Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:2476 term browser browse the term
Definition:A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
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 Spastic Paraplegias;   Hereditary X Linked Recessive Spastic Paraplegia;   Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia;   Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant;   Strumpell-Lorrain disease;   familial spastic paraplegia;   hereditary spastic paraparesis;   type V hereditary motor and sensory neuropathy
 narrow_synonym: Autosomal Dominant Hereditary Spastic Paraplegia;   Autosomal Recessive Hereditary Spastic Paraplegia;   Dominant Spastic Paraplegia;   PURE OR COMPLEX AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA;   Recessive Spastic Paraplegia;   X-linked hereditary spastic paraplegia
 primary_id: MESH:D015419
 alt_id: RDO:0000354
 xref: GARD:6637;   ICD9CM:334.1;   NCI:C140267;   OMIM:PS303350
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hereditary spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds: RGD PMID:26026163 RGD:13434921 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868, PMID:28492532, PMID:28832565 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 2:210,861,624...210,874,348
Ensembl chr 2:210,861,625...210,874,304
JBrowse link
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 2:206,293,679...206,305,705
Ensembl chr 2:206,293,720...206,305,702
JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr12:19,314,222...19,320,339
Ensembl chr12:19,314,251...19,320,142
JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:220,948,318...220,952,349
Ensembl chr 1:220,948,331...220,952,391
JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO DNA:mutations: :
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar PMID:26467025, PMID:28492532, PMID:28832565, PMID:20613862 RGD:9684952 NCBI chr12:14,161,998...14,175,997 JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 7:70,612,650...70,620,900
Ensembl chr 7:70,612,103...70,620,890
JBrowse link
G Arsi arylsulfatase family, member I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr18:56,180,089...56,186,068
Ensembl chr18:56,180,089...56,186,068
JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:24473461 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
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, PMID:28832565 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 ISS MouseDO NCBI chr 1:266,451,021...266,464,903
Ensembl chr 1:266,451,021...266,464,903
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO SPG17, OMIM:270685, DNA:point mutation:exon:N88S
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar PMID:28492532, PMID:28832565, PMID:13680364 RGD:1600602 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 2:84,667,578...84,678,730
Ensembl chr 2:84,667,633...84,678,790
JBrowse link
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:111,063,988...111,116,014
Ensembl chr 8:111,064,049...111,116,014
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
CTD
ClinVar
PMID:18252231, PMID:18855023, PMID:19439420, PMID:19812052, PMID:21541746, PMID:21623769, PMID:22384504, PMID:23812641, PMID:24117163, PMID:24927729, PMID:25326635, PMID:25525159, PMID:25741868, PMID:26467025, PMID:27077743, PMID:27217339, PMID:27879216, PMID:27957547, PMID:28492532, PMID:28832565 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25558065 NCBI chr16:71,090,096...71,120,713
Ensembl chr16:71,090,045...71,118,552
JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar NCBI chr 3:113,976,687...113,998,925
Ensembl chr 3:113,976,687...113,998,922
JBrowse link
G Ephb1 Eph receptor B1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:110,376,954...110,813,193
Ensembl chr 8:110,376,954...110,813,000
JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532, PMID:28832565 NCBI chr16:69,179,005...69,195,452
Ensembl chr16:69,179,588...69,195,097
JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:24033266, PMID:24833714, PMID:27217339, PMID:28017243, PMID:31135052 NCBI chr19:43,545,380...43,596,788
Ensembl chr19:43,545,378...43,596,801
JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:222,340,481...222,417,915
Ensembl chr 1:222,344,713...222,350,173
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532, PMID:28832565 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Dominant
ClinVar PMID:20593214, PMID:23332916, PMID:23332917, PMID:25741868, PMID:26220345, PMID:28832565 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
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
RGD
ClinVar
PMID:11898127, PMID:28832565, PMID:11898127 RGD:1624200, RGD:1624200 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532, PMID:28832565 NCBI chr10:57,309,722...57,322,140
Ensembl chr10:57,309,972...57,317,985
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
DNA:missense mutations: :p.V8M, p.I27T (human)
ClinVar PMID:25585697, PMID:25741868, PMID:26410750, PMID:28492532, PMID:28832565, PMID:29159194, PMID:31488895, PMID:32096284, PMID:28362824 RGD:12911231 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:24088041, PMID:26633545, PMID:28492532, PMID:28832565 NCBI chr10:57,322,259...57,352,395
Ensembl chr10:57,322,331...57,351,353
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15452312, PMID:18500496, PMID:18853458, PMID:21623771, PMID:25008398, PMID:26467025, PMID:26543653, PMID:28492532, PMID:28832565, PMID:29892902 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:110,982,777...111,022,666
Ensembl chr 8:110,982,777...111,022,385
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 6:92,016,560...92,057,643
Ensembl chr 6:92,016,622...92,057,816
JBrowse link
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21981780, PMID:24361204, PMID:25558065, PMID:28492532, PMID:28832565, PMID:31087512 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:222,310,916...222,451,485
Ensembl chr 1:222,310,920...222,451,484
JBrowse link
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532, PMID:28832565 NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:26467025, PMID:28492532 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
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:17166836, PMID:17928003, PMID:19091982, PMID:19620182, PMID:20816793, PMID:21419568, PMID:21599812, PMID:22302102, PMID:23850684, PMID:24075313, PMID:24128679, PMID:26467025, PMID:28492532, PMID:28832565, PMID:30311386, PMID:32581362 NCBI chr 1:114,385,484...114,422,741
Ensembl chr 1:114,386,757...114,422,733
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
CTD
ClinVar
