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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.

GViewer not supported for the selected species.

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 chrNW_004936727:1,828,966...1,843,334
Ensembl chrNW_004936727:1,828,905...1,844,967 		JBrowse link
G Adam28 ADAM metallopeptidase domain 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chrNW_004936555:7,615,639...7,660,776
Ensembl chrNW_004936555:7,617,822...7,664,215 		JBrowse link
G Adgrb2 adhesion G protein-coupled receptor B2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chrNW_004936474:14,835,621...14,870,815
Ensembl chrNW_004936474:14,835,602...14,870,821 		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 chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799 		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 chrNW_004936704:1,092,180...1,111,722
Ensembl chrNW_004936704:1,099,816...1,113,887 		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 chrNW_004936690:2,255,159...2,265,833
Ensembl chrNW_004936690:2,255,159...2,265,847 		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 chrNW_004936471:12,857,259...12,919,615
Ensembl chrNW_004936471:12,857,323...12,916,718 		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 chrNW_004936543:246,335...250,278
Ensembl chrNW_004936543:246,335...254,975 		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 chrNW_004936494:5,720,474...5,758,888 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 chrNW_004936599:3,750,553...3,753,601
Ensembl chrNW_004936599:3,750,512...3,754,291 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:9536098 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24833714 More... NCBI chrNW_004936765:1,112,333...1,123,244
Ensembl chrNW_004936765:1,111,882...1,123,316 		JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28832565 NCBI chrNW_004936646:1,629,814...1,637,535
Ensembl chrNW_004936646:1,630,029...1,638,571 		JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chrNW_004936525:5,518,691...5,648,109
Ensembl chrNW_004936525:5,514,521...5,648,074 		JBrowse link
G Arsi arylsulfatase family member I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chrNW_004936504:4,624,949...4,631,482
Ensembl chrNW_004936504:4,624,945...4,631,487 		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 chrNW_004936495:14,984,761...15,053,188
Ensembl chrNW_004936495:14,984,336...15,040,597 		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 chrNW_004936525:5,495,815...5,508,400
Ensembl chrNW_004936525:5,496,465...5,505,278 		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 chrNW_004936487:2,287,736...2,335,674
Ensembl chrNW_004936487:2,255,882...2,335,731 		JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 ISO MouseDO NCBI chrNW_004936600:3,074,857...3,088,294
Ensembl chrNW_004936600:3,074,987...3,088,524 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 More... NCBI chrNW_004936581:567,426...576,859
Ensembl chrNW_004936581:567,662...578,267 		JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chrNW_004936643:2,354,799...2,368,048
Ensembl chrNW_004936643:2,354,799...2,368,048 		JBrowse link
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chrNW_004936529:7,577,122...7,632,161
Ensembl chrNW_004936529:7,585,839...7,635,439 		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 chrNW_004936600:2,898,321...3,037,414
Ensembl chrNW_004936600:2,904,410...3,036,132 		JBrowse link
G CUNH19orf12 chromosome unknown C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21981780 PMID:23269600 PMID:24361204 PMID:25558065 PMID:25741868 More... NCBI chrNW_004936570:5,628,593...5,640,982
Ensembl chrNW_004936570:5,628,515...5,641,056 		JBrowse link
G Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23176821 PMID:24989667 PMID:25741868 PMID:26637979 PMID:26944165 More... NCBI chrNW_004936697:1,786,023...1,863,084
Ensembl chrNW_004936697:1,786,017...1,860,614 		JBrowse link
G Ddhd2 DDHD domain containing 2 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:23176823 PMID:24337409 PMID:24517879 More... NCBI chrNW_004936710:1,593,899...1,616,572
Ensembl chrNW_004936710:1,593,946...1,618,828 		JBrowse link
G Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chrNW_004936474:3,201,773...3,241,939
Ensembl chrNW_004936474:3,201,755...3,243,093 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar NCBI chrNW_004936471:7,517,577...7,541,965
Ensembl chrNW_004936471:7,517,540...7,540,371 		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 chrNW_004936636:80,583...116,027
Ensembl chrNW_004936636:80,564...116,694 		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 chrNW_004936710:1,193,679...1,210,059
Ensembl chrNW_004936710:1,193,411...1,210,739 		JBrowse link
G Fa2h fatty acid 2-hydroxylase 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:18414213 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25356970 More... NCBI chrNW_004936475:23,625,023...23,675,211
Ensembl chrNW_004936475:23,624,969...23,675,235 		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 chrNW_004936483:15,096,215...15,179,856
Ensembl chrNW_004936483:15,106,902...15,179,094 		JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chrNW_004936599:5,047,982...5,068,345
Ensembl chrNW_004936599:5,055,597...5,057,621 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 NCBI chrNW_004936509:1,160,559...1,201,037
Ensembl chrNW_004936509:1,161,094...1,201,576 		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 chrNW_004936524:3,730,833...3,742,526
Ensembl chrNW_004936524:3,730,833...3,742,531 		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 chrNW_004936864:67,608...71,543
Ensembl chrNW_004936864:69,445...70,752 		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 		RGD
ClinVar		 PMID:11898127 PMID:17072495 PMID:18414213 PMID:19423133 PMID:19494379 More... RGD:1624200 NCBI chrNW_004936506:1,678,069...1,687,632 JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chrNW_004936596:3,212,593...3,224,426
Ensembl chrNW_004936596:3,212,593...3,224,048 		JBrowse link
G Kif1a kinesin family member 1A 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:9536098 PMID:17576681 PMID:21376300 PMID:22258533 PMID:25265257 More... NCBI chrNW_004936745:911,651...976,878
Ensembl chrNW_004936745:911,709...974,199 		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 chrNW_004936677:2,696,385...2,720,959
Ensembl chrNW_004936677:2,696,209...2,720,959 		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 chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832 		JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chrNW_004936529:7,657,963...7,704,482
Ensembl chrNW_004936529:7,657,957...7,704,517 		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 chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chrNW_004936495:15,238,726...15,278,840
Ensembl chrNW_004936495:15,238,738...15,278,840 		JBrowse link
G LOC101955077 cytochrome P450 7B1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089 		JBrowse link
G LOC101973126 cytochrome P450 2U1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:14660610 PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 More... NCBI chrNW_004936818:650,593...672,349
Ensembl chrNW_004936818:650,589...672,355 		JBrowse link
G LOC101975532 delta-1-pyrroline-5-carboxylate synthase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936636:3,779,259...3,800,846
Ensembl chrNW_004936636:3,760,326...3,801,073 		JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chrNW_004936599:5,018,636...5,154,844
Ensembl chrNW_004936599:5,018,770...5,154,491 		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 chrNW_004936570:989,743...1,004,820 JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28832565 NCBI chrNW_004936646:1,644,457...1,665,081
Ensembl chrNW_004936646:1,644,457...1,665,086 		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 chrNW_004936588:4,600,344...4,608,793
Ensembl chrNW_004936588:4,600,344...4,608,787 		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 chrNW_004936541:4,959,838...4,972,543 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 chrNW_004936558:1,470,781...1,482,885
Ensembl chrNW_004936558:1,470,775...1,483,344 		JBrowse link
G Myt1 myelin transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chrNW_004936514:11,305,929...11,367,935
Ensembl chrNW_004936514:11,308,071...11,368,801 		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 chrNW_004936471:38,363,521...38,403,647
Ensembl chrNW_004936471:38,364,940...38,407,314 		JBrowse link
G Nmur1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chrNW_004936525:5,355,570...5,386,284
Ensembl chrNW_004936525:5,382,372...5,385,788 		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 chrNW_004936518:8,093,111...8,158,862
Ensembl chrNW_004936518:8,093,561...8,158,868 		JBrowse link
G Nrg1 neuregulin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chrNW_004936766:1,104,841...1,306,368
Ensembl chrNW_004936766:1,104,728...1,305,972 		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 chrNW_004936600:2,828,277...2,892,795 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 chrNW_004936506:2,224,598...2,297,022
Ensembl chrNW_004936506:2,224,572...2,294,739 		JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chrNW_004936623:1,255,350...1,279,310
Ensembl chrNW_004936623:1,255,096...1,279,349 		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 chrNW_004936499:10,534,953...10,553,411
Ensembl chrNW_004936499:10,534,950...10,551,012 		JBrowse link
G Pnpla6 patatin like domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183 		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 chrNW_004936483:15,178,947...15,196,277
Ensembl chrNW_004936483:15,179,342...15,195,258 		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 chrNW_004936541:4,988,469...5,004,110
Ensembl chrNW_004936541:4,988,368...5,003,922 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 NCBI chrNW_004936721:825,171...830,010
Ensembl chrNW_004936721:825,075...832,755 		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 chrNW_004936499:10,501,837...10,506,793
Ensembl chrNW_004936499:10,437,611...10,504,320 		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 chrNW_004936712:1,186,565...1,241,829
Ensembl chrNW_004936712:1,206,276...1,241,301 		JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chrNW_004936480:19,114,753...19,253,346
Ensembl chrNW_004936480:19,114,768...19,253,352 		JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936706:1,913,852...1,922,982
Ensembl chrNW_004936706:1,913,842...1,922,772 		JBrowse link
G Sacs sacsin molecular chaperone ISO 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 Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 		ClinVar PMID:8472930 PMID:10610707 PMID:10655055 PMID:11788093 PMID:14718706 More... NCBI chrNW_004936688:1,987,075...2,079,148
Ensembl chrNW_004936688:1,987,054...2,079,173 		JBrowse link
G Setx senataxin 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 PMID:9536098 PMID:17096168 PMID:17159128 PMID:17576681 PMID:18058631 More... NCBI chrNW_004936487:18,858,384...18,945,253
Ensembl chrNW_004936487:18,855,744...18,944,158 		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 chrNW_004936683:803,186...910,143
Ensembl chrNW_004936683:803,134...910,284 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chrNW_004936664:599,012...610,689
Ensembl chrNW_004936664:598,468...610,698 		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 chrNW_004936519:3,038,895...3,061,215
