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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:paraplegia
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Accession:DOID:607 term browser browse the term
Definition:Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness.
Synonyms:exact_synonym: Ataxic Paraplegia;   Cerebral Paraplegia;   Cerebral Paraplegias;   Flaccid Paraplegia;   Flaccid Paraplegias;   Paralysis, Legs;   Paralysis, Lower Extremities;   Paralysis, Lower Limbs;   Paraplegias;   Spastic Paraplegia;   Spastic Paraplegias;   Spinal Paraplegia;   ataxic paraplegias;   lower paraplegia;   spinal paraplegias
 primary_id: MESH:D010264
 xref: GARD:7327;   ICD10CM:G82.2;   ICD9CM:344.1;   NCI:C50687
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16A abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:34587489 NCBI chr 6:31,348,640...31,364,777
Ensembl chr 6:32,238,872...32,253,856
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO mRNA:decreased expression:soleus RGD PMID:18236467 RGD:5509082 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18414213 PMID:21440262 PMID:21620353 PMID:22290197 PMID:24700674 More... NCBI chr 1:88,652,196...88,662,237
Ensembl chr 1:123,701,343...123,711,481
JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21620353 PMID:21937992 More... NCBI chr15:29,857,818...29,957,158
Ensembl chr15:48,195,581...48,288,895
JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21937992 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 More... NCBI chr 7:92,137,085...92,142,756
Ensembl chr 7:105,570,205...105,575,971
JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21620353 More... NCBI chr14:11,797,778...11,868,127
Ensembl chr14:29,996,877...30,063,239
JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 7:5,027,987...5,044,215
Ensembl chr 7:5,068,846...5,085,087
JBrowse link
G ARSI arylsulfatase family member I ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 NCBI chr 5:145,720,651...145,763,532
Ensembl chr 5:151,725,264...151,732,277
JBrowse link
G ATG7 autophagy related 7 ISO RGD PMID:23055316 RGD:11557990 NCBI chr 3:11,208,600...11,488,757
Ensembl chr 3:11,554,100...11,833,398
JBrowse link
G ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:16537571 More... NCBI chr14:31,122,551...31,222,537
Ensembl chr14:49,476,733...49,524,392
JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:24103911 More... NCBI chr12:31,293,531...31,303,341
Ensembl chr12:31,553,671...31,562,988
JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:soleus muscle RGD PMID:23055316 RGD:11557990 NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:26998597 PMID:28492532 NCBI chr 9:63,834,515...63,890,904
Ensembl chr 9:91,909,771...91,959,131
JBrowse link
G BIRC6 baculoviral IAP repeat containing 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr2A:32,373,479...32,633,088
Ensembl chr2A:33,084,929...33,343,245
JBrowse link
G CCIN calicin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:36,014,394...36,021,056
Ensembl chr 9:36,820,373...36,822,139
JBrowse link
G CLTA clathrin light chain A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:36,040,566...36,061,744
Ensembl chr 9:36,840,868...36,862,528
JBrowse link
G CPT1C carnitine palmitoyltransferase 1C ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 NCBI chr19:46,705,711...46,727,996
Ensembl chr19:55,626,831...55,647,394
JBrowse link
G CREB3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,583,351...35,587,870
Ensembl chr 9:36,385,867...36,390,540
JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23176821 PMID:25558065 PMID:25741868 PMID:26936192 PMID:27292318 More... NCBI chr 4:100,436,365...100,458,845
Ensembl chr 4:111,009,198...111,031,269
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 8:61,135,307...61,335,838
Ensembl chr 8:62,806,637...63,006,386
JBrowse link
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr2A:32,044,604...32,060,204
Ensembl chr2A:32,111,566...32,125,242
JBrowse link
G EGR2 early growth response 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr10:59,320,073...59,326,869
Ensembl chr10:61,648,364...61,652,846
JBrowse link
G ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21330303 PMID:23109145 More... NCBI chr 8:37,034,391...37,057,164
Ensembl chr 8:34,212,704...34,233,583
JBrowse link
G FA2H fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:20104589 PMID:20853438 More... NCBI chr16:55,278,769...55,340,332
Ensembl chr16:74,632,179...74,693,710
JBrowse link
G FAM221B family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,668,180...35,679,557
Ensembl chr 9:36,471,284...36,479,018
JBrowse link
G FOXO4 forkhead box O4 ISO protein:increased expression:skeletal muscle: RGD PMID:18236467 RGD:5509082 NCBI chr  X:60,364,466...60,372,147
Ensembl chr  X:70,422,504...70,429,971
JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23332916 PMID:23332917 More... NCBI chr 9:35,587,876...35,599,971
Ensembl chr 9:36,390,409...36,402,949
JBrowse link