PMID:20382209, PMID:26467025, PMID:28492532 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:19779133, PMID:20852969, PMID:22287014, PMID:23280630, PMID:23497566, PMID:25401298, PMID:25741868, PMID:26467025, PMID:27433545, PMID:28492532, PMID:28832565 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18058631, PMID:23129421, PMID:23881933, PMID:25741868, PMID:26467025, PMID:27790088, PMID:28492532, PMID:28642336, PMID:28832565 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr  X:74,578,600...74,706,068
Ensembl chr  X:74,577,131...74,706,214
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar PMID:17322883, PMID:17717710, PMID:18067136, PMID:18079167, PMID:18332254, PMID:18835492, PMID:19105190, PMID:19438933, PMID:20110243, PMID:22175763, PMID:22237444, PMID:22696581, PMID:24033266, PMID:24833714, PMID:25174650, PMID:25741868, PMID:26467025, PMID:27071356, PMID:27217339, PMID:28492532, PMID:28832565 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin susceptibility ISO RGD PMID:14564668 RGD:1556574 NCBI chr 8:70,994,531...71,022,302
Ensembl chr 8:70,994,563...71,022,331
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23176824 NCBI chr 6:135,304,536...135,405,865
Ensembl chr 6:135,313,008...135,402,814
JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr 3:119,173,818...119,222,499
Ensembl chr 3:119,173,818...119,222,484
JBrowse link
G Wdr48 WD repeat domain 48 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 8:128,577,080...128,610,287
Ensembl chr 8:128,577,080...128,610,287
JBrowse link
G Zfr zinc finger RNA binding protein ISO ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:62,150,251...62,213,048
Ensembl chr 2:62,150,251...62,213,048
JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar PMID:19917823, PMID:26467025, PMID:28492532, PMID:28832565 NCBI chr 6:102,409,235...102,472,962
Ensembl chr 6:102,409,881...102,472,926
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:258501
OMIM
ClinVar
PMID:11668429, PMID:12126933, PMID:15342707, PMID:15902555, PMID:18985435, PMID:20350831, PMID:23700088, PMID:24136862, PMID:24749080, PMID:25159689, PMID:25201222, PMID:25205859, PMID:25741868, PMID:26190011, PMID:27528516, PMID:27629047, PMID:28081242, PMID:28492532, PMID:30311386 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
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
ClinVar Annotator: match by OMIM:607225
OMIM
ClinVar
PMID:11586297, PMID:11586298, PMID:12145748, PMID:12509863, PMID:12919135, PMID:16718699, PMID:18523452, PMID:18852346, PMID:23881933, PMID:24315819, PMID:24562058, PMID:25174650, PMID:25363768, PMID:25558820, PMID:25588603, PMID:25741868, PMID:26257771, PMID:26467025, PMID:27601211, PMID:27790088, PMID:28407358, PMID:28430856, PMID:28492532, PMID:28709720, PMID:28832565, PMID:30311386, PMID:32214227 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
hereditary spastic paraplegia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Kif5a kinesin family member 5A 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
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)
ClinVar Annotator: match by OMIM:604187
OMIM
ClinVar
PMID:12355402, PMID:15452312, PMID:16476820, PMID:16489470, PMID:18203753, PMID:18500496, PMID:18853458, PMID:21107874, PMID:21623771, PMID:22552817, PMID:24731568, PMID:25008398, PMID:25741868, PMID:26467025, PMID:26543653, PMID:28492532, PMID:28832565, PMID:29892902, PMID:29908077, PMID:30311386, PMID:15452312, PMID:24939576, PMID:26374131, PMID:25352184, PMID:12355402, PMID:18245137, PMID:22466687 RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061, RGD:12793060 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:114,385,484...114,422,741
Ensembl chr 1:114,386,757...114,422,733
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:80,195,594...80,208,449
Ensembl chr 1:80,195,532...80,208,448
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 1:261,415,172...261,438,539
Ensembl chr 1:261,415,191...261,438,539
JBrowse link
hereditary spastic paraplegia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar NCBI chr 3:113,976,687...113,998,925
Ensembl chr 3:113,976,687...113,998,922
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868, PMID:30311386 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:19626676, PMID:22577227, PMID:30311386 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr 3:114,065,814...114,075,404
Ensembl chr 3:114,066,840...114,074,803
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:12369018, PMID:16575835, PMID:17559086, PMID:18640039, PMID:18752264, PMID:19299310, PMID:22323514, PMID:23757202, PMID:24304607, PMID:24491487, PMID:25741868, PMID:28492532, PMID:30311386, PMID:32860008 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:10699187, PMID:26671083, PMID:28492532, PMID:30311386 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive
ClinVar Annotator: match by term: Gait disturbance
ClinVar Annotator: match by OMIM:604360
OMIM
ClinVar
PMID:2795747, PMID:16773502, PMID:17322883, PMID:17717710, PMID:18067136, PMID:18079167, PMID:18332254, PMID:18337587, PMID:18361476, PMID:18414213, PMID:18439221, PMID:18586399, PMID:18663179, PMID:18717728, PMID:18835492, PMID:19087158, PMID:19105190, PMID:19194956, PMID:19196735, PMID:19438933, PMID:19513778, PMID:19763152, PMID:20110243, PMID:20301389, PMID:20307669, PMID:20390432, PMID:20571989, PMID:21625935, PMID:22154821, PMID:22175763, PMID:22237444, PMID:22246010, PMID:22406018, PMID:22696581, PMID:23043354, PMID:23121729, PMID:23443022, PMID:23699708, PMID:23733235, PMID:23881933, PMID:24033266, PMID:24090761, PMID:24482476, PMID:24833714, PMID:25059394, PMID:25174650, PMID:25299611, PMID:25326635, PMID:25525159, PMID:25588603, PMID:25741868, PMID:26064709, PMID:26183056, PMID:26374131, PMID:26467025, PMID:26539891, PMID:26556829, PMID:26601740, PMID:26671123, PMID:26742954, PMID:27066562, PMID:27071356, PMID:27077743, PMID:27084228, PMID:27217339, PMID:27256065, PMID:27544499, PMID:27790088, PMID:27884173, PMID:27900367, PMID:27904835, PMID:27957547, PMID:28130640, PMID:28160950, PMID:28492532, PMID:28554332, PMID:28832565, PMID:29246610, PMID:29342275, PMID:29389947, PMID:29525178, PMID:29691679, PMID:29732542, PMID:30311386, PMID:30363882, PMID:30373780, PMID:32214227, PMID:32860008 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr 3:47,677,720...47,685,902
Ensembl chr 3:47,677,720...47,685,902
JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr 3:114,103,011...114,123,293
Ensembl chr 3:114,102,875...114,126,523
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
G Wars1 tryptophanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:28369220, PMID:30311386 NCBI chr 6:132,771,026...132,802,262
Ensembl chr 6:132,771,021...132,802,210