Ensembl chrNW_004936519:3,036,106...3,061,271 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Complex hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chrNW_004936542:6,192,407...6,352,835
Ensembl chrNW_004936542:6,192,407...6,352,424 		JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936472:30,467,975...30,525,880
Ensembl chrNW_004936472:30,467,964...30,504,624 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Autosomal dominant hereditary spastic paraplegia | 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:9536098 PMID:10610178 PMID:10699187 PMID:11015453 PMID:11039577 More... NCBI chrNW_004936493:1,283,754...1,342,592
Ensembl chrNW_004936493:1,283,729...1,343,390 		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: Complex 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 Annotator: match by term: Spastic Paraplegia, Recessive 		ClinVar PMID:9536098 PMID:16199547 PMID:16773502 PMID:17322883 PMID:17576681 More... NCBI chrNW_004936471:7,540,647...7,618,783 JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin susceptibility ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia RGD
ClinVar		 PMID:6024251 PMID:14564668 PMID:16199547 PMID:25741868 PMID:26467025 More... RGD:1556574 NCBI chrNW_004936471:25,301,385...25,327,835 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 chrNW_004936487:16,071,043...16,142,662
Ensembl chrNW_004936487:16,070,996...16,142,662 		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 chrNW_004936518:8,236,026...8,249,007
Ensembl chrNW_004936518:8,233,338...8,249,549 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 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:23176824 PMID:25590979 PMID:25741868 More... NCBI chrNW_004936835:525,198...604,685
Ensembl chrNW_004936835:524,802...607,365 		JBrowse link
G Tex44 testis expressed 44 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chrNW_004936525:5,354,202...5,355,338 JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More... NCBI chrNW_004936600:4,691,112...4,696,523
Ensembl chrNW_004936600:4,691,104...4,696,507 		JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936471:12,522,361...12,552,611
Ensembl chrNW_004936471:12,521,731...12,552,346 		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 chrNW_004936471:12,463,189...12,524,148
Ensembl chrNW_004936471:12,463,120...12,520,674 		JBrowse link
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936573:6,306,218...6,343,544
Ensembl chrNW_004936573:6,306,536...6,340,271 		JBrowse link
G Washc5 WASH complex subunit 5 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:17160902 PMID:20301727 PMID:20833645 PMID:23085491 PMID:24215330 More... NCBI chrNW_004936470:22,667,354...22,725,538
Ensembl chrNW_004936470:22,667,127...22,725,749 		JBrowse link
G Wdr48 WD repeat domain 48 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28832565 NCBI chrNW_004936473:28,307,913...28,351,727
Ensembl chrNW_004936473:28,307,875...28,354,279 		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 chrNW_004936518:8,367,396...8,442,271
Ensembl chrNW_004936518:8,367,479...8,440,851 		JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 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 PMID:6944241 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18394578 More... NCBI chrNW_004936495:11,132,025...11,191,446
Ensembl chrNW_004936495:11,134,138...11,190,863 		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 chrNW_004936566:2,342,995...2,348,345
Ensembl chrNW_004936566:2,343,013...2,368,213 		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 chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome OMIM
ClinVar		 PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chrNW_004936706:1,961,571...1,996,637
Ensembl chrNW_004936706:1,964,237...1,995,175 		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 chrNW_004936509:4,836,148...4,839,330 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 chrNW_004936751:210,800...294,358
Ensembl chrNW_004936751:210,761...294,399 		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 OMIM
ClinVar		 PMID:9536098 PMID:11586297 PMID:11586298 PMID:12145748 PMID:12509863 More... NCBI chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799 		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 chrNW_004936726:893,411...938,876
Ensembl chrNW_004936726:892,550...938,969 		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 chrNW_004936726:872,368...892,185
Ensembl chrNW_004936726:869,238...891,283 		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 chrNW_004936495:14,984,761...15,053,188
Ensembl chrNW_004936495:14,984,336...15,040,597 		JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004936710:1,193,679...1,210,059
Ensembl chrNW_004936710:1,193,411...1,210,739 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004936506:1,678,069...1,687,632 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 OMIM
ClinVar		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... NCBI chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832 		JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004936471:38,363,521...38,403,647
Ensembl chrNW_004936471:38,364,940...38,407,314 		JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004936712:1,186,565...1,241,829
Ensembl chrNW_004936712:1,206,276...1,241,301 		JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936706:1,913,852...1,922,982
Ensembl chrNW_004936706:1,913,842...1,922,772 		JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004936519:3,038,895...3,061,215
Ensembl chrNW_004936519:3,036,106...3,061,271 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936493:1,283,754...1,342,592
Ensembl chrNW_004936493:1,283,729...1,343,390 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004936470:22,667,354...22,725,538
Ensembl chrNW_004936470:22,667,127...22,725,749 		JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004936636:1,979,287...2,003,696
Ensembl chrNW_004936636:1,979,172...2,003,769 		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 chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778 		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 chrNW_004936490:17,735,444...17,801,456 JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chrNW_004936728:653,654...702,433
Ensembl chrNW_004936728:654,638...700,213 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar NCBI chrNW_004936471:7,517,577...7,541,965
Ensembl chrNW_004936471:7,517,540...7,540,371 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chrNW_004936697:232,048...275,420 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 chrNW_004936471:7,618,841...7,630,214
Ensembl chrNW_004936471:7,620,215...7,630,214 		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 chrNW_004936469:13,194,769...13,345,979
Ensembl chrNW_004936469:13,256,925...13,345,978 		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 chrNW_004936585:4,061,297...4,215,912
Ensembl chrNW_004936585:4,058,877...4,215,942 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO 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
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		 PMID:2223744 PMID:2795747 PMID:3283541 PMID:9536098 PMID:16199547 More... NCBI chrNW_004936471:7,540,647...7,618,783 JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chrNW_004936469:17,481,049...17,489,535
Ensembl chrNW_004936469:17,479,842...17,490,710 		JBrowse link
G Trim69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chrNW_004936471:7,664,655...7,702,243
Ensembl chrNW_004936471:7,665,218...7,702,243 		JBrowse link
hereditary spastic paraplegia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 | ClinVar Annotator: match by term: RTN2-related condition OMIM
ClinVar		 PMID:10677333 PMID:12427890 PMID:22232211 PMID:24123792 PMID:25741868 More... NCBI chrNW_004936706:1,913,852...1,922,982
Ensembl chrNW_004936706:1,913,842...1,922,772 		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 ClinVar Annotator: match by term: Hereditary spastic paraplegia 13 OMIM
ClinVar		 PMID:10677329 PMID:12483302 PMID:17072495 PMID:17420924 PMID:18414213 More... NCBI chrNW_004936506:1,678,069...1,687,632 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 ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: ZFYVE26-related condition OMIM
ClinVar		 PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936495:11,132,025...11,191,446
Ensembl chrNW_004936495:11,134,138...11,190,863 		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 OMIM
ClinVar		 PMID:1674639 PMID:5964029 PMID:11479539 PMID:14557463 PMID:14981520 More... NCBI chrNW_004936581:567,426...576,859
Ensembl chrNW_004936581:567,662...578,267 		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 chrNW_004936500:8,721,155...8,752,906
Ensembl chrNW_004936500:8,722,087...8,752,844 		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 OMIM
ClinVar		 PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 More... NCBI chrNW_004936710:1,193,679...1,210,059
Ensembl chrNW_004936710:1,193,411...1,210,739 		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 chrNW_004936499:10,636,711...10,647,442
Ensembl chrNW_004936499:10,636,776...10,647,442 		JBrowse link
G Plp1 proteolipid protein 1 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 OMIM
ClinVar		 PMID:1047279 PMID:1384324 PMID:1720927 PMID:2479017 PMID:2480601 More... NCBI chrNW_004936499:10,534,953...10,553,411
Ensembl chrNW_004936499:10,534,950...10,551,012 		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 chrNW_004936499:10,501,837...10,506,793
Ensembl chrNW_004936499:10,437,611...10,504,320 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:25741868 NCBI chrNW_004936493:1,283,754...1,342,592
Ensembl chrNW_004936493:1,283,729...1,343,390 		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 chrNW_004936499:10,671,607...10,673,712
Ensembl chrNW_004936499:10,671,595...10,673,431 		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 chrNW_004936499:10,710,694...10,712,884 JBrowse link
G Tceal4 transcription elongation factor A like 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chrNW_004936499:10,740,406...10,742,748
Ensembl chrNW_004936499:10,741,053...10,741,631 		JBrowse link
G Tmsb15b thymosin beta 15B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chrNW_004936499:10,315,198...10,318,382 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 OMIM
ClinVar		 PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 More... NCBI chrNW_004936557:7,191,377...7,243,489
Ensembl chrNW_004936557:7,191,082...7,239,816 		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-galactosaminyltransferase 1 ISO ClinVar Annotator: match by term: B4GALNT1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 26 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:25741868 More... NCBI chrNW_004936646:1,770,412...1,777,152
Ensembl chrNW_004936646:1,770,930...1,777,173 		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 chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		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 OMIM
ClinVar		 PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 More... NCBI chrNW_004936697:1,786,023...1,863,084
Ensembl chrNW_004936697:1,786,017...1,860,614 		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 and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004936745:856,915...867,477
Ensembl chrNW_004936745:857,102...867,477 		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 chrNW_004936745:1,068,235...1,106,137 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...