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:8733901 PMID:15192806 PMID:18094336 PMID:20513814 PMID:20695017 More... NCBI chr 1:203,551,556...203,561,702 JBrowse link
G GLIPR2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,986,341...36,013,662
Ensembl chr 9:36,787,649...36,814,812
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588
JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,663,433...35,666,479
Ensembl chr 9:36,465,806...36,468,325
JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:32707086 PMID:33188300 PMID:33970200 NCBI chr 1:44,629,560...44,631,394
Ensembl chr 1:45,988,494...45,989,609
JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,756,749...35,762,219
Ensembl chr 9:36,559,012...36,559,362
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:17420924 PMID:18414213 PMID:19706612 PMID:22552817 PMID:24033266 More... NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959
JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 1:203,566,902...203,577,857 JBrowse link
G KDM5C lysine demethylase 5C ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15586325 PMID:16199547 PMID:18414213 PMID:18697827 PMID:22326837 More... NCBI chr  X:45,377,609...45,440,025
Ensembl chr  X:53,515,886...53,548,785
JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:24088041 PMID:25265257 PMID:25326635 More... NCBI chr2B:127,969,494...128,078,282
Ensembl chr2B:246,778,679...246,860,326
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:15452312 PMID:16476820 PMID:16489470 PMID:17576681 More... NCBI chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:7562969 PMID:7762552 PMID:7920659 PMID:8062435 PMID:8069317 More... NCBI chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228
JBrowse link
G LOC100981170 olfactory receptor 13J1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,718,990...35,722,649 JBrowse link
G MSMP microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,603,948...35,605,085
Ensembl chr 9:36,406,679...36,407,845
JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9285787 PMID:9305655 PMID:10790201 PMID:11793470 PMID:12646134 More... NCBI chr  X:140,218,742...140,323,495
Ensembl chr  X:150,174,758...150,255,381
JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:20598281 PMID:24033266 PMID:24284555 PMID:24424123 PMID:25741868 More... NCBI chr12:120,831,264...120,856,215
Ensembl chr12:125,064,881...125,089,615
JBrowse link
G NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 More... Ensembl chr15:20,617,547...20,655,686 JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:32581362 NCBI chr2A:32,241,782...32,284,041
Ensembl chr2A:32,954,185...32,996,465
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:Lumbar segment of spinal cord, bone marrow-derived macrophage (rat) RGD PMID:21959174 RGD:5509577 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NPR2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637
JBrowse link
G RDH11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr14:48,256,951...48,275,831
Ensembl chr14:67,135,366...67,154,286
JBrowse link
G RDH12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr14:48,297,854...48,314,502
Ensembl chr14:67,180,696...67,192,345
JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,886,741...35,974,133
Ensembl chr 9:36,699,631...36,774,116
JBrowse link
G REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:16826527 PMID:18321925 PMID:18644145 PMID:20718791 PMID:22703882 More... NCBI chr2A:86,268,147...86,391,520
Ensembl chr2A:87,814,047...87,936,984
JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,600,213...35,641,371
Ensembl chr 9:36,403,447...36,411,420
JBrowse link
G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:31636353 NCBI chr 8:42,097,900...42,145,327
Ensembl chr 8:39,541,479...39,588,163
JBrowse link
G RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:22232211 PMID:25741868 PMID:26467025 PMID:27165006 PMID:28166811 More... NCBI chr19:42,434,085...42,446,862
Ensembl chr19:51,030,708...51,043,404
JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9673983 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 More... NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:17159128 PMID:19569000 PMID:20981092 PMID:23941260 PMID:25741868 More... NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9673983 PMID:18285821 PMID:18398442 PMID:18465152 PMID:19031088 More... NCBI chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350
JBrowse link
G SLC16A2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15488219 PMID:15889350 PMID:16199547 PMID:16957765 PMID:17899191 More... NCBI chr  X:63,673,992...63,787,011
Ensembl chr  X:73,791,200...73,903,727
JBrowse link
G SLC19A3 solute carrier family 19 member 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 NCBI chr2B:114,925,990...114,957,841
Ensembl chr2B:233,736,050...233,764,514
JBrowse link
G SLC30A6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:32581362 NCBI chr2A:32,183,308...32,238,261
Ensembl chr2A:32,896,053...32,953,830
JBrowse link
G SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:22243965 PMID:24583203 PMID:25741868 PMID:26467025 PMID:27306358 More... NCBI chr 3:152,882,563...152,910,434