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
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: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT
ClinVar Annotator: match by OMIM:604805
OMIM
ClinVar
PMID:10677333, PMID:12427890, PMID:22232211, PMID:25741868, PMID:27165006, PMID:28492532 NCBI chr 1:80,195,594...80,208,449
Ensembl chr 1:80,195,532...80,208,448
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
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:605280
OMIM
ClinVar
CTD
PMID:10677329, PMID:17420924, PMID:18414213, PMID:18571143, PMID:24033266, PMID:25326637, PMID:28492532, PMID:23466696 RGD:10402832 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
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: Spastic paraplegia 15
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:270700
OMIM
ClinVar
PMID:6944241, PMID:11342696, PMID:17661097, PMID:18098276, PMID:18394578, PMID:19805727, PMID:19917823, PMID:23733235, PMID:24088041, PMID:24267886, PMID:24833714, PMID:25133958, PMID:25497598, PMID:25525159, PMID:25741868, PMID:26467025, PMID:26633545, PMID:27217339, PMID:27544497, PMID:28492532 NCBI chr 6:102,409,235...102,472,962
Ensembl chr 6:102,409,881...102,472,926
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: Spastic paraplegia 17 OMIM
ClinVar
PMID:1674639, PMID:5964029, PMID:14981520, PMID:15732094, PMID:16427281, PMID:16574104, PMID:17387721, PMID:17486577, PMID:18585921, PMID:18790819, PMID:19396477, PMID:20598714, PMID:21750110, PMID:21957196, PMID:22045697, PMID:22474068, PMID:23553728, PMID:24345054, PMID:24604904, PMID:25219579, PMID:25454168, PMID:25487175, PMID:25741868, PMID:26467025, PMID:26815532, PMID:28492532 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
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 OMIM:611225 OMIM
ClinVar
PMID:21330303, PMID:23109145 NCBI chr16:69,179,005...69,195,452
Ensembl chr16:69,179,588...69,195,097
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, PMID:28492532 NCBI chr  X:107,394,468...107,405,564
Ensembl chr  X:107,394,486...107,405,564
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:1720927, PMID:7522741, PMID:7531827, PMID:8012387, PMID:8320699, PMID:8659540, PMID:8723686, PMID:8956049, PMID:9056547, PMID:9247276, PMID:9427151, PMID:9489796, PMID:9633722, PMID:9634530, PMID:10319885, PMID:10417279, PMID:12601703, PMID:14452137, PMID:14745569, PMID:15712223, PMID:16287154, PMID:16380909, PMID:17438221, PMID:18160035, PMID:18414213, PMID:18470932, PMID:19328639, PMID:19825935, PMID:21679407, PMID:23344956, PMID:23347225, PMID:24139698, PMID:24890387, PMID:25741868, PMID:26125040, PMID:26467025, PMID:27535533, PMID:28366443, PMID:28492532 NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Spastic paraplegia 2
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED
ClinVar PMID:7522741, PMID:7531827, PMID:8012387, PMID:8320699, PMID:8723686, PMID:8956049, PMID:9056547, PMID:9247276, PMID:9427151, PMID:9489796, PMID:9634530, PMID:10417279, PMID:12601703, PMID:14452137, PMID:14745569, PMID:15712223, PMID:16287154, PMID:16380909, PMID:17438221, PMID:18160035, PMID:18414213, PMID:18470932, PMID:19328639, PMID:19825935, PMID:21679407, PMID:23344956, PMID:24139698, PMID:24890387, PMID:25741868, PMID:26125040, PMID:26467025, PMID:27535533, PMID:28366443, PMID:28492532 NCBI chr  X:107,531,404...107,542,510
Ensembl chr  X:107,531,404...107,542,510
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, PMID:28492532 NCBI chr  X:107,370,351...107,372,347
Ensembl chr  X:107,370,431...107,372,338
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, PMID:28492532 NCBI chr  X:107,322,077...107,324,054
Ensembl chr 2:102,370,158...102,370,757
Ensembl chr  X:102,370,158...102,370,757
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 OMIM NCBI chr13:49,195,325...49,243,327
Ensembl chr13:49,195,325...49,243,316
JBrowse link
hereditary spastic paraplegia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 26
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
OMIM
ClinVar
PMID:23746551, PMID:24103911, PMID:24283893, PMID:25741868, PMID:32214227 NCBI chr 7:70,439,273...70,459,556
Ensembl chr 7:70,452,579...70,459,880
JBrowse link
hereditary spastic paraplegia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 28, autosomal recessive
ClinVar Annotator: match by OMIM:609340
OMIM
ClinVar
PMID:15786464, PMID:23176821, PMID:28492532 NCBI chr15:19,963,639...20,032,263
Ensembl chr15:19,965,187...20,032,191
JBrowse link
hereditary spastic paraplegia 30 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
DNA:missense mutation: :p.A255V (human)
DNA:missense mutations: :p.A255V, p.R350G (human)
ClinVar Annotator: match by OMIM:610357
OMIM
ClinVar
PMID:16434418, PMID:18414213, PMID:21376300, PMID:21487076, PMID:21820098, PMID:22258533, PMID:24088041, PMID:25133958, PMID:25253658, PMID:25265257, PMID:25326635, PMID:25585697, PMID:25741868, PMID:26077850, PMID:26125038, PMID:26354034, PMID:26410750, PMID:26467025, PMID:26486474, PMID:26633545, PMID:27034427, PMID:27124789, PMID:27681307, PMID:28332297, PMID:28362824, PMID:28492532, PMID:28554332, PMID:28708278, PMID:28708303, PMID:28832565, PMID:28834584, PMID:28835676, PMID:28970574, PMID:29159194, PMID:29590070, PMID:30311386, PMID:30385166, PMID:30564185, PMID:31488895, PMID:31616253, PMID:31805580, PMID:32096284, PMID:32860008, PMID:21487076, PMID:22258533 RGD:12911228, RGD:12911224 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
hereditary spastic paraplegia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant
ClinVar Annotator: match by OMIM:610250
OMIM
ClinVar
PMID:16826527, PMID:18321925, PMID:18644145, PMID:19034539, PMID:20718791, PMID:22703882, PMID:23108492, PMID:23400676, PMID:23812641, PMID:24451228, PMID:24478229, PMID:25025039, PMID:25525159, PMID:25741868, PMID:26201691, PMID:26467025, PMID:26671083, PMID:28362824, PMID:28492532, PMID:29629531, PMID:30373780, PMID:32581362 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
hereditary spastic paraplegia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:10711710, PMID:11328725, PMID:11702214, PMID:21911583, PMID:22264887, PMID:22995991, PMID:26103963, PMID:27014590, PMID:28118664, PMID:28492532, PMID:30311386 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:30311386 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:21907147, PMID:22499348, PMID:23499752, PMID:24088041, PMID:24123792, PMID:24461907, PMID:25058219, PMID:25288793, PMID:25741868, PMID:25911677, PMID:26060307, PMID:26633545, PMID:27290639, PMID:28058511, PMID:28492532, PMID:30311386 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
JBrowse link