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 chrNW_004936525:79,568...94,147
Ensembl chrNW_004936525:84,907...97,210 		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 chrNW_004936745:291,311...308,469
Ensembl chrNW_004936745:292,746...307,746 		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 chrNW_004936745:344,837...350,950
Ensembl chrNW_004936745:345,635...351,749 		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 chrNW_004936745:1,029,514...1,039,524 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 chrNW_004936525:905,419...983,486
Ensembl chrNW_004936525:921,725...983,377 		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 chrNW_004936745:1,291,702...1,295,834 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 chrNW_004936745:208,510...234,056
Ensembl chrNW_004936745:208,513...234,118 		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 chrNW_004936745:282,199...289,273 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 chrNW_004936745:1,063,365...1,064,590
Ensembl chrNW_004936745:1,063,359...1,064,826 		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 chrNW_004936525:324,814...330,067
Ensembl chrNW_004936525:323,090...329,664 		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 chrNW_004936525:352,389...380,214
Ensembl chrNW_004936525:352,389...380,214 		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 chrNW_004936745:427,093...504,653
Ensembl chrNW_004936745:426,846...504,672 		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...
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 chrNW_004936745:1,118,732...1,127,169 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 chrNW_004936745:993,375...994,292
Ensembl chrNW_004936745:993,375...994,373 		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 chrNW_004936745:1,730,743...1,942,071
Ensembl chrNW_004936745:1,730,694...1,942,074 		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 chrNW_004936745:555,020...608,572
Ensembl chrNW_004936745:555,710...607,135 		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 chrNW_004936525:267,791...269,511
Ensembl chrNW_004936525:267,753...269,527 		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 chrNW_004936525:303,436...322,677
Ensembl chrNW_004936525:303,499...322,563 		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 chrNW_004936745:261,371...271,447
Ensembl chrNW_004936745:261,450...271,943 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:9536098 PMID:16081310 PMID:16199547 PMID:16434418 PMID:17576681 More... NCBI chrNW_004936745:911,651...976,878
Ensembl chrNW_004936745:911,709...974,199 		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 chrNW_004936525:337,473...347,860
Ensembl chrNW_004936525:337,308...347,906 		JBrowse link
G LOC101961398 olfactory receptor 6B3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004936745:1,402,693...1,412,517 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 chrNW_004936525:593,048...663,066
Ensembl chrNW_004936525:593,054...662,958 		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 chrNW_004936745:845,240...852,776
Ensembl chrNW_004936745:844,883...852,803 		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 chrNW_004936525:776,102...821,067
Ensembl chrNW_004936525:775,955...821,085 		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 chrNW_004936745:705,448...709,429 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 chrNW_004936745:1,436,257...1,471,785
Ensembl chrNW_004936745:1,436,234...1,471,843 		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 chrNW_004936745:172,983...175,470 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 chrNW_004936745:1,287,653...1,290,342
Ensembl chrNW_004936745:1,289,041...1,290,077 		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 chrNW_004936745:664,062...704,027 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 chrNW_004936745:152,571...163,712
Ensembl chrNW_004936745:152,612...161,587 		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 chrNW_004936525:221,601...263,284
Ensembl chrNW_004936525:221,510...263,295 		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 chrNW_004936745:639,379...663,926 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... Ensembl chrNW_004936525:770,177...770,863 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 chrNW_004936525:748,851...765,636
Ensembl chrNW_004936525:748,600...765,642 		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 chrNW_004936525:503,119...540,159
Ensembl chrNW_004936525:503,070...540,281 		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 chrNW_004936525:556,497...585,503
Ensembl chrNW_004936525:556,513...569,589 		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 chrNW_004936745:1,049,917...1,058,817
Ensembl chrNW_004936745:1,049,924...1,058,825 		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 chrNW_004936525:381,188...407,544
Ensembl chrNW_004936525:381,168...407,599 		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 chrNW_004936745:518,650...555,187
Ensembl chrNW_004936745:518,391...546,953 		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 chrNW_004936745:709,446...761,932
Ensembl chrNW_004936745:714,368...776,355 		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 chrNW_004936745:420,591...426,890
Ensembl chrNW_004936745:420,073...426,393 		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 chrNW_004936745:324,988...338,257
Ensembl chrNW_004936745:316,748...338,142 		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 chrNW_004936525:115,614...174,641
Ensembl chrNW_004936525:115,479...174,694 		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 chrNW_004936745:2,067,272...2,067,948
Ensembl chrNW_004936745:2,028,286...2,067,948 		JBrowse link
G Ube2f ubiquitin conjugating enzyme E2 F (putative) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004936525:418,554...472,850 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 chrNW_004936712:1,529,508...1,552,148
Ensembl chrNW_004936712:1,529,420...1,552,185 		JBrowse link
G CUNH2orf68 chromosome unknown C2orf68 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chrNW_004936712:1,663,700...1,665,075
Ensembl chrNW_004936712:1,663,700...1,665,081 		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 chrNW_004936712:1,696,264...1,709,087
Ensembl chrNW_004936712:1,699,750...1,709,087 		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 chrNW_004936712:1,257,427...1,301,045
Ensembl chrNW_004936712:1,257,575...1,300,729 		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 chrNW_004936712:1,710,513...1,717,339
Ensembl chrNW_004936712:1,709,716...1,717,499 		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 chrNW_004936712:1,247,819...1,254,754
Ensembl chrNW_004936712:1,243,474...1,254,808 		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 chrNW_004936712:1,331,016...1,390,544
Ensembl chrNW_004936712:1,331,073...1,389,856 		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 chrNW_004936712:1,305,085...1,330,705
Ensembl chrNW_004936712:1,305,054...1,330,757 		JBrowse link
G Reep1 receptor accessory protein 1 ISO 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
ClinVar		 PMID:9536098 PMID:16199547 PMID:16826527 PMID:17576681 PMID:18321925 More... NCBI chrNW_004936712:1,186,565...1,241,829
Ensembl chrNW_004936712:1,206,276...1,241,301 		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 chrNW_004936712:1,673,977...1,676,601
Ensembl chrNW_004936712:1,670,472...1,676,580 		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 chrNW_004936712:1,614,979...1,621,207
Ensembl chrNW_004936712:1,614,979...1,622,466 		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 chrNW_004936712:1,458,637...1,496,118
Ensembl chrNW_004936712:1,482,002...1,499,064 		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 chrNW_004936712:1,670,485...1,674,019
Ensembl chrNW_004936712:1,670,472...1,675,708 		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 chrNW_004936712:1,625,429...1,661,561
Ensembl chrNW_004936712:1,625,802...1,661,533 		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 chrNW_004936712:1,679,276...1,686,157
Ensembl chrNW_004936712:1,679,232...1,686,268 		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 chrNW_004936712:1,688,126...1,689,742
Ensembl chrNW_004936712:1,688,093...1,689,816 		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 chrNW_004936474:3,968,216...3,980,821
Ensembl chrNW_004936474:3,968,506...3,980,815 		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 chrNW_004936636:1,979,287...2,003,696
Ensembl chrNW_004936636:1,979,172...2,003,769 		JBrowse link
hereditary spastic paraplegia 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: FA2H-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19068277 More... NCBI chrNW_004936475:23,625,023...23,675,211
Ensembl chrNW_004936475:23,624,969...23,675,235 		JBrowse link
G LOC101973126 cytochrome P450 2U1 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 chrNW_004936818:650,593...672,349
Ensembl chrNW_004936818:650,589...672,355 		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 chrNW_004936588:4,522,517...4,572,551
Ensembl chrNW_004936588:4,514,691...4,572,518 		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 chrNW_004936588:4,600,344...4,608,793
Ensembl chrNW_004936588:4,600,344...4,608,787 		JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chrNW_004936588:4,574,220...4,580,195
Ensembl chrNW_004936588:4,574,612...4,580,222 		JBrowse link
G Pnpla6 patatin like domain 6, lysophospholipase 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 OMIM
ClinVar		 PMID:2557489 PMID:3963113 PMID:8053762 PMID:9536098 PMID:16199547 More... NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183 		JBrowse link
G Saxo5 stabilizer of axonemal microtubules 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chrNW_004936588:4,585,737...4,589,892
Ensembl chrNW_004936588:4,585,951...4,589,865 		JBrowse link
G Znf358 zinc finger protein 358 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chrNW_004936588:4,592,060...4,598,775
Ensembl chrNW_004936588:4,597,045...4,598,700 		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 OMIM