Ensembl chr 3:160,933,258...160,961,723
JBrowse link
G SPAG8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,658,541...35,662,920
Ensembl chr 9:36,460,951...36,465,112
JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:16199547 PMID:16240363 PMID:20932283 PMID:23833562 PMID:25341883 More... NCBI chr2A:32,085,245...32,175,137
Ensembl chr2A:32,150,792...32,885,029
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:23043354 PMID:23733235 More... NCBI chr15:23,519,311...23,620,532
Ensembl chr15:41,688,081...41,788,616
JBrowse link
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:11774073 PMID:17576681 PMID:22958904 PMID:26467025 More... NCBI chr12:6,582,266...6,592,762
Ensembl chr12:6,499,429...6,509,844
JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,549,328...35,583,376
Ensembl chr 9:36,351,836...36,379,228
JBrowse link
G TMEM8B transmembrane protein 8B ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,679,698...35,704,945
Ensembl chr 9:36,482,289...36,507,300
JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394
JBrowse link
G TTC27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr2A:32,642,274...32,837,116
Ensembl chr2A:33,353,005...33,548,832
JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:11774073 PMID:17576681 PMID:22958904 PMID:26467025 More... NCBI chr12:6,592,688...6,601,317
Ensembl chr12:6,509,762...6,518,459
JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15034582 PMID:20604808 PMID:22270372 PMID:22909335 PMID:23333620 More... NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588
JBrowse link
G WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:121,710,118...121,777,977
Ensembl chr 8:124,461,424...124,529,262
JBrowse link
G YIPF4 Yip1 domain family member 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr2A:32,296,515...32,333,490
Ensembl chr2A:33,008,485...33,036,535
JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 More... NCBI chr14:48,326,517...48,396,486
Ensembl chr14:67,206,236...67,273,580
JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28166811 More... NCBI chr10:94,353,624...94,377,430
Ensembl chr10:97,848,176...97,871,958
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100974096 mitochondrial import inner membrane translocase subunit TIM14 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 3:178,019,161...178,025,272
Ensembl chr 3:186,191,128...186,195,666
JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 OMIM
ClinVar
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr19:42,477,467...42,546,814
Ensembl chr19:51,073,322...51,130,555
JBrowse link
DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5MC3 ATP synthase membrane subunit c locus 3 ISO ClinVar Annotator: match by term: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA OMIM
ClinVar
PMID:19006192 PMID:34636445 NCBI chr2B:62,454,409...62,458,067
Ensembl chr2B:179,904,984...179,909,159
JBrowse link
Hereditary Spastic Paralysis, Infantile Onset Ascending term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending OMIM
ClinVar
PMID:9536098 PMID:11586297 PMID:11586298 PMID:12145748 PMID:12509863 More... NCBI chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623
JBrowse link
hereditary spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16A abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Complex hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 6:31,348,640...31,364,777
Ensembl chr 6:32,238,872...32,253,856
JBrowse link
G ADAM28 ADAM metallopeptidase domain 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 8:23,549,892...23,623,859
Ensembl chr 8:20,474,029...20,540,692
JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:92,216,639...92,267,525
Ensembl chr10:95,723,099...95,774,095
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:14676054 PMID:18852346 PMID:20077034 PMID:23881933 PMID:25174650 More... NCBI chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623
JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 1:111,997,440...112,009,662
Ensembl chr 1:111,225,522...111,237,778
JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 More... NCBI chr 1:88,652,196...88,662,237
Ensembl chr 1:123,701,343...123,711,481
JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:26544806 PMID:28492532 NCBI chr15:29,857,818...29,957,158
Ensembl chr15:48,195,581...48,288,895
JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28832565 More... NCBI chr 7:92,137,085...92,142,756
Ensembl chr 7:105,570,205...105,575,971
JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr14:11,797,778...11,868,127
Ensembl chr14:29,996,877...30,063,239
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 chr11:61,132,012...61,139,078 JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:20613862 PMID:24033266 PMID:24833714 PMID:24926664 PMID:25333062 More... NCBI chr 7:5,027,987...5,044,215
Ensembl chr 7:5,068,846...5,085,087
JBrowse link
G ARHGAP9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr12:31,445,732...31,453,763