G Phf8 PHD finger protein 8 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:30311386 NCBI chr  X:21,063,487...21,168,750
Ensembl chr  X:21,063,562...21,168,750
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:28492532, PMID:30311386 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:10581036, PMID:10947946, PMID:11992753, PMID:12359136, PMID:12794687, PMID:12794688, PMID:15510212, PMID:15516337, PMID:18695252, PMID:20301643, PMID:21781115, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:30311386 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic tetraparesis
ClinVar Annotator: match by term: Spastic paraplegia 33, autosomal dominant
OMIM
ClinVar
PMID:16826525, PMID:18606302, PMID:24668814, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30564185 NCBI chr 1:261,415,172...261,438,539
Ensembl chr 1:261,415,191...261,438,539
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: Spastic paraplegia 35 OMIM
ClinVar
PMID:18414213, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942, PMID:23745665, PMID:23812641, PMID:24299421, PMID:25326637, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr19:43,545,380...43,596,788
Ensembl chr19:43,545,378...43,596,801
JBrowse link
hereditary spastic paraplegia 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39
ClinVar PMID:26467025, PMID:28492532 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39
ClinVar Annotator: match by term: NTE related motor neuron disorder
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:612020
OMIM
ClinVar
PMID:3963113, PMID:8053762, PMID:18313024, PMID:20603202, PMID:24355708, PMID:25133958, PMID:25480986, PMID:25574898, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28559085, PMID:29221171, PMID:30097146, PMID:31048186, PMID:31135245 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
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
ClinVar Annotator: match by term: Spastic paraplegia 3
ClinVar Annotator: match by OMIM:182600
OMIM
ClinVar
PMID:4684346, PMID:8252041, PMID:11685207, PMID:12112092, PMID:12499504, PMID:12939451, PMID:14607301, PMID:14695538, PMID:15184642, PMID:15477516, PMID:15517445, PMID:15596607, PMID:15742100, PMID:16401858, PMID:16533974, PMID:16537571, PMID:16612642, PMID:17285536, PMID:17321752, PMID:17427918, PMID:17502470, PMID:17992088, PMID:19423133, PMID:19459885, PMID:19652243, PMID:19768483, PMID:20718791, PMID:20816793, PMID:20862796, PMID:20932283, PMID:20947813, PMID:21194679, PMID:21220294, PMID:21321493, PMID:21336785, PMID:21368113, PMID:22552817, PMID:22581552, PMID:23079343, PMID:23108492, PMID:23233086, PMID:23483706, PMID:23999326, PMID:24417445, PMID:24451228, PMID:24482476, PMID:24604904, PMID:25326635, PMID:25454648, PMID:25637064, PMID:25741868, PMID:25741869, PMID:25761634, PMID:26208798, PMID:26467025, PMID:26671083, PMID:28492532, PMID:28736820, PMID:29691679, PMID:29907907, PMID:29980238, PMID:32488064, PMID:32581362, PMID:32860008 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
JBrowse link
G Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:28492532 NCBI chr 6:92,136,242...92,229,578
Ensembl chr 6:92,136,992...92,229,260
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: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:21,900,763...22,092,484
Ensembl chr 6:21,950,100...22,092,346
JBrowse link
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:22,296,128...22,316,894
Ensembl chr 6:22,296,128...22,316,894
JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:21,203,502...21,600,441
Ensembl chr 6:21,203,502...21,600,451
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:22,167,874...22,194,755
Ensembl chr 6:22,167,919...22,194,250
JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:22,197,003...22,226,364
Ensembl chr 6:22,197,040...22,226,421
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant
ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of
ClinVar Annotator: match by OMIM:182601
OMIM
ClinVar
PMID:9695811, PMID:10493830, PMID:10610178, PMID:10699187, PMID:10980739, PMID:11015453, PMID:11039577, PMID:11087788, PMID:11134375, PMID:11309678, PMID:11704932, PMID:11809724, PMID:11843700, PMID:11985387, PMID:12124993, PMID:12161613, PMID:12202986, PMID:12471215, PMID:12552568, PMID:12736085, PMID:12939659, PMID:14681884, PMID:14732620, PMID:15210521, PMID:15248095, PMID:15326248, PMID:15482961, PMID:15637712, PMID:15667412, PMID:15716377, PMID:15841487, PMID:16009377, PMID:16009769, PMID:16055926, PMID:16240363, PMID:16476945, PMID:16682546, PMID:16788734, PMID:16832076, PMID:17035675, PMID:17098887, PMID:17100993, PMID:17101632, PMID:17345589, PMID:17560499, PMID:17594340, PMID:17597328, PMID:17598600, PMID:17895902, PMID:17916079, PMID:17957230, PMID:17971434, PMID:18190593, PMID:18410514, PMID:18608088, PMID:18613979, PMID:18664244, PMID:18701882, PMID:18975132, PMID:19423133, PMID:19438933, PMID:19453301, PMID:19875132, PMID:20214791, PMID:20301339, PMID:20430936, PMID:20491894, PMID:20550563, PMID:20559269, PMID:20562464, PMID:20665701, PMID:20718791, PMID:20932283, PMID:21546041, PMID:21659953, PMID:22203332, PMID:22552817, PMID:22554690, PMID:22817815, PMID:22960362, PMID:23122959, PMID:23252998, PMID:23279441, PMID:23400676, PMID:23438842, PMID:23833562, PMID:24033003, PMID:24033266, PMID:24215330, PMID:24267886, PMID:24381312, PMID:24451228, PMID:24478365, PMID:24690193, PMID:24731568, PMID:24824479, PMID:25045380, PMID:25065914, PMID:25315759, PMID:25326635, PMID:25326637, PMID:25341883, PMID:25421405, PMID:25454648, PMID:25525159, PMID:25658484, PMID:25741868, PMID:25741869, PMID:26086985, PMID:26094131, PMID:26165777, PMID:26208798, PMID:26374131, PMID:26467025, PMID:26600529, PMID:26671083, PMID:27084228, PMID:27108959, PMID:27260292, PMID:27276562, PMID:27334366, PMID:27688599, PMID:27871443, PMID:27942873, PMID:27957547, PMID:28160950, PMID:28492532, PMID:28495799, PMID:28572275, PMID:29246610, PMID:29389947, PMID:29691679, PMID:29908077, PMID:29934652, PMID:29980238, PMID:30311386, PMID:30520996, PMID:30564185, PMID:31134136 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Ttc27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:21,735,833...21,880,008
Ensembl chr 6:21,735,834...21,880,003
JBrowse link
G Yipf4 Yip1 domain family, member 4 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:22,126,870...22,138,286
Ensembl chr 6:22,126,870...22,138,286
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: Spastic paraplegia 42, autosomal dominant
ClinVar Annotator: match by OMIM:612539
OMIM
ClinVar
PMID:19061983, PMID:25402622, PMID:28492532 NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
JBrowse link