ClinVar		 PMID:2720292 PMID:4684346 PMID:8252041 PMID:8981948 PMID:9246006 More... NCBI chrNW_004936495:14,984,761...15,053,188
Ensembl chrNW_004936495:14,984,336...15,040,597 		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 chrNW_004936487:2,287,736...2,335,674
Ensembl chrNW_004936487:2,255,882...2,335,731 		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 chrNW_004936495:15,053,275...15,159,011
Ensembl chrNW_004936495:15,053,275...15,159,011 		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 chrNW_004936493:903,295...1,115,434
Ensembl chrNW_004936493:899,961...1,115,493 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chrNW_004936506:8,886,494...8,923,921
Ensembl chrNW_004936506:8,886,494...8,923,930 		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 chrNW_004936493:1,378,104...1,390,414
Ensembl chrNW_004936493:1,377,682...1,391,102 		JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chrNW_004936576:1,343,657...1,352,085
Ensembl chrNW_004936576:1,343,661...1,352,143 		JBrowse link
G LOC101971027 neuroendocrine secretory protein 55 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:8388883 PMID:23281139 PMID:25741868 PMID:25802881 PMID:28492532 More... NCBI chrNW_004936530:1,353,432...1,407,437 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 chrNW_004936493:253,390...640,140
Ensembl chrNW_004936493:253,216...640,140 		JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chrNW_004936493:1,396,106...1,506,716
Ensembl chrNW_004936493:1,449,152...1,506,716 		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 chrNW_004936493:1,189,940...1,233,408
Ensembl chrNW_004936493:1,206,374...1,237,412 		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 chrNW_004936470:3,292,961...3,331,915
Ensembl chrNW_004936470:3,292,249...3,331,800 		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 chrNW_004936691:716,723...767,960
Ensembl chrNW_004936691:716,697...768,016 		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 chrNW_004936493:1,235,162...1,279,812
Ensembl chrNW_004936493:1,232,546...1,279,855 		JBrowse link
G Spast spastin ISO 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
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
ClinVar		 PMID:2504538 PMID:9536098 PMID:9695811 PMID:10493830 PMID:10610178 More... NCBI chrNW_004936493:1,283,754...1,342,592
Ensembl chrNW_004936493:1,283,729...1,343,390 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chrNW_004936493:1,663,999...1,708,530
Ensembl chrNW_004936493:1,663,911...1,708,502 		JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chrNW_004936497:8,410,882...8,765,678
Ensembl chrNW_004936497:8,410,860...8,764,296 		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 chrNW_004936470:3,278,415...3,292,905 JBrowse link
G Ttc27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chrNW_004936493:736,303...889,951
Ensembl chrNW_004936493:735,267...889,951 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238 		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 chrNW_004936493:1,152,459...1,177,964
Ensembl chrNW_004936493:1,151,979...1,177,983 		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 OMIM
ClinVar		 PMID:19061983 PMID:24583203 PMID:25402622 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936519:3,038,895...3,061,215
Ensembl chrNW_004936519:3,036,106...3,061,271 		JBrowse link
hereditary spastic paraplegia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH19orf12 chromosome unknown C19orf12 homolog 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 chrNW_004936570:5,628,593...5,640,982
Ensembl chrNW_004936570:5,628,515...5,641,056 		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 OMIM
ClinVar		 PMID:19056803 PMID:25741868 PMID:27057822 PMID:28492532 PMID:34055681 NCBI chrNW_004936864:67,608...71,543
Ensembl chrNW_004936864:69,445...70,752 		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 chrNW_004936600:2,898,321...3,037,414
Ensembl chrNW_004936600:2,904,410...3,036,132 		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 chrNW_004936600:2,828,277...2,892,795 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 chrNW_004936514:10,799,002...10,807,132
Ensembl chrNW_004936514:10,798,671...10,807,132 		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 chrNW_004936524:3,730,833...3,742,526
Ensembl chrNW_004936524:3,730,833...3,742,531 		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 chrNW_004936627:33,350...57,231
Ensembl chrNW_004936627:33,350...57,166 		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 chrNW_004936690:2,255,159...2,265,833
Ensembl chrNW_004936690:2,255,159...2,265,847 		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 chrNW_004936690:2,900,003...2,913,427
Ensembl chrNW_004936690:2,900,002...2,913,381 		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 chrNW_004936690:2,245,609...2,250,622
Ensembl chrNW_004936690:2,241,428...2,248,922 		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 chrNW_004936690:1,184,644...1,223,732 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 chrNW_004936627:85,894...122,592 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 chrNW_004936690:982,414...1,034,947
Ensembl chrNW_004936690:982,402...1,035,005 		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 chrNW_004936690:2,914,443...2,970,127
Ensembl chrNW_004936690:2,916,287...2,958,458 		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 chrNW_004936690:2,293,740...2,353,450
Ensembl chrNW_004936690:2,265,849...2,274,199
Ensembl chrNW_004936690:2,265,849...2,274,199 		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 chrNW_004936690:417,907...627,025
Ensembl chrNW_004936690:422,883...621,308 		JBrowse link
G LOC101966363 monocarboxylate transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chrNW_004936690:1,448,289...1,461,525
Ensembl chrNW_004936690:1,450,092...1,461,481 		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 chrNW_004936690:1,591,741...1,642,183
Ensembl chrNW_004936690:1,591,965...1,641,544 		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 chrNW_004936690:1,229,249...1,254,754 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 chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590 		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 chrNW_004936690:2,354,416...2,357,904
Ensembl chrNW_004936690:2,354,748...2,357,945 		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 chrNW_004936690:2,091,427...2,129,758
Ensembl chrNW_004936690:2,091,424...2,128,561 		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 chrNW_004936690:1,263,949...1,269,707
Ensembl chrNW_004936690:1,263,925...1,269,764 		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 chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958 		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 chrNW_004936690:1,255,126...1,258,288 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 chrNW_004936690:2,130,226...2,178,796
Ensembl chrNW_004936690:2,130,206...2,178,737 		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 chrNW_004936627:138,163...144,469
Ensembl chrNW_004936627:134,775...144,466 		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 chrNW_004936690:1,018,324...1,184,703
Ensembl chrNW_004936690:1,024,599...1,184,090 		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 chrNW_004936627:239,232...365,062 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 chrNW_004936690:2,435,573...2,497,332
Ensembl chrNW_004936690:2,435,541...2,497,553 		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 chrNW_004936690:1,273,255...1,281,362
Ensembl chrNW_004936690:1,274,868...1,284,991 		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 chrNW_004936690:2,709,059...2,898,399
Ensembl chrNW_004936690:2,709,061...2,830,450 		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 chrNW_004936627:399,191...404,371
Ensembl chrNW_004936627:396,215...401,650 		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 chrNW_004936470:22,667,354...22,725,538
Ensembl chrNW_004936470:22,667,127...22,725,749 		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 chrNW_004936690:1,077,538...1,094,005
Ensembl chrNW_004936690:1,079,227...1,097,041 		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 ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 OMIM
ClinVar		 PMID:3286 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20613862 More... NCBI chrNW_004936765:1,112,333...1,123,244
Ensembl chrNW_004936765:1,111,882...1,123,316 		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 chrNW_004936835:608,461...613,157
Ensembl chrNW_004936835:611,156...612,918 		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 chrNW_004936835:525,198...604,685
Ensembl chrNW_004936835:524,802...607,365 		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: Hereditary spastic paraplegia 50
ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 		OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 More... NCBI chrNW_004936543:246,335...250,278
Ensembl chrNW_004936543:246,335...254,975 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854 		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 chrNW_004936543:238,573...246,746
Ensembl chrNW_004936543:233,960...246,746 		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 chrNW_004936471:12,857,259...12,919,615
Ensembl chrNW_004936471:12,857,323...12,916,718 		JBrowse link
G Sppl2a signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chrNW_004936471:12,700,777...12,730,509
Ensembl chrNW_004936471:12,701,014...12,729,995 		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 chrNW_004936494:5,720,474...5,758,888 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 chrNW_004936554:104,666...141,761
Ensembl chrNW_004936554:104,229...141,512 		JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936555:4,285,269...4,307,715
Ensembl chrNW_004936555:4,285,269...4,310,858 		JBrowse link
G Cnot7 CCR4-NOT transcription complex subunit 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936573:6,288,397...6,305,984
Ensembl chrNW_004936573:6,288,397...6,306,706 		JBrowse link