Ensembl chr12:31,693,309...31,710,064
JBrowse link
G ARSI arylsulfatase family member I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 5:145,720,651...145,763,532
Ensembl chr 5:151,725,264...151,732,277
JBrowse link
G ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:15596607 More... NCBI chr14:31,122,551...31,222,537
Ensembl chr14:49,476,733...49,524,392
JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23664116 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28492532 More... NCBI chr 9:63,834,515...63,890,904
Ensembl chr 9:91,909,771...91,959,131
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15732094 More... NCBI chr11:58,046,842...58,064,219
Ensembl chr11:61,399,314...61,416,494
JBrowse link
G C19H19orf12 chromosome 19 C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21981780 PMID:24361204 PMID:25558065 PMID:25741868 PMID:27112773 More... NCBI chr19:26,626,994...26,643,372
Ensembl chr19:35,385,884...35,401,408
JBrowse link
G CCT5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 5:10,565,911...10,580,808
Ensembl chr 5:10,424,157...10,440,613
JBrowse link
G CEP63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 3:131,532,450...131,609,240
Ensembl chr 3:139,003,898...139,092,680
JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:99,519,187...99,687,138
Ensembl chr10:102,982,148...103,137,580
JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 NCBI chr 4:100,436,365...100,458,845
Ensembl chr 4:111,009,198...111,031,269
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:1943942 PMID:2411763 PMID:7987300 PMID:12874406 PMID:15007371 More... NCBI chr 8:61,135,307...61,335,838
Ensembl chr 8:62,806,637...63,006,386
JBrowse link
G DCLRE1B DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:88,643,664...88,651,962
Ensembl chr 1:123,692,915...123,701,403
JBrowse link
G DDHD1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23176821 PMID:24989667 PMID:25741868 PMID:26944165 PMID:27216551 More... NCBI chr14:33,640,543...33,752,343
Ensembl chr14:51,922,230...52,032,780
JBrowse link
G DDHD2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:23176823 PMID:24337409 PMID:24517879 More... NCBI chr 8:37,533,579...37,564,864
Ensembl chr 8:34,711,446...34,741,471
JBrowse link
G DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 1:14,664,286...14,710,171
Ensembl chr 1:15,659,107...15,707,329
JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar NCBI chr15:23,493,363...23,518,705 JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:92,365,267...92,511,852
Ensembl chr10:95,828,094...95,983,257
JBrowse link
G ERLIN1 ER lipid raft associated 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:96,756,261...96,791,925
Ensembl chr10:100,238,320...100,273,942
JBrowse link
G ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:28832565 PMID:30564185 NCBI chr 8:37,034,391...37,057,164
Ensembl chr 8:34,212,704...34,233,583
JBrowse link
G FA2H fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:20104589 PMID:22146942 PMID:23566484 PMID:24033266 More... NCBI chr16:55,278,769...55,340,332
Ensembl chr16:74,632,179...74,693,710
JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr11:59,393,536...59,477,611
Ensembl chr11:62,820,380...62,822,404
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr2B:58,100,623...58,145,045
Ensembl chr2B:175,558,538...175,602,944
JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:20593214 PMID:23332916 PMID:23332917 PMID:25741868 PMID:26220345 More... NCBI chr 9:35,587,876...35,599,971
Ensembl chr 9:36,390,409...36,402,949
JBrowse link
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:22351697 PMID:22833003 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:203,551,556...203,561,702 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:18414213 PMID:22552817 PMID:24033266 PMID:25741868 More... RGD:1624200 NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:21376300 PMID:25265257 PMID:25585697 PMID:25741868 PMID:26077850 More... NCBI chr2B:127,969,494...128,078,282
Ensembl chr2B:246,778,679...246,860,326
JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:24088041 PMID:24482476 PMID:25741868 More... NCBI chr17:5,046,488...5,073,220
Ensembl chr17:5,035,014...5,061,957
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15452312 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 More... NCBI chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
JBrowse link
G KY kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 3:131,646,356...131,697,727
Ensembl chr 3:139,120,711...139,168,785
JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9195224 PMID:9268105 PMID:10797421 PMID:11438988 PMID:11772994 More... NCBI chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr14:30,832,194...30,901,922
Ensembl chr14:49,132,396...49,205,993
JBrowse link
G MACROD1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr11:59,355,525...59,525,620 JBrowse link
G MAG myelin associated glycoprotein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr19:32,238,457...32,260,497
Ensembl chr19:40,975,763...40,997,401