hereditary spastic paraplegia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar
PMID:20039086, PMID:21981780, PMID:22584950, PMID:23166001, PMID:23269600, PMID:23436634, PMID:23494994, PMID:23857908, PMID:24033266, PMID:24361204, PMID:25558065, PMID:25592411, PMID:25741868, PMID:25962551, PMID:27112773, PMID:28492532, PMID:28641177, PMID:28832565, PMID:30088953, PMID:30392167, PMID:31087512 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
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 DNA:missense mutation:cds:p.I33M (human)
ClinVar Annotator: match by OMIM:613206
OMIM
ClinVar
PMID:19056803, PMID:19056803 RGD:13208577 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
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: Spastic paraplegia 45, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Spastic paraplegia 45, autosomal recessive
ClinVar Annotator: match by OMIM:613162
OMIM
ClinVar
PMID:19415352, PMID:24482476, PMID:25741868, PMID:28492532, PMID:29123918, PMID:32214227 NCBI chr 1:266,652,966...266,782,935
Ensembl chr 1:266,659,519...266,782,910
JBrowse link
hereditary spastic paraplegia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 46, autosomal recessive
ClinVar Annotator: match by OMIM:614409
OMIM
ClinVar
PMID:20593214, PMID:23332916, PMID:23332917, PMID:24252062, PMID:25741868, PMID:26220345, PMID:28492532, PMID:28832565, PMID:30308956 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
JBrowse link
hereditary spastic paraplegia 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive
ClinVar Annotator: match by OMIM:614066
OMIM
ClinVar
PMID:18414213, PMID:19559397, PMID:20972249, PMID:21440262, PMID:21620353, PMID:22290197, PMID:23167973, PMID:23472171, PMID:24395635, PMID:24700674, PMID:24781758, PMID:25167861, PMID:25552650, PMID:25693842, PMID:25741868, PMID:26544806, PMID:28492532, PMID:29193663, PMID:30311386 NCBI chr 2:206,293,679...206,305,705
Ensembl chr 2:206,293,720...206,305,702
JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive ClinVar PMID:28492532 NCBI chr 2:206,285,085...206,293,599
Ensembl chr 2:206,285,089...206,293,599
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: Spastic paraplegia 48, autosomal recessive
ClinVar Annotator: match by OMIM:613647
OMIM
ClinVar
PMID:20613862, PMID:24033266, PMID:24482476, PMID:24833714, PMID:24926664, PMID:25333062, PMID:25741868, PMID:26085577, PMID:26467025, PMID:27606357, PMID:28492532, PMID:28832565, PMID:32860008 NCBI chr12:14,161,998...14,175,997 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: Spastic paraplegia 49, autosomal recessive ClinVar PMID:28492532 NCBI chr 6:135,409,698...135,412,552
Ensembl chr 6:135,410,030...135,412,312
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive OMIM
ClinVar
PMID:23176824, PMID:25590979, PMID:25741868, PMID:26431026, PMID:26542466, PMID:27406698, PMID:28492532, PMID:28940097 NCBI chr 6:135,304,536...135,405,865
Ensembl chr 6:135,313,008...135,402,814
JBrowse link
hereditary spastic paraplegia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add3 adducin 3 ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 ClinVar
OMIM
PMID:23836506 NCBI chr 1:273,854,195...273,961,982
Ensembl chr 1:273,854,248...273,961,982
JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 50, autosomal recessive
ClinVar Annotator: match by OMIM:612936
OMIM
ClinVar
PMID:18414213, PMID:19559397, PMID:21937992, PMID:24700674, PMID:25326635, PMID:25558065, PMID:25741868, PMID:26077850, PMID:28492532, PMID:29096665 NCBI chr12:19,314,222...19,320,339
Ensembl chr12:19,314,251...19,320,142
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: Cerebral palsy, spastic quadriplegic, 4
ClinVar Annotator: match by OMIM:613744
OMIM
ClinVar
PMID:20972249, PMID:21620353, PMID:21937992, PMID:25741868 NCBI chr 3:119,484,714...119,548,491
Ensembl chr 3:119,484,677...119,548,621
JBrowse link
G Sppl2a signal peptide peptidase-like 2A ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 4 ClinVar PMID:20972249 NCBI chr 3:119,361,651...119,405,453
Ensembl chr 3:119,361,655...119,405,453
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
ClinVar Annotator: match by OMIM:614067
OMIM
ClinVar
PMID:18414213, PMID:21620353, PMID:25552650, PMID:25741868, PMID:28492532, PMID:28708303, PMID:30311386, PMID:31660686 NCBI chr 6:72,461,977...72,502,717
Ensembl chr 6:72,461,977...72,503,847
JBrowse link
hereditary spastic paraplegia 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Spastic paraplegia 53, autosomal recessive
ClinVar Annotator: match by OMIM:614898
OMIM
ClinVar
PMID:22717650, PMID:28492532, PMID:29473047 NCBI chr16:54,860,811...54,899,410
Ensembl chr16:54,860,868...54,899,347
JBrowse link
hereditary spastic paraplegia 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 54, autosomal recessive
ClinVar Annotator: match by OMIM:615033
OMIM
ClinVar
PMID:16636240, PMID:23176823, PMID:23486545, PMID:24337409, PMID:24482476, PMID:24517879, PMID:25417924, PMID:25741868, PMID:28492532, PMID:30311386, PMID:32488064 NCBI chr16:71,090,096...71,120,713
Ensembl chr16:71,090,045...71,118,552
JBrowse link
hereditary spastic paraplegia 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1563482 similar to hypothetical protein FLJ38663 ISO ClinVar Annotator: match by term: Spastic paraplegia 55, autosomal recessive OMIM
ClinVar
PMID:3479531, PMID:20598281, PMID:23188110, PMID:24080142, PMID:24198383, PMID:24424123, PMID:25326635, PMID:25741868, PMID:26539891, PMID:32581362 NCBI chr12:37,680,152...37,682,994
Ensembl chr12:37,677,019...37,699,616
JBrowse link
hereditary spastic paraplegia 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 56, autosomal recessive
ClinVar Annotator: match by OMIM:615030
OMIM
ClinVar
PMID:23176821, PMID:25558065, PMID:25741868, PMID:26914923, PMID:28492532, PMID:32860008 NCBI chr 2:236,414,131...236,431,650
Ensembl chr 2:236,414,135...236,431,683
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: Spastic paraplegia 57, autosomal recessive OMIM
ClinVar
PMID:22883144, PMID:23479643, PMID:23553329, PMID:23806086, PMID:24088041, PMID:24613659, PMID:25725944, PMID:25741868, PMID:26257172, PMID:27492651, PMID:28196470, PMID:28492532, PMID:29971521, PMID:30157421 NCBI chr11:46,180,189...46,206,723
Ensembl chr11:46,179,940...46,206,721
JBrowse link
hereditary spastic paraplegia 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr 2:236,414,131...236,431,650
Ensembl chr 2:236,414,135...236,431,683
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:270800
OMIM
ClinVar
CTD