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936555:3,639,459...3,807,483
Ensembl chrNW_004936555:3,637,630...3,807,488 		JBrowse link
G Fgf20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936573:6,055,261...6,062,764
Ensembl chrNW_004936573:6,055,261...6,062,764 		JBrowse link
G Fgl1 fibrinogen like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936614:431,537...452,174
Ensembl chrNW_004936614:431,631...450,034 		JBrowse link
G Ints10 integrator complex subunit 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936555:3,985,363...4,018,421
Ensembl chrNW_004936555:3,985,447...4,018,450 		JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936555:4,084,099...4,108,219
Ensembl chrNW_004936555:4,084,099...4,108,365 		JBrowse link
G Lzts1 leucine zipper tumor suppressor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936555:4,330,878...4,384,883
Ensembl chrNW_004936555:4,330,787...4,384,932 		JBrowse link
G Micu3 mitochondrial calcium uptake family member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936573:6,081,811...6,178,812
Ensembl chrNW_004936573:6,081,808...6,174,523 		JBrowse link
G Mtmr7 myotubularin related protein 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936573:6,346,106...6,434,697
Ensembl chrNW_004936573:6,346,792...6,434,472 		JBrowse link
G Mtus1 microtubule associated scaffold protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936614:242,710...387,541
Ensembl chrNW_004936614:240,113...387,730 		JBrowse link
G Pcm1 pericentriolar material 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936554:7,906...86,187
Ensembl chrNW_004936554:7,938...87,756 		JBrowse link
G Pdgfrl platelet derived growth factor receptor like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936614:195,058...241,748
Ensembl chrNW_004936614:195,030...240,502 		JBrowse link
G Psd3 pleckstrin and Sec7 domain containing 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936555:2,955,982...3,253,064
Ensembl chrNW_004936555:2,963,963...3,284,619 		JBrowse link
G Sh2d4a SH2 domain containing 4A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936555:3,572,723...3,634,484
Ensembl chrNW_004936555:3,572,694...3,636,161 		JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936555:4,249,821...4,271,379
Ensembl chrNW_004936555:4,249,821...4,271,379 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936614:111,625...184,571
Ensembl chrNW_004936614:157,828...184,583 		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 chrNW_004936573:6,306,218...6,343,544
Ensembl chrNW_004936573:6,306,536...6,340,271 		JBrowse link
G Zdhhc2 zDHHC palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chrNW_004936573:6,216,084...6,280,142
Ensembl chrNW_004936573:6,216,078...6,282,052 		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 chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695 		JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:1,258,088...1,296,346
Ensembl chrNW_004936710:1,257,931...1,298,885 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:1,410,589...1,413,279
Ensembl chrNW_004936710:1,411,446...1,413,098 		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 chrNW_004936710:1,489,483...1,519,469
Ensembl chrNW_004936710:1,489,522...1,518,849 		JBrowse link
G Bag4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:1,551,729...1,575,393
Ensembl chrNW_004936710:1,551,738...1,575,393 		JBrowse link
G Brf2 BRF2 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:1,296,475...1,301,752
Ensembl chrNW_004936710:1,293,129...1,301,048 		JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16636240 PMID:17576681 PMID:23176823 More... NCBI chrNW_004936710:1,593,899...1,616,572
Ensembl chrNW_004936710:1,593,946...1,618,828 		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 chrNW_004936710:1,446,030...1,461,945 JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:1,193,679...1,210,059
Ensembl chrNW_004936710:1,193,411...1,210,739 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508 		JBrowse link
G Got1l1 glutamic-oxaloacetic transaminase 1 like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:1,388,743...1,393,791
Ensembl chrNW_004936710:1,388,743...1,393,758 		JBrowse link
G Htra4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:2,280,804...2,292,399
Ensembl chrNW_004936710:2,280,714...2,292,468 		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 chrNW_004936710:1,736,010...1,758,480
Ensembl chrNW_004936710:1,736,721...1,758,693 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:1,546,027...1,551,685
Ensembl chrNW_004936710:1,545,790...1,552,394 		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 chrNW_004936710:1,629,178...1,732,827
Ensembl chrNW_004936710:1,631,234...1,732,827 		JBrowse link
G Plekha2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:2,210,683...2,280,522
Ensembl chrNW_004936710:2,223,941...2,276,792 		JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:1,216,142...1,236,559
Ensembl chrNW_004936710:1,216,104...1,238,153 		JBrowse link
G Plpp5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:1,619,975...1,625,426
Ensembl chrNW_004936710:1,620,012...1,624,737 		JBrowse link
G Rab11fip1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:1,306,430...1,338,502 JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:1,523,289...1,530,181
Ensembl chrNW_004936710:1,523,355...1,529,672 		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 chrNW_004936710:2,042,671...2,157,249 JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chrNW_004936710:2,298,233...2,301,239
Ensembl chrNW_004936710:2,297,247...2,301,232 		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 chrNW_004936558:1,470,781...1,482,885
Ensembl chrNW_004936558:1,470,775...1,483,344 		JBrowse link
hereditary spastic paraplegia 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101973126 cytochrome P450 2U1 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 chrNW_004936818:650,593...672,349
Ensembl chrNW_004936818:650,589...672,355 		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 chrNW_004936630:2,518,944...2,555,054
Ensembl chrNW_004936630:2,515,822...2,555,299 		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 chrNW_004936471:12,463,189...12,524,148
Ensembl chrNW_004936471:12,463,120...12,520,674 		JBrowse link
hereditary spastic paraplegia 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH19orf12 chromosome unknown C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:21981780 PMID:25741868 PMID:28492532 PMID:39825153 NCBI chrNW_004936570:5,628,593...5,640,982
Ensembl chrNW_004936570:5,628,515...5,641,056 		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 chrNW_004936524:3,730,833...3,742,526
Ensembl chrNW_004936524:3,730,833...3,742,531 		JBrowse link
G LOC101955077 cytochrome P450 7B1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A OMIM
ClinVar		 PMID:1943942 PMID:7987300 PMID:9536098 PMID:9802883 PMID:12874406 More... NCBI chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089 		JBrowse link
G LOC101973126 cytochrome P450 2U1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chrNW_004936818:650,593...672,349
Ensembl chrNW_004936818:650,589...672,355 		JBrowse link
G LOC101975532 delta-1-pyrroline-5-carboxylate synthase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936636:3,779,259...3,800,846
Ensembl chrNW_004936636:3,760,326...3,801,073 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chrNW_004936588:4,600,344...4,608,793
Ensembl chrNW_004936588:4,600,344...4,608,787 		JBrowse link
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:28492532 NCBI chrNW_004936531:7,601,869...7,608,658
Ensembl chrNW_004936531:7,601,728...7,608,696 		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 chrNW_004936471:38,264,455...38,331,995
Ensembl chrNW_004936471:38,267,703...38,332,218 		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 OMIM
ClinVar		 PMID:7825577 PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 More... NCBI chrNW_004936471:38,363,521...38,403,647
Ensembl chrNW_004936471:38,364,940...38,407,314 		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 chrNW_004936471:38,332,371...38,359,239 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 chrNW_004936471:38,180,670...38,215,972
Ensembl chrNW_004936471:38,181,252...38,216,306 		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 chrNW_004936501:4,648,699...4,670,786
Ensembl chrNW_004936501:4,661,308...4,671,306 		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 chrNW_004936636:80,583...116,027
Ensembl chrNW_004936636:80,564...116,694 		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 chrNW_004936704:1,438,781...1,477,541
Ensembl chrNW_004936704:1,438,781...1,478,075 		JBrowse link
G Aknad1 AKNA domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:406,678...441,791 JBrowse link
G Alx3 ALX homeobox 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:1,519,932...1,530,470
Ensembl chrNW_004936704:1,520,639...1,530,470 		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 chrNW_004936704:992,858...998,200
Ensembl chrNW_004936704:991,306...998,198 		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 chrNW_004936704:1,092,180...1,111,722
Ensembl chrNW_004936704:1,099,816...1,113,887 		JBrowse link
G Atxn7l2 ataxin 7 like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:972,594...981,290
Ensembl chrNW_004936704:972,242...981,217 		JBrowse link
G Cd53 CD53 molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:2,263,248...2,285,625
Ensembl chrNW_004936704:2,262,945...2,285,631 		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 chrNW_004936704:779,528...803,860
Ensembl chrNW_004936704:778,480...803,886 		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 chrNW_004936704:646,056...652,433
Ensembl chrNW_004936704:645,833...652,512 		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 chrNW_004936704:518,040...539,526
Ensembl chrNW_004936704:517,707...539,585 		JBrowse link
G Csf1 colony stimulating factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:1,372,137...1,393,355