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr12:31,410,231...31,438,015
Ensembl chr12:31,668,708...31,693,839
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:6,813,498...6,825,153
Ensembl chr19:7,671,704...7,683,093
JBrowse link
G MILR1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193
JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:120,831,264...120,856,215
Ensembl chr12:125,064,881...125,089,615
JBrowse link
G MYT1 myelin transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar Ensembl chr20:62,108,924...62,151,936 JBrowse link
G NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 More... Ensembl chr15:20,617,547...20,655,686 JBrowse link
G NRG1 neuregulin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513
JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:84,076,945...84,166,385
Ensembl chr2B:201,983,321...202,064,467
JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 1:5,228,681...5,259,554
Ensembl chr 1:6,481,782...6,535,643
JBrowse link
G PLP1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:93,015,098...93,031,193
Ensembl chr  X:103,353,184...103,412,513
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:9536098 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503
JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 NCBI chr  X:41,188,244...41,200,312
Ensembl chr  X:49,053,030...49,058,585
JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:93,060,899...93,070,911
Ensembl chr  X:103,444,776...103,445,381
JBrowse link
G REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:16199547 PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 More... NCBI chr2A:86,268,147...86,391,520
Ensembl chr2A:87,814,047...87,936,984
JBrowse link
G RETREG1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 5:16,774,596...16,920,948 JBrowse link
G RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 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 SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10610707 PMID:10655055 PMID:11788093 PMID:14718706 PMID:15156359 More... NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:17096168 PMID:17159128 PMID:18058631 PMID:19569000 PMID:19696032 More... NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
JBrowse link
G SLC16A2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:23568789 PMID:24265446 PMID:24721225 PMID:25527620 More... NCBI chr  X:63,673,992...63,787,011
Ensembl chr  X:73,791,200...73,903,727
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529
JBrowse link
G SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:24583203 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:152,882,563...152,910,434
Ensembl chr 3:160,933,258...160,961,723
JBrowse link
G SPART spartin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:17,514,720...17,582,011
Ensembl chr13:35,945,938...35,989,774
JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:10610178 PMID:10699187 PMID:11015453 PMID:11039577 More... NCBI chr2A:32,085,245...32,175,137
Ensembl chr2A:32,150,792...32,885,029
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 More... NCBI chr15:23,519,311...23,620,532
Ensembl chr15:41,688,081...41,788,616
JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin susceptibility ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia RGD
ClinVar
PMID:14564668 PMID:25741868 PMID:26467025 PMID:28492532 RGD:1556574 NCBI chr15:43,902,865...43,929,663
Ensembl chr15:62,187,767...62,213,741
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:27406698 PMID:28492532 PMID:30681437 PMID:32209221 More... NCBI chr14:82,984,313...83,120,853
Ensembl chr14:102,814,542...102,932,587
JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
JBrowse link
G USP50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr15:29,450,804...29,500,515
Ensembl chr15:47,790,100...47,839,619
JBrowse link
G USP8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr15:29,374,945...29,451,235
Ensembl chr15:47,713,997...47,790,624
JBrowse link
G VPS37A VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:16,459,660...16,508,333
Ensembl chr 8:13,404,889...13,456,046
JBrowse link
G WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:17160902 PMID:25741868 PMID:26467025 PMID:27957547 PMID:28492532 NCBI chr 8:121,710,118...121,777,977
Ensembl chr 8:124,461,424...124,529,262
JBrowse link
G WDR48 WD repeat domain 48 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 3:38,948,440...38,992,872
Ensembl chr 3:39,228,920...39,273,300
JBrowse link
G ZFR zinc finger RNA binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 5:77,890,015...77,980,332
Ensembl chr 5:83,295,040...83,361,615
JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:6944241 PMID:16199547 PMID:18394578 PMID:19805727 PMID:19917823 More... NCBI chr14:48,326,517...48,396,486
Ensembl chr14:67,206,236...67,273,580
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 chr14:31,122,551...31,222,537
Ensembl chr14:49,476,733...49,524,392
JBrowse link