PMID:7987300, PMID:9802883, PMID:12874406, PMID:15007371, PMID:18252231, PMID:18855023, PMID:19187859, PMID:19439420, PMID:19812052, PMID:21214876, PMID:21452256, PMID:21541746, PMID:21567895, PMID:21623769, PMID:21966169, PMID:22384504, PMID:23812641, PMID:24033266, PMID:24117163, PMID:24340040, PMID:24519355, PMID:24658845, PMID:24927729, PMID:25326635, PMID:25326637, PMID:25525159, PMID:25741868, PMID:26370385, PMID:26374131, PMID:26467025, PMID:26714052, PMID:27077743, PMID:27217339, PMID:27879216, PMID:27957547, PMID:28492532, PMID:28832565, PMID:30311386 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar PMID:25741868, PMID:28492532, PMID:29453417 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
JBrowse link
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:21981780, PMID:25741868, PMID:28492532 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
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: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193, PMID:23032108, PMID:25689425, PMID:28492532 NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
OMIM
ClinVar
PMID:7825577, PMID:14508710, PMID:15643603, PMID:15711826, PMID:16267846, PMID:17166836, PMID:17268193, PMID:17928003, PMID:19091982, PMID:19620182, PMID:20816793, PMID:21419568, PMID:21599812, PMID:22302102, PMID:22378146, PMID:23032108, PMID:23850684, PMID:24075313, PMID:24128679, PMID:25341883, PMID:25689425, PMID:25741868, PMID:26467025, PMID:27084228, PMID:28492532, PMID:28832565, PMID:30311386, PMID:32581362 NCBI chr 1:114,385,484...114,422,741
Ensembl chr 1:114,386,757...114,422,733
JBrowse link
G Nipa2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193, PMID:23032108, PMID:25689425, PMID:28492532 NCBI chr 1:114,346,005...114,371,907
Ensembl chr 1:114,348,038...114,371,897
JBrowse link
G Tubgcp5 tubulin, gamma complex associated protein 5 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193, PMID:23032108, PMID:25689425, PMID:28492532 NCBI chr 1:114,186,853...114,222,516
Ensembl chr 1:114,186,853...114,222,516
JBrowse link
hereditary spastic paraplegia 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6ip1 ADP-ribosylation factor like GTPase 6 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 61, autosomal recessive OMIM
ClinVar
PMID:28492532 NCBI chr 1:187,770,160...187,779,675
Ensembl chr 1:187,770,160...187,779,675
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 OMIM:615681
ClinVar Annotator: match by term: Spastic paraplegia 62, autosomal recessive
ClinVar
OMIM
PMID:24482476, PMID:28492532 NCBI chr 1:263,810,439...263,845,762
Ensembl chr 1:263,810,439...263,845,762
JBrowse link
hereditary spastic paraplegia 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive
ClinVar Annotator: match by OMIM:615686
OMIM
ClinVar
PMID:24482476, PMID:25741868, PMID:28492532 NCBI chr 2:210,861,624...210,874,348
Ensembl chr 2:210,861,625...210,874,304
JBrowse link
hereditary spastic paraplegia 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by OMIM:615683
ClinVar Annotator: match by term: Spastic paraplegia 64, autosomal recessive
ClinVar
OMIM
PMID:24482476, PMID:25741868, PMID:28492532, PMID:30652007 NCBI chr 1:259,692,020...259,818,922
Ensembl chr 1:259,739,955...259,819,494
JBrowse link
hereditary spastic paraplegia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:25741868 NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
JBrowse link
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin ISS OMIM:607259 MouseDO NCBI chr19:55,880,549...55,914,729
Ensembl chr19:55,880,561...55,915,502
JBrowse link
hereditary spastic paraplegia 72 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: Spastic paraplegia 72, autosomal recessive OMIM
ClinVar
PMID:24388663, PMID:25741868, PMID:28491902, PMID:28492532 NCBI chr18:27,632,562...27,641,594
Ensembl chr18:27,632,786...27,641,591
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: Spastic paraplegia 73, autosomal dominant OMIM
ClinVar
PMID:25741868, PMID:25751282, PMID:28492532 NCBI chr 1:100,955,094...100,970,579
Ensembl chr 1:100,955,095...100,969,560
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: Spastic paraplegia 74, autosomal recessive ClinVar
OMIM
PMID:25609768 NCBI chr10:45,506,124...45,514,909
Ensembl chr10:45,504,504...45,514,878
JBrowse link
hereditary spastic paraplegia 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Spastic paraplegia 75, autosomal recessive OMIM
ClinVar
PMID:24482476, PMID:25741868, PMID:26179919, PMID:28492532, PMID:28832565 NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
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 OMIM:616907
ClinVar Annotator: match by term: Spastic paraplegia 76, autosomal recessive
ClinVar
OMIM
PMID:25741868, PMID:27153400, PMID:32214227, PMID:32860008 NCBI chr 1:221,346,081...221,370,965
Ensembl chr 1:221,346,066...221,370,322
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: Spastic paraplegia 77, autosomal recessive ClinVar
OMIM
PMID:21234346, PMID:25741868, PMID:25851414, PMID:26553276, PMID:28043061, PMID:28492532, PMID:29126765, PMID:30869852 NCBI chr17:29,006,981...29,438,906
Ensembl chr17:29,006,988...29,438,668
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: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by OMIM:603563
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
ClinVar Annotator: match by term: Spastic paraplegia 8
ClinVar
OMIM
PMID:17160902, PMID:20833645, PMID:23455931, PMID:24759409, PMID:24824269, PMID:25741868, PMID:26467025, PMID:27957547, PMID:28492532 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
JBrowse link
hereditary spastic paraplegia 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A
DNA:mutations:cds:p.V243L, p.R252Q(human)
ClinVar Annotator: match by OMIM:601162
OMIM
ClinVar
PMID:8779323, PMID:9973297, PMID:24913064, PMID:25741868, PMID:26026163, PMID:26297558, PMID:28492532, PMID:26297558 RGD:11056004 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
hereditary spastic paraplegia 9B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive ClinVar
OMIM
PMID:25741868, PMID:26026163, PMID:26297558, PMID:30311386 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
MASA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel (human)
ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
ClinVar Annotator: match by term: L1 syndrome
ClinVar Annotator: match by term: MASA syndrome
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 1, X-LINKED
DNA:deletion:exon:
DNA:mutation:cds:924C>T(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:303350
ClinVar
CTD
OMIM