Ensembl chrNW_004936704:1,378,103...1,393,542 		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 chrNW_004936704:2,488,370...2,513,042
Ensembl chrNW_004936704:2,490,902...2,505,547 		JBrowse link
G Eeig2 EEIG family member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:148,782...230,314
Ensembl chrNW_004936704:151,458...226,205 		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 chrNW_004936704:653,434...736,660
Ensembl chrNW_004936704:653,403...739,151 		JBrowse link
G Eps8l3 EPS8 signaling adaptor L3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:1,241,341...1,251,702 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 chrNW_004936704:300,128...325,028
Ensembl chrNW_004936704:294,810...324,045 		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 chrNW_004936704:1,031,476...1,075,662
Ensembl chrNW_004936704:1,032,708...1,074,384 		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 chrNW_004936704:1,079,255...1,093,732
Ensembl chrNW_004936704:1,084,587...1,093,691 		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 chrNW_004936704:1,023,760...1,031,418
Ensembl chrNW_004936704:1,023,760...1,028,687 		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 chrNW_004936704:462,984...516,929
Ensembl chrNW_004936704:462,971...516,829 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:1,233,909...1,236,864
Ensembl chrNW_004936704:1,233,780...1,237,329 		JBrowse link
G Henmt1 HEN methyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:242,262...256,739 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 chrNW_004936704:1,933,620...1,935,541
Ensembl chrNW_004936704:1,933,625...1,935,160 		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 chrNW_004936704:2,007,577...2,019,520
Ensembl chrNW_004936704:2,007,577...2,017,764 		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 chrNW_004936704:2,083,037...2,085,917
Ensembl chrNW_004936704:2,084,436...2,085,923 		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 chrNW_004936704:1,667,387...1,689,337
Ensembl chrNW_004936704:1,667,387...1,689,348 		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 chrNW_004936704:1,830,470...1,835,966
Ensembl chrNW_004936704:1,830,470...1,835,994 		JBrowse link
G LOC101956607 cytochrome b561 domain-containing protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:981,893...989,177
Ensembl chrNW_004936704:982,800...988,297 		JBrowse link
G LOC101958900 glutathione S-transferase Mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:1,142,990...1,150,491
Ensembl chrNW_004936704:1,143,010...1,148,567 		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 chrNW_004936704:2,313,923...2,334,839
Ensembl chrNW_004936704:2,319,145...2,333,400 		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 chrNW_004936704:815,325...831,149
Ensembl chrNW_004936704:815,271...830,084 		JBrowse link
G Prok1 prokineticin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:1,876,560...1,881,439
Ensembl chrNW_004936704:1,876,560...1,881,419 		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 chrNW_004936704:272,998...282,189
Ensembl chrNW_004936704:273,282...281,010 		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 chrNW_004936704:905,277...928,364
Ensembl chrNW_004936704:905,248...929,215 		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 chrNW_004936704:805,864...810,035
Ensembl chrNW_004936704:805,874...810,185 		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 chrNW_004936704:1,779,981...1,787,339
Ensembl chrNW_004936704:1,779,482...1,788,710 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:747,109...766,981
Ensembl chrNW_004936704:746,775...771,305 		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 chrNW_004936704:1,801,209...1,827,103
Ensembl chrNW_004936704:1,802,340...1,824,470 		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 chrNW_004936731:173,366...224,156
Ensembl chrNW_004936731:173,337...224,239 		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 chrNW_004936704:1,606,418...1,654,026
Ensembl chrNW_004936704:1,622,504...1,654,026 		JBrowse link
G Sort1 sortilin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:832,651...901,658
Ensembl chrNW_004936704:837,057...901,392 		JBrowse link
G Strip1 striatin interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:1,495,525...1,514,942
Ensembl chrNW_004936704:1,495,495...1,515,037 		JBrowse link
G Stxbp3 syntaxin binding protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:330,195...396,913
Ensembl chrNW_004936704:330,078...397,059 		JBrowse link
G Sypl2 synaptophysin like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:956,589...970,957
Ensembl chrNW_004936704:956,589...971,058 		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 chrNW_004936704:613,261...623,407
Ensembl chrNW_004936704:613,261...623,401 		JBrowse link
G Tmem167b transmembrane protein 167B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:631,909...638,185
Ensembl chrNW_004936704:631,836...638,525 		JBrowse link
G Ubl4b ubiquitin like 4B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:1,569,302...1,570,452 JBrowse link
G Wdr47 WD repeat domain 47 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chrNW_004936704:543,189...603,488
Ensembl chrNW_004936704:543,196...603,488 		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 chrNW_004936641:569,002...661,935
Ensembl chrNW_004936641:627,398...661,137 		JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:39825153 NCBI chrNW_004936474:26,484,316...26,492,652
Ensembl chrNW_004936474:26,481,211...26,493,019 		JBrowse link
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin ISO OMIM:607259 MouseDO NCBI chrNW_004936641:451,762...484,229
Ensembl chrNW_004936641:452,475...484,220 		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 chrNW_004936646:1,629,814...1,637,535
Ensembl chrNW_004936646:1,630,029...1,638,571 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive ClinVar
OMIM		 PMID:24482476 PMID:25741868 PMID:28492532 PMID:28708278 PMID:34585293 NCBI chrNW_004936646:1,644,457...1,665,081
Ensembl chrNW_004936646:1,644,457...1,665,086 		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 chrNW_004936531:7,601,869...7,608,658
Ensembl chrNW_004936531:7,601,728...7,608,696 		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 chrNW_004936664:3,505,146...3,526,286
Ensembl chrNW_004936664:3,505,106...3,529,678 		JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 ClinVar PMID:25741868 NCBI chrNW_004936475:262,558...299,766
Ensembl chrNW_004936475:262,920...297,459 		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 chrNW_004936864:50,033...63,540
Ensembl chrNW_004936864:49,889...63,481 		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 chrNW_004936922:44,201...49,792
Ensembl chrNW_004936922:44,807...49,834 		JBrowse link
G Aplp1 amyloid beta precursor like protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:475,446...484,379
Ensembl chrNW_004936570:474,902...484,188 		JBrowse link
G Arhgap33 Rho GTPase activating protein 33 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:539,839...553,018
Ensembl chrNW_004936570:539,830...553,086 		JBrowse link
G Atp4a ATPase H+/K+ transporting subunit alpha ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:802,170...815,023
Ensembl chrNW_004936570:802,170...814,056 		JBrowse link
G Capns1 calpain small subunit 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936922:151,791...161,655
Ensembl chrNW_004936922:151,599...164,787 		JBrowse link
G Cd22 CD22 molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:960,592...971,688
Ensembl chrNW_004936570:960,746...969,049 		JBrowse link
G Cebpa CCAAT enhancer binding protein alpha ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:2,513,561...2,516,213 JBrowse link
G Cebpg CCAAT enhancer binding protein gamma ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:2,435,672...2,439,056
Ensembl chrNW_004936570:2,438,187...2,438,639 		JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:2,837,002...2,909,128
Ensembl chrNW_004936570:2,837,144...2,907,986 		JBrowse link
G Chst8 carbohydrate sulfotransferase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:2,125,111...2,242,172
Ensembl chrNW_004936570:2,125,097...2,242,218 		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 chrNW_004936922:50,230...63,215
Ensembl chrNW_004936922:49,894...63,158 		JBrowse link
G Dmkn dermokine ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:846,229...859,732
Ensembl chrNW_004936570:846,146...859,759 		JBrowse link
G Etv2 ETS variant transcription factor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:671,152...673,768 JBrowse link
G Faap24 FA core complex associated protein 24 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:2,834,059...2,834,436 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 chrNW_004936570:1,049,651...1,053,074
Ensembl chrNW_004936570:1,043,447...1,053,074 		JBrowse link
G Ffar1 free fatty acid receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:955,102...957,437 JBrowse link
G Ffar3 free fatty acid receptor 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:949,575...951,442 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 chrNW_004936570:1,117,083...1,121,059
Ensembl chrNW_004936570:1,117,816...1,118,860 		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 chrNW_004936570:1,132,185...1,137,676
Ensembl chrNW_004936570:1,132,150...1,138,146 		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 chrNW_004936570:1,095,373...1,104,618 JBrowse link
G Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:819,562...830,072
Ensembl chrNW_004936570:819,387...829,087 		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 chrNW_004936570:1,616,736...1,704,067
Ensembl chrNW_004936570:1,615,940...1,695,535 		JBrowse link
G Gpatch1 G-patch domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:2,704,848...2,754,256
Ensembl chrNW_004936570:2,705,096...2,753,880 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:1,582,120...1,608,537
Ensembl chrNW_004936570:1,579,372...1,608,788 		JBrowse link
G Gramd1a GRAM domain containing 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:1,199,292...1,222,323
