegia 46 2
                  hereditary spastic paraplegia 47 31
                  hereditary spastic paraplegia 48 1
                  hereditary spastic paraplegia 49 2
                  hereditary spastic paraplegia 50 3
                  hereditary spastic paraplegia 51 2
                  hereditary spastic paraplegia 52 1
                  hereditary spastic paraplegia 53 22
                  hereditary spastic paraplegia 54 22
                  hereditary spastic paraplegia 55 1
                  hereditary spastic paraplegia 56 1
                  hereditary spastic paraplegia 57 1
                  hereditary spastic paraplegia 59 1
                  hereditary spastic paraplegia 5A 7
                  hereditary spastic paraplegia 6 4
                  hereditary spastic paraplegia 61 1
                  hereditary spastic paraplegia 62 1
                  hereditary spastic paraplegia 63 51
                  hereditary spastic paraplegia 64 1
                  hereditary spastic paraplegia 7 3
                  hereditary spastic paraplegia 70 2
                  hereditary spastic paraplegia 72A 1
                  hereditary spastic paraplegia 73 2
                  hereditary spastic paraplegia 74 1
                  hereditary spastic paraplegia 75 78
                  hereditary spastic paraplegia 76 1
                  hereditary spastic paraplegia 77 2
                  hereditary spastic paraplegia 78 1
                  hereditary spastic paraplegia 79A 1
                  hereditary spastic paraplegia 79B 1
                  hereditary spastic paraplegia 8 6
                  hereditary spastic paraplegia 80 1
                  hereditary spastic paraplegia 81 1
                  hereditary spastic paraplegia 82 1
                  hereditary spastic paraplegia 83 1
                  hereditary spastic paraplegia 84 1
                  hereditary spastic paraplegia 85 1
                  hereditary spastic paraplegia 86 1
                  hereditary spastic paraplegia 87 1
                  hereditary spastic paraplegia 88 1
                  hereditary spastic paraplegia 89 1
                  hereditary spastic paraplegia 90A 1
                  hereditary spastic paraplegia 90B 1
                  hereditary spastic paraplegia 9A 1
                  hereditary spastic paraplegia 9B 1
                  spastic ataxia 1 2
                  spastic ataxia 2 11
                  spastic ataxia 3 2
                  spastic paraplegia with deafness 0
                  spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1
paths to the root