PMID:1303258, PMID:1870106, PMID:3460961, PMID:7562969, PMID:7881431, PMID:7920659, PMID:7920660, PMID:8062435, PMID:8401576, PMID:8401593, PMID:8826452, PMID:8929944, PMID:9300653, PMID:9610803, PMID:9643285, PMID:9744477, PMID:10469653, PMID:10767310, PMID:11772994, PMID:12725590, PMID:13889294, PMID:16650080, PMID:18136715, PMID:19846429, PMID:20447653, PMID:21271669, PMID:23820807, PMID:25644381, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386, PMID:30712878, PMID:31319225, PMID:31474318, PMID:31680349, PMID:32488064, PMID:7920660, PMID:8786080, PMID:9643285 RGD:6483061, RGD:11570406, RGD:11064095 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
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 OMIM:248900
OMIM
ClinVar
PMID:6024251, PMID:14564668, PMID:24451228, PMID:26467025, PMID:28492532 NCBI chr 8:70,994,531...71,022,302
Ensembl chr 8:70,994,563...71,022,331
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 PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant OMIM
ClinVar
PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr 4:157,726,941...157,733,644
Ensembl chr 4:157,726,941...157,733,643
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: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,291,192...57,309,638
Ensembl chr10:57,291,192...57,309,298
JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,278,271...57,283,661
Ensembl chr10:57,278,307...57,283,653
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:28492532, PMID:28832565 NCBI chr10:57,309,722...57,322,140
Ensembl chr10:57,309,972...57,317,985
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar Annotator: match by OMIM:611302
OMIM
ClinVar
PMID:17273843, PMID:24088041, PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:26633545, PMID:28492532, PMID:28687974, PMID:28832565 NCBI chr10:57,322,259...57,352,395
Ensembl chr10:57,322,331...57,351,353
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,239,993...57,240,948
Ensembl chr10:57,239,993...57,240,947
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,268,331...57,272,667
Ensembl chr10:57,268,375...57,272,660
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,284,989...57,291,146
Ensembl chr10:57,284,989...57,291,146
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: Ataxia, spastic, 3, autosomal recessive
ClinVar Annotator: match by OMIM:611390
OMIM
ClinVar
PMID:22448145, PMID:25741868 NCBI chr 9:64,434,814...64,437,730
Ensembl chr 9:64,434,904...64,436,664
Ensembl chr 9:64,434,904...64,436,664
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471, PMID:21450511, PMID:24033266, PMID:24180463 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
Spastic Paraplegia 78, Autosomal Recessive 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 PARAPLEGIA 78, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Spastic paraplegia 78, autosomal recessive
ClinVar
OMIM
PMID:12169656, PMID:16964263, PMID:17485642, PMID:18075584, PMID:18075585, PMID:18414213, PMID:19085912, PMID:19360675, PMID:19458722, PMID:19705361, PMID:20816920, PMID:21696388, PMID:22442086, PMID:22743658, PMID:22995991, PMID:25374329, PMID:25466404, PMID:25741868, PMID:26467025, PMID:27294386, PMID:28137957, PMID:28492532 NCBI chr 5:159,512,208...159,531,631
Ensembl chr 5:159,512,285...159,531,637
JBrowse link
Spastic Paraplegia 79, Autosomal Recessive 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 79, autosomal recessive
ClinVar Annotator: match by OMIM:615491
OMIM
ClinVar
PMID:3340629, PMID:4514348, PMID:23359680, PMID:25741868, PMID:28007905 NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
JBrowse link
Spastic Paraplegia 80, Autosomal Dominant 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
OMIM
PMID:25741868, PMID:25741869, PMID:30929741, PMID:31203368 NCBI chr 5:57,738,309...57,778,724
Ensembl chr 5:57,738,321...57,778,723
JBrowse link
Spastic Paraplegia 81, Autosomal Recessive 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:28052917, PMID:29500230 NCBI chr 6:27,473,748...27,512,287
Ensembl chr 6:27,473,748...27,512,287
JBrowse link
Spastic Paraplegia 82, Autosomal Recessive 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:28492532, PMID:31637422 NCBI chr10:109,788,348...109,795,743
Ensembl chr10:109,788,350...109,795,697
JBrowse link
Spastic Paraplegia 83, Autosomal Recessive 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:32707086 NCBI chr 5:135,675,826...135,677,432
Ensembl chr 5:135,675,832...135,677,432
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 Kidins220 kinase D-interacting substrate 220 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity
ClinVar
OMIM
PMID:25741868, PMID:27005418 NCBI chr 6:44,225,142...44,322,938
Ensembl chr 6:44,225,233...44,322,938
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:1314961, PMID:1332433 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly OMIM
ClinVar
PMID:1395931, PMID:19963421, PMID:25741868, PMID:25930971, PMID:26041762, PMID:26138499, PMID:27193218, PMID:29989513 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597
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 synonym: Troyer syndrome ClinVar PMID:24122788 NCBI chr 4:94,068,112...95,476,864
Ensembl chr 4:94,696,965...95,442,778
JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: Troyer syndrome
ClinVar Annotator: match by OMIM:275900
OMIM
ClinVar
PMID:6022528, PMID:12134148, PMID:15372254, PMID:18413476, PMID:18997780, PMID:19307600, PMID:20437587, PMID:20719964, PMID:23699601, PMID:24523286, PMID:25558065, PMID:25741868, PMID:26003402, PMID:26467025, PMID:27112432, PMID:28492532 NCBI chr 2:144,522,382...144,548,968
Ensembl chr 2:144,522,072...144,548,917
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          paraplegia 163
            hereditary spastic paraplegia 146
              3-methylglutaconic aciduria type 3 1
              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 0
              Hereditary Spastic Paralysis, Infantile Onset Ascending 1
              MASA syndrome 1
              MAST syndrome 1
              Mental Retardation Spasticity Ectrodactyly 0
              Roy Maroteaux Kremp Syndrome 0
              SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 1
              SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE 1
              Spastic Diplegia Infantile Type 0
              Spastic Paraplegia 78, Autosomal Recessive 1
              Spastic Paraplegia 79, Autosomal Recessive 1
              Spastic Paraplegia 80, Autosomal Dominant 1
              Spastic Paraplegia 81, Autosomal Recessive 1
              Spastic Paraplegia 82, Autosomal Recessive 1
              Spastic Paraplegia 83, 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, 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 Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 1
              Troyer syndrome 2
              Volcke Soekarman Syndrome 0
              hereditary spastic paraplegia 10 10