Ensembl chrNW_004936570:1,199,095...1,222,162 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686 		JBrowse link
G Hcst hematopoietic cell signal transducer ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:460,890...462,354
Ensembl chrNW_004936570:460,986...462,269 		JBrowse link
G Hpn hepsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:1,170,951...1,186,501
Ensembl chrNW_004936570:1,170,943...1,186,500 		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 chrNW_004936570:568,708...571,099
Ensembl chrNW_004936570:567,860...571,402 		JBrowse link
G Igflr1 IGF like family receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:580,405...583,874 JBrowse link
G Kctd15 potassium channel tetramerization domain containing 15 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:2,080,549...2,096,929
Ensembl chrNW_004936570:2,080,547...2,096,929 		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 chrNW_004936570:485,202...493,350
Ensembl chrNW_004936570:486,249...493,356 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:583,616...605,846
Ensembl chrNW_004936570:583,616...605,603 		JBrowse link
G Krtdap keratinocyte differentiation associated protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:866,334...869,279
Ensembl chrNW_004936570:866,301...869,281 		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 chrNW_004936570:1,122,987...1,131,270
Ensembl chrNW_004936570:1,123,298...1,132,011 		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 chrNW_004936570:571,146...575,539
Ensembl chrNW_004936570:567,860...575,788 		JBrowse link
G LOC101965810 cytochrome c oxidase subunit 7A1, mitochondrial ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936922:162,282...163,864
Ensembl chrNW_004936922:162,286...163,839 		JBrowse link
G LOC101969127 HAUS augmin-like complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:694,132...703,299
Ensembl chrNW_004936570:693,379...703,256 		JBrowse link
G LOC101971238 free fatty acid receptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:895,364...896,356
Ensembl chrNW_004936570:895,364...896,356 		JBrowse link
G LOC101972214 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936543:399,447...399,911 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 chrNW_004936570:419,664...426,339
Ensembl chrNW_004936570:419,541...426,345 		JBrowse link
G Lrp3 LDL receptor related protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:2,590,893...2,602,749
Ensembl chrNW_004936570:2,587,284...2,601,203 		JBrowse link
G Lsm14a LSM14A mRNA processing body assembly factor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:1,723,966...1,791,784
Ensembl chrNW_004936570:1,729,841...1,791,778 		JBrowse link
G Lsr lipolysis stimulated lipoprotein receptor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:1,023,967...1,038,223
Ensembl chrNW_004936570:1,023,960...1,038,587 		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 chrNW_004936570:989,743...1,004,820 JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:464,513...471,333
Ensembl chrNW_004936570:463,974...471,344 		JBrowse link
G Nudt19 nudix hydrolase 19 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:3,018,465...3,026,763 JBrowse link
G Ovol3 ovo like zinc finger 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936922:128,196...130,197
Ensembl chrNW_004936922:128,196...130,197 		JBrowse link
G Pdcd2l programmed cell death 2 like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:1,557,645...1,579,075
Ensembl chrNW_004936570:1,557,687...1,578,593 		JBrowse link
G Pepd peptidase D ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:2,315,981...2,431,878
Ensembl chrNW_004936570:2,315,954...2,431,884 		JBrowse link
G Polr2i RNA polymerase II subunit I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936922:130,248...131,843
Ensembl chrNW_004936922:130,257...131,828 		JBrowse link
G Prodh2 proline dehydrogenase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:522,275...531,300
Ensembl chrNW_004936570:522,290...531,241 		JBrowse link
G Proser3 proline and serine rich 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:556,724...567,793
Ensembl chrNW_004936570:554,768...567,838 		JBrowse link
G Psenen presenilin enhancer, gamma-secretase subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:576,722...578,022
Ensembl chrNW_004936570:576,722...578,010 		JBrowse link
G Rbm42 RNA binding motif protein 42 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:676,775...685,415
Ensembl chrNW_004936570:676,537...685,419 		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 chrNW_004936570:3,042,233...3,043,884
Ensembl chrNW_004936570:3,042,773...3,043,480 		JBrowse link
G Rhpn2 rhophilin Rho GTPase binding protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:2,766,217...2,832,944
Ensembl chrNW_004936570:2,766,270...2,831,792 		JBrowse link
G Sbsn suprabasin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:833,789...838,637 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 chrNW_004936570:1,187,916...1,195,423
Ensembl chrNW_004936570:1,186,711...1,195,388 		JBrowse link
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936922:32,655...33,795
Ensembl chrNW_004936922:32,759...33,115 		JBrowse link
G Slc7a10 solute carrier family 7 member 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:2,575,784...2,589,808
Ensembl chrNW_004936570:2,575,386...2,593,299 		JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:2,917,389...2,944,452
Ensembl chrNW_004936570:2,917,709...2,944,158 		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 chrNW_004936922:40,640...44,414
Ensembl chrNW_004936922:40,684...44,312 		JBrowse link
G Tbcb tubulin folding cofactor B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936922:131,998...139,912
Ensembl chrNW_004936922:132,015...144,556 		JBrowse link
G Tdrd12 tudor domain containing 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:2,947,069...3,015,549
Ensembl chrNW_004936570:2,947,425...3,015,549 		JBrowse link
G Thap8 THAP domain containing 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936922:64,838...80,015 JBrowse link
G Tmem147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:817,389...819,285
Ensembl chrNW_004936570:817,034...819,418 		JBrowse link
G Tyrobp transmembrane immune signaling adaptor TYROBP ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:457,993...460,735
Ensembl chrNW_004936570:458,054...460,579 		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 chrNW_004936570:578,088...580,321
Ensembl chrNW_004936570:578,178...580,133 		JBrowse link
G Uba2 ubiquitin like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:1,502,701...1,548,967
Ensembl chrNW_004936570:1,502,703...1,548,966 		JBrowse link
G Upk1a uroplakin 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:633,933...641,429
Ensembl chrNW_004936570:634,067...642,605 		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 chrNW_004936570:1,012,696...1,024,243
Ensembl chrNW_004936570:1,012,654...1,024,288 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936922:80,136...119,702
Ensembl chrNW_004936922:80,217...119,653 		JBrowse link
G Wdr88 WD repeat domain 88 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:2,655,740...2,704,811 JBrowse link
G Wtip WT1 interacting protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:1,469,181...1,494,574
Ensembl chrNW_004936570:1,470,368...1,494,580 		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 chrNW_004936570:606,087...615,473 JBrowse link
G Znf181 zinc finger protein 181 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:1,392,578...1,400,727 JBrowse link
G Znf30 zinc finger protein 30 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:1,284,771...1,297,816 JBrowse link
G Znf599 zinc finger protein 599 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:1,350,656...1,365,707
Ensembl chrNW_004936570:1,350,488...1,365,865 		JBrowse link
G Znf792 zinc finger protein 792 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chrNW_004936570:1,259,949...1,269,036
Ensembl chrNW_004936570:1,264,858...1,268,163 		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 chrNW_004936599:4,178,963...4,201,037
Ensembl chrNW_004936599:4,178,901...4,201,052 		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 chrNW_004936534:6,703,760...7,205,204
Ensembl chrNW_004936534:6,703,749...7,087,658 		JBrowse link
G Lyrm4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive ClinVar PMID:25741868 NCBI chrNW_004936534:7,205,538...7,350,114
Ensembl chrNW_004936534:7,205,614...7,350,525 		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 chrNW_004936474:3,968,216...3,980,821
Ensembl chrNW_004936474:3,968,506...3,980,815 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35986737 PMID:37650884 NCBI chrNW_004936482:8,551,749...8,563,586
Ensembl chrNW_004936482:8,551,603...8,563,651 		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 OMIM
ClinVar		 PMID:3340629 PMID:4514348 PMID:10203348 PMID:10563640 PMID:12408865 More... NCBI chrNW_004936482:8,551,749...8,563,586
Ensembl chrNW_004936482:8,551,603...8,563,651 		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 chrNW_004936607:3,576,357...3,632,423
Ensembl chrNW_004936607:3,576,392...3,632,554 		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 chrNW_004936597:1,426,318...1,577,193
Ensembl chrNW_004936597:1,425,974...1,572,715 		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 chrNW_004936470:22,447,278...22,667,302
Ensembl chrNW_004936470:22,445,433...22,667,559 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936517:1,616,169...1,798,002
Ensembl chrNW_004936517:1,616,169...1,970,398 		JBrowse link
G Tbk1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chrNW_004936545:2,763,755...2,809,229
Ensembl chrNW_004936545:2,763,596...2,809,709 		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 OMIM
ClinVar		 PMID:7604842 PMID:9536098 PMID:10797436 PMID:16199547 PMID:17160902 More... NCBI chrNW_004936470:22,667,354...22,725,538