G 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 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 KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant OMIM
ClinVar
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 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 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 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 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 SPAST spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:26467025 PMID:28492532 NCBI chr2A:32,085,245...32,175,137
Ensembl chr2A:32,150,792...32,885,029
JBrowse link
G 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 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
hereditary spastic paraplegia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar NCBI chr15:23,493,363...23,518,705 JBrowse link
G PATL2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:28492532 NCBI chr15:23,622,330...23,667,962
Ensembl chr15:41,790,682...41,801,825
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 OMIM
ClinVar
PMID:2795747 PMID:9536098 PMID:16199547 PMID:16773502 PMID:17322883 More... NCBI chr15:23,519,311...23,620,532
Ensembl chr15:41,688,081...41,788,616
JBrowse link
G TBR1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr2B:48,709,687...48,719,382 JBrowse link
G TRIM69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr15:23,691,927...23,724,349
Ensembl chr15:41,861,525...41,893,069
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 OMIM
ClinVar
PMID:10677333 PMID:12427890 PMID:22232211 PMID:25741868 PMID:26467025 More... NCBI chr19:42,434,085...42,446,862
Ensembl chr19:51,030,708...51,043,404
JBrowse link
hereditary spastic paraplegia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 13 OMIM
ClinVar
PMID:10677329 PMID:17420924 PMID:18414213 PMID:22552817 PMID:24033266 More... NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959
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 OMIM
ClinVar
PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 More... NCBI chr14:48,326,517...48,396,486
Ensembl chr14:67,206,236...67,273,580
JBrowse link
hereditary spastic paraplegia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 OMIM
ClinVar
PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 More... NCBI chr11:58,046,842...58,064,219
Ensembl chr11:61,399,314...61,416,494
JBrowse link
G SON SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 ClinVar PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 More... NCBI chr21:19,910,024...19,944,511
Ensembl chr21:33,282,910...33,316,007
JBrowse link
hereditary spastic paraplegia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 OMIM
ClinVar
PMID:21330303 PMID:23109145 PMID:25741868 NCBI chr 8:37,034,391...37,057,164
Ensembl chr 8:34,212,704...34,233,583
JBrowse link
hereditary spastic paraplegia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MORF4L2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:92,904,721...92,917,340 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 OMIM
ClinVar
PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:7522741 More... NCBI chr  X:93,015,098...93,031,193
Ensembl chr  X:103,353,184...103,412,513
JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED ClinVar PMID:2479017 PMID:2480601 PMID:2773936 PMID:7522741 PMID:7531827 More... NCBI chr  X:93,060,899...93,070,911
Ensembl chr  X:103,444,776...103,445,381
JBrowse link
G TCEAL1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:92,855,974...92,859,868
Ensembl chr  X:103,239,842...103,240,318
JBrowse link
G TCEAL3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:92,836,622...92,838,858 JBrowse link
G TCEAL4 transcription elongation factor A like 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:92,805,214...92,819,144
Ensembl chr  X:103,186,468...103,197,948
JBrowse link
hereditary spastic paraplegia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSTYK dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33624863 NCBI chr 1:180,750,987...180,820,096
Ensembl chr 1:185,041,994...185,107,041
JBrowse link
hereditary spastic paraplegia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 26 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:25741868 More... NCBI chr12:31,293,531...31,303,341
Ensembl chr12:31,553,671...31,562,988
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: Hereditary spastic paraplegia 28 OMIM
ClinVar
PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 More... NCBI chr14:33,640,543...33,752,343
Ensembl chr14:51,922,230...52,032,780
JBrowse link
hereditary spastic paraplegia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,125,289...128,137,091
Ensembl chr2B:246,928,784...246,939,837
JBrowse link
G ANKMY1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:127,726,417...127,813,127
Ensembl chr2B:246,530,950...246,620,097
JBrowse link
G ANO7 anoctamin 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,458,076...128,496,307
Ensembl chr2B:247,254,473...247,290,136
JBrowse link
G AQP12A aquaporin 12A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:127,947,156...127,954,054 JBrowse link
G ASB1 