              hereditary spastic paraplegia 11 17
              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 1
              hereditary spastic paraplegia 18 1
              hereditary spastic paraplegia 19 0
              hereditary spastic paraplegia 2 5
              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 1
              hereditary spastic paraplegia 29 0
              hereditary spastic paraplegia 30 1
              hereditary spastic paraplegia 31 1
              hereditary spastic paraplegia 32 0
              hereditary spastic paraplegia 33 8
              hereditary spastic paraplegia 34 0
              hereditary spastic paraplegia 35 1
              hereditary spastic paraplegia 36 0
              hereditary spastic paraplegia 37 0
              hereditary spastic paraplegia 38 0
              hereditary spastic paraplegia 39 2
              hereditary spastic paraplegia 3A 2
              hereditary spastic paraplegia 4 8
              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 1
              hereditary spastic paraplegia 47 2
              hereditary spastic paraplegia 48 1
              hereditary spastic paraplegia 49 2
              hereditary spastic paraplegia 50 2
              hereditary spastic paraplegia 51 2
              hereditary spastic paraplegia 52 1
              hereditary spastic paraplegia 53 1
              hereditary spastic paraplegia 54 1
              hereditary spastic paraplegia 55 1
              hereditary spastic paraplegia 56 1
              hereditary spastic paraplegia 57 1
              hereditary spastic paraplegia 5A 6
              hereditary spastic paraplegia 6 4
              hereditary spastic paraplegia 61 1
              hereditary spastic paraplegia 62 1
              hereditary spastic paraplegia 63 1
              hereditary spastic paraplegia 64 1
              hereditary spastic paraplegia 7 2
              hereditary spastic paraplegia 72 1
              hereditary spastic paraplegia 73 1
              hereditary spastic paraplegia 74 1
              hereditary spastic paraplegia 75 1
              hereditary spastic paraplegia 76 1
              hereditary spastic paraplegia 77 1
              hereditary spastic paraplegia 8 5
              hereditary spastic paraplegia 9A 1
              hereditary spastic paraplegia 9B 1
              spastic ataxia 1 2
              spastic ataxia 2 11
              spastic ataxia 3 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          neurodegenerative disease 3201
            Nervous System Heredodegenerative Disorders 1954
              motor peripheral neuropathy 535
                hereditary spastic paraplegia 146
                  3-methylglutaconic aciduria type 3 1
                  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 0
                  Hereditary Spastic Paralysis, Infantile Onset Ascending 1
                  MASA syndrome 1
                  MAST syndrome 1
                  Mental Retardation Spasticity Ectrodactyly 0
                  Roy Maroteaux Kremp Syndrome 0
                  SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 1
                  SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE 1
                  Spastic Diplegia Infantile Type 0
                  Spastic Paraplegia 78, Autosomal Recessive 1
                  Spastic Paraplegia 79, Autosomal Recessive 1
                  Spastic Paraplegia 80, Autosomal Dominant 1
                  Spastic Paraplegia 81, Autosomal Recessive 1
                  Spastic Paraplegia 82, Autosomal Recessive 1
                  Spastic Paraplegia 83, 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, 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 Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 1
                  Troyer syndrome 2
                  Volcke Soekarman Syndrome 0
                  hereditary spastic paraplegia 10 10
                  hereditary spastic paraplegia 11 17
                  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 1
                  hereditary spastic paraplegia 18 1
                  hereditary spastic paraplegia 19 0
                  hereditary spastic paraplegia 2 5
                  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 1
                  hereditary spastic paraplegia 29 0
                  hereditary spastic paraplegia 30 1
                  hereditary spastic paraplegia 31 1
                  hereditary spastic paraplegia 32 0
                  hereditary spastic paraplegia 33 8
                  hereditary spastic paraplegia 34 0
                  hereditary spastic paraplegia 35 1
                  hereditary spastic paraplegia 36 0
                  hereditary spastic paraplegia 37 0
                  hereditary spastic paraplegia 38 0
                  hereditary spastic paraplegia 39 2
                  hereditary spastic paraplegia 3A 2
                  hereditary spastic paraplegia 4 8
                  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 1
                  hereditary spastic paraplegia 47 2
                  hereditary spastic paraplegia 48 1
                  hereditary spastic paraplegia 49 2
                  hereditary spastic paraplegia 50 2
                  hereditary spastic paraplegia 51 2
                  hereditary spastic paraplegia 52 1
                  hereditary spastic paraplegia 53 1
                  hereditary spastic paraplegia 54 1
                  hereditary spastic paraplegia 55 1
                  hereditary spastic paraplegia 56 1
                  hereditary spastic paraplegia 57 1
                  hereditary spastic paraplegia 5A 6
                  hereditary spastic paraplegia 6 4
                  hereditary spastic paraplegia 61 1
                  hereditary spastic paraplegia 62 1
                  hereditary spastic paraplegia 63 1
                  hereditary spastic paraplegia 64 1
                  hereditary spastic paraplegia 7 2
                  hereditary spastic paraplegia 72 1
                  hereditary spastic paraplegia 73 1
                  hereditary spastic paraplegia 74 1
                  hereditary spastic paraplegia 75 1
                  hereditary spastic paraplegia 76 1
                  hereditary spastic paraplegia 77 1
                  hereditary spastic paraplegia 8 5
                  hereditary spastic paraplegia 9A 1
                  hereditary spastic paraplegia 9B 1
                  spastic ataxia 1 2
                  spastic ataxia 2 11
                  spastic ataxia 3 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.