Ensembl chrNW_004936470:22,667,127...22,725,749 		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 ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant | ClinVar Annotator: match by term: UBAP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741869 PMID:30929741 PMID:31203368 PMID:31515522 More... NCBI chrNW_004936524:2,322,653...2,373,685
Ensembl chrNW_004936524:2,322,634...2,374,349 		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 chrNW_004936493:6,052,094...6,099,430
Ensembl chrNW_004936493:6,055,277...6,099,458 		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 chrNW_004936594:5,410,975...5,417,958
Ensembl chrNW_004936594:5,410,948...5,417,988 		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 chrNW_004936474:26,481,300...26,483,143
Ensembl chrNW_004936474:26,481,883...26,482,998 		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 chrNW_004936619:2,240,641...2,377,088
Ensembl chrNW_004936619:2,240,266...2,377,093 		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 chrNW_004937108:111,111...147,077
Ensembl chrNW_004937108:117,881...150,498 		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 chrNW_004936727:1,828,966...1,843,334
Ensembl chrNW_004936727:1,828,905...1,844,967 		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 chrNW_004936488:6,050,368...6,086,881
Ensembl chrNW_004936488:6,034,618...6,086,207 		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 chrNW_004936565:2,738,003...2,775,814
Ensembl chrNW_004936565:2,737,218...2,775,798 		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 chrNW_004936475:8,692,969...8,727,252
Ensembl chrNW_004936475:8,692,844...8,727,385 		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 chrNW_004936494:8,717,821...8,738,923
Ensembl chrNW_004936494:8,716,829...8,739,066 		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 ClinVar
OMIM		 NCBI chrNW_004936494:8,717,821...8,738,923
Ensembl chrNW_004936494:8,716,829...8,739,066 		JBrowse link
hereditary spastic paraplegia 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101975532 delta-1-pyrroline-5-carboxylate synthase 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 OMIM
ClinVar		 PMID:8779323 PMID:9643297 PMID:9973297 PMID:25741868 PMID:26026163 More... NCBI chrNW_004936636:3,779,259...3,800,846
Ensembl chrNW_004936636:3,760,326...3,801,073 		JBrowse link
hereditary spastic paraplegia 9B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101975532 delta-1-pyrroline-5-carboxylate synthase 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 chrNW_004936636:3,779,259...3,800,846
Ensembl chrNW_004936636:3,760,326...3,801,073 		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 chrNW_004936709:886,571...894,746
Ensembl chrNW_004936709:887,455...894,727 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome OMIM
ClinVar		 PMID:1303258 PMID:1870106 PMID:3460961 PMID:7493978 PMID:7562969 More... NCBI chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973 		JBrowse link
G Tubb3 tubulin beta 3 class III ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chrNW_004936641:184,736...193,835
Ensembl chrNW_004936641:184,765...193,819 		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 ClinVar Annotator: match by term: Mast syndrome | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:6024251 PMID:9536098 PMID:14564668 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936471:25,301,385...25,327,835 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 ClinVar
OMIM		 PMID:25741868 PMID:36965478 NCBI chrNW_004936669:1,405,306...1,428,222
Ensembl chrNW_004936669:1,405,275...1,425,248 		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 chrNW_004936709:1,304,843...1,313,191
Ensembl chrNW_004936709:1,304,971...1,313,770 		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 OMIM
ClinVar		 PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chrNW_004936709:1,297,820...1,304,793
Ensembl chrNW_004936709:1,297,743...1,304,899 		JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,732,223...2,747,408
Ensembl chrNW_004936677:2,730,874...2,747,406 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,809,057...2,813,838
Ensembl chrNW_004936677:2,808,799...2,813,290 		JBrowse link
G CUNH17orf107 chromosome unknown C17orf107 homolog ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,811,199...2,812,425
Ensembl chrNW_004936677:2,811,355...2,812,285 		JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,754,117...2,760,992
Ensembl chrNW_004936677:2,754,067...2,760,644 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,774,076...2,779,660 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 chrNW_004936677:2,721,451...2,730,398
Ensembl chrNW_004936677:2,721,443...2,730,527 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17273843 PMID:17576681 PMID:24319291 More... NCBI chrNW_004936677:2,696,385...2,720,959
Ensembl chrNW_004936677:2,696,209...2,720,959 		JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,762,971...2,766,038
Ensembl chrNW_004936677:2,762,971...2,766,149 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,766,724...2,771,111
Ensembl chrNW_004936677:2,766,907...2,770,225 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,770,969...2,773,973
Ensembl chrNW_004936677:2,770,964...2,776,022 		JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,747,476...2,753,183
Ensembl chrNW_004936677:2,747,506...2,753,185 		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 ClinVar Annotator: match by term: Spastic ataxia 3 OMIM
ClinVar		 PMID:22448145 PMID:25741868 PMID:28492532 NCBI chrNW_004936506:1,550,068...1,552,776
Ensembl chrNW_004936506:1,550,957...1,552,738 		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 chrNW_004936688:1,987,075...2,079,148
Ensembl chrNW_004936688:1,987,054...2,079,173 		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 chrNW_004936745:911,651...976,878
Ensembl chrNW_004936745:911,709...974,199 		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 OMIM
ClinVar		 PMID:9536098 PMID:16434418 PMID:17576681 PMID:21376300 PMID:21487076 More... NCBI chrNW_004936745:911,651...976,878
Ensembl chrNW_004936745:911,709...974,199 		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 chrNW_004936487:16,071,043...16,142,662
Ensembl chrNW_004936487:16,070,996...16,142,662 		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 chrNW_004936769:444,122...448,016
Ensembl chrNW_004936769:444,051...452,149 		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 chrNW_004936491:13,680,669...13,712,924
Ensembl chrNW_004936491:13,679,629...13,712,988 		JBrowse link
Spastic paraplegia 94, autosomal recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef1d eukaryotic translation elongation factor 1 delta ISO OMIM NCBI chrNW_004936470:8,538,899...8,553,645
Ensembl chrNW_004936470:8,538,821...8,553,970 		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 chrNW_004936541:1,265,915...1,275,232
Ensembl chrNW_004936541:1,265,436...1,275,296 		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 chrNW_004936532:5,270,338...5,368,160
Ensembl chrNW_004936532:5,272,149...5,362,814 		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 chrNW_004936689:429,907...1,080,226
Ensembl chrNW_004936689:430,293...1,079,838 		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 chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867 		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 ClinVar Annotator: match by term: SLC1A4-related condition | ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly OMIM
ClinVar		 PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chrNW_004936491:9,761,002...9,790,535
Ensembl chrNW_004936491:9,760,952...9,790,536 		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 chrNW_004936687:20,126...1,421,075
Ensembl chrNW_004936687:549,947...1,421,133 		JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: SPART-related condition | ClinVar Annotator: match by term: Troyer syndrome OMIM
ClinVar		 PMID:12134148 PMID:18413476 PMID:20437587 PMID:20504295 PMID:23699601 More... NCBI chrNW_004936472:30,467,975...30,525,880
Ensembl chrNW_004936472:30,467,964...30,504,624 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      nervous system disease 12614
        central nervous system disease 11282
          paraplegia 686
            hereditary spastic paraplegia 457
              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
              Spastic paraplegia 94, autosomal recessive 1
              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 1
              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 8
              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 + 50
              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 29
              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 20
              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 48
              hereditary spastic paraplegia 64 0
              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 80
              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
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      nervous system disease 12614
        central nervous system disease 11282
          neurodegenerative disease 4652
            Nervous System Heredodegenerative Disorders 3185
              motor peripheral neuropathy 1261
                hereditary spastic paraplegia 457
                  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
                  Spastic paraplegia 94, autosomal recessive 1
                  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 1
                  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 8
                  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 + 50
                  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 29
                  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 20
                  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 48
                  hereditary spastic paraplegia 64 0
                  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 80
                  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
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