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hereditary spastic paraplegia 10 - Ontology Report - Rat Genome Database

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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 10
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Accession:DOID:0110763 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: SPG10;   autosomal dominant spastic paraplegia 10;   autosomal dominant spastic paraplegia type 10;   spastic paraplegia 10 with or without peripheral neuropathy
 broad_synonym: autosomal dominant spastic paraplegia
 primary_id: MESH:C537482
 alt_id: MIM:604187
 xref: GARD:9590;   ORDO:100991

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hereditary spastic paraplegia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624731:18,283,372...18,362,644
Ensembl chrNW_004624731:18,283,234...18,362,693 		JBrowse link
G G ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr24:27,631,488...27,709,669
Ensembl chr24:27,631,632...27,708,962 		JBrowse link
G P ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:180,299,434...180,407,003
Ensembl chr 1:180,299,256...180,405,837 		JBrowse link
G S 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 D ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 8:26,959,697...27,034,190
Ensembl chr 8:26,959,749...27,120,114 		JBrowse link
G B ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr14:31,122,551...31,222,537
Ensembl chr14:49,476,733...49,524,392 		JBrowse link
G C Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004955409:12,222,591...12,301,990
Ensembl chrNW_004955409:12,222,591...12,301,990 		JBrowse link
G R Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:94,113,149...94,210,955
Ensembl chr 6:88,377,239...88,475,204 		JBrowse link
G M Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr12:69,939,879...70,010,859
Ensembl chr12:69,939,388...70,013,191 		JBrowse link
G H ATL1 atlastin GTPase 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G N Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004624780:5,844,473...5,861,493
Ensembl chrNW_004624780:5,843,141...5,862,039 		JBrowse link
G G ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:35,771,541...35,789,848
Ensembl chr 8:35,771,580...35,789,345 		JBrowse link
G P ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr15:48,643,722...48,662,648
Ensembl chr15:48,643,724...48,662,536 		JBrowse link
G S 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 D ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr16:27,622,549...27,639,807
Ensembl chr16:27,625,417...27,639,202 		JBrowse link
G B ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:37,034,391...37,057,164
Ensembl chr 8:34,212,704...34,233,583 		JBrowse link
G C Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955463:13,445,468...13,460,370
Ensembl chrNW_004955463:13,444,722...13,463,132 		JBrowse link
G R Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr16:71,720,486...71,736,999
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
G M Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:27,513,399...27,529,465
Ensembl chr 8:27,513,289...27,530,356 		JBrowse link
G H ERLIN2 ER lipid raft associated 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G N Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004624889:2,736,727...2,746,333 JBrowse link
G G HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr10:83,003,266...83,017,397
Ensembl chr10:83,003,717...83,017,363 		JBrowse link
G P HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526 		JBrowse link
G S 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 D HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr37:7,010,421...7,025,912 JBrowse link
G B HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959 		JBrowse link
G C Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419 		JBrowse link
G R Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G M Hspd1 heat shock protein 1 (chaperonin) ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402 		JBrowse link
G H HSPD1 heat shock protein family D (Hsp60) member 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G N 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 ClinVar
OMIM		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... NCBI chrNW_004624802:10,375,132...10,409,575
Ensembl chrNW_004624802:10,375,774...10,409,566 		JBrowse link
G 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 ClinVar
OMIM		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... NCBI chr11:53,458,795...53,493,801 JBrowse link
G P 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 ClinVar
OMIM		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973 		JBrowse link
G S 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 ClinVar
OMIM		 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 D 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 ClinVar
OMIM		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767 		JBrowse link
G B 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 ClinVar
OMIM		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... NCBI chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327 		JBrowse link
G C 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 ClinVar
OMIM		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... NCBI chrNW_004955458:5,264,274...5,310,962
Ensembl chrNW_004955458:5,287,111...5,310,962 		JBrowse link
G R Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R280C (human)
DNA:missense mutation:cds:p.L259Q (human)
DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human)
DNA:missense mutation:cds:p.R162W (human)
DNA:missense mutation:cds:p.N256S (human)
DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... RGD:12793060, RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061 NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G M Kif5a kinesin family member 5A susceptibility IMP
ISO		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human)
DNA:missense mutation:cds:p.N256S (human)
DNA:missense mutation:cds:p.R162W (human)
DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human)
DNA:missense mutation:cds:p.L259Q (human)
DNA:missense mutation:cds:p.R280C (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... RGD:12793060, RGD:12793061, RGD:12793065, RGD:12793068, RGD:12793069, RGD:12859090, RGD:12859091 NCBI chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217 		JBrowse link
G H KIF5A kinesin family member 5A susceptibility ISO
IAGP
EXP		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 10
ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R280C (human)
DNA:missense mutation:cds:p.L259Q (human)
DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human)
DNA:missense mutation:cds:p.R162W (human)
DNA:missense mutation:cds:p.N256S (human)
DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... RGD:12793060, RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G H LOC129935358 ATAC-STARR-seq lymphoblastoid silent region 12213 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:197,499,720...197,500,049 JBrowse link
G H LOC130008141 ATAC-STARR-seq lymphoblastoid silent region 4584 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr12:57,549,771...57,550,110 JBrowse link
G H LOC130056709 ATAC-STARR-seq lymphoblastoid silent region 6259 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr15:22,786,512...22,786,871 JBrowse link
G N Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624896:2,638,161...2,684,524
Ensembl chrNW_004624896:2,637,891...2,683,078 		JBrowse link
G G NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr26:53,718,832...53,746,456 JBrowse link
G P NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr15:32,208,857...32,260,064
Ensembl chr15:32,208,860...32,260,006 		JBrowse link
G S 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 D NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:32,003,454...32,056,802
Ensembl chr 3:32,003,033...32,051,684 		JBrowse link
G B NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 Ensembl chr15:20,617,547...20,655,686 JBrowse link
G C Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004955533:1,244,232...1,304,497
Ensembl chrNW_004955533:1,249,500...1,284,588 		JBrowse link
G R Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:115,608,221...116,010,503
Ensembl chr 1:106,834,000...106,874,790 		JBrowse link
G M Nipa1 non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 7:55,628,232...55,669,348
Ensembl chr 7:55,627,315...55,669,702 		JBrowse link
G H NIPA1 NIPA magnesium transporter 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789 		JBrowse link
G N Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004624749:16,933,575...17,042,017
Ensembl chrNW_004624749:16,933,576...17,043,753 		JBrowse link
G G REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr14:20,819,318...20,924,484
Ensembl chr14:20,820,275...20,940,683 		JBrowse link
G P REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,436,324...58,558,934 		JBrowse link
G S 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 D REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr17:38,807,217...38,908,434
Ensembl chr17:38,807,014...38,906,196 		JBrowse link
G B REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr2A:86,268,147...86,391,520
Ensembl chr2A:87,814,047...87,936,984 		JBrowse link
G C Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004955424:1,369,490...1,425,611
Ensembl chrNW_004955424:1,369,490...1,425,605 		JBrowse link
G R Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 4:105,303,974...105,420,611
Ensembl chr 4:103,745,633...103,862,338 		JBrowse link
G M Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 6:71,684,413...71,787,694
Ensembl chr 6:71,684,545...71,787,694 		JBrowse link
G H REEP1 receptor accessory protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G N Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624907:2,345,223...2,350,844
Ensembl chrNW_004624907:2,344,134...2,352,199 		JBrowse link
G G RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:38,931,473...38,943,057
Ensembl chr 6:38,931,348...38,942,886 		JBrowse link
G P RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:51,855,844...51,864,753
Ensembl chr 6:51,854,998...51,875,169 		JBrowse link
G S 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 D RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:109,976,820...110,080,252
Ensembl chr 1:109,976,930...110,048,532
Ensembl chr 1:109,976,930...110,048,532 		JBrowse link
G B RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:42,434,085...42,446,862
Ensembl chr19:51,030,708...51,043,404 		JBrowse link
G C Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955574:1,543...11,476
Ensembl chrNW_004955574:1,071...21,117 		JBrowse link
G R Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:88,063,124...88,076,082
Ensembl chr 1:78,935,104...78,948,069 		JBrowse link
G M Rtn2 reticulon 2 (Z-band associated protein) ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:19,016,549...19,030,089
Ensembl chr 7:19,016,549...19,030,085 		JBrowse link
G H RTN2 reticulon 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055 		JBrowse link
G N Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004624730:33,424,654...33,443,249
Ensembl chrNW_004624730:33,420,389...33,443,144 		JBrowse link
G G SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr15:34,907,146...34,932,928
Ensembl chr15:34,907,091...34,931,262 		JBrowse link
G P SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr13:95,690,453...95,724,239
Ensembl chr13:95,658,530...95,724,156 		JBrowse link
G S 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 D SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr23:49,522,325...49,548,004
Ensembl chr23:49,523,852...49,547,904 		JBrowse link
G B SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 3:152,882,563...152,910,434
Ensembl chr 3:160,933,258...160,961,723 		JBrowse link
G C Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004955448:6,885,153...6,905,641
Ensembl chrNW_004955448:6,885,153...6,905,631 		JBrowse link
G R Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:150,565,327...150,587,700
Ensembl chr 2:148,415,666...148,437,758 		JBrowse link
G M Slc33a1 solute carrier family 33 (acetyl-CoA transporter), member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 3:63,849,744...63,872,154
Ensembl chr 3:63,840,928...63,872,189 		JBrowse link
G H SLC33A1 solute carrier family 33 member 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456 		JBrowse link
G N Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624738:13,721,136...13,780,530 JBrowse link
G G SPAST spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:75,343,437...75,429,196
Ensembl chr14:75,343,327...75,429,139 		JBrowse link
G P SPAST spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926 		JBrowse link
G S 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 D SPAST spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:25,393,169...25,447,686
Ensembl chr17:25,393,422...25,446,539 		JBrowse link
G B SPAST spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr2A:32,085,245...32,175,137
Ensembl chr2A:32,150,792...32,885,029 		JBrowse link
G C Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955441:471,609...521,920
Ensembl chrNW_004955441:485,815...520,452 		JBrowse link
G R Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G M Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:74,643,805...74,698,110
Ensembl chr17:74,645,982...74,698,110 		JBrowse link
G H SPAST spastin IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637 		JBrowse link
G N Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004624735:30,166,617...30,223,404
Ensembl chrNW_004624735:30,166,623...30,223,404 		JBrowse link
G G WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 8:119,612,921...119,679,058
Ensembl chr 8:119,611,210...119,668,885 		JBrowse link
G P WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 4:14,598,133...14,667,535
Ensembl chr 4:14,598,150...14,668,313 		JBrowse link
G S 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 D WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr13:23,019,422...23,078,073
Ensembl chr13:23,019,636...23,078,280 		JBrowse link
G B WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 8:121,710,118...121,777,977
Ensembl chr 8:124,461,424...124,529,262 		JBrowse link
G C Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004955461:145,993...199,274
Ensembl chrNW_004955461:145,993...199,903 		JBrowse link
G R Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 7:92,773,625...92,825,532
Ensembl chr 7:90,884,197...90,936,103 		JBrowse link
G M Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr15:59,203,712...59,246,043
Ensembl chr15:59,203,846...59,246,016 		JBrowse link
G H WASHC5 WASH complex subunit 5 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G N Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004624737:9,367,817...9,415,089
Ensembl chrNW_004624737:9,367,756...9,390,243 		JBrowse link
G G ZFYVE27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 9:90,900,747...90,925,944
Ensembl chr 9:90,901,292...90,925,944 		JBrowse link
G P ZFYVE27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr14:109,088,758...109,119,854
Ensembl chr14:109,088,810...109,113,011 		JBrowse link
G S 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
G D ZFYVE27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr28:10,966,158...10,987,822
Ensembl chr28:10,966,142...11,036,946 		JBrowse link
G B ZFYVE27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr10:94,353,624...94,377,430
Ensembl chr10:97,848,176...97,871,958 		JBrowse link
G C Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chrNW_004955507:3,808,885...3,833,708
Ensembl chrNW_004955507:3,808,389...3,833,708 		JBrowse link
G R Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 1:250,929,110...250,952,481
Ensembl chr 1:240,979,842...241,003,193 		JBrowse link
G M Zfyve27 zinc finger, FYVE domain containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr19:42,159,006...42,183,032
Ensembl chr19:42,152,390...42,183,029 		JBrowse link
G H ZFYVE27 zinc finger FYVE-type containing 27 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr10:97,737,128...97,760,895
Ensembl chr10:97,737,121...97,760,907 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          paraplegia 7142
            hereditary spastic paraplegia 4775
              hereditary spastic paraplegia 10 113
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          neurodegenerative disease 56131
            Nervous System Heredodegenerative Disorders 34568
              motor peripheral neuropathy 13240
                hereditary spastic paraplegia 4775
                  hereditary spastic paraplegia 10 113
paths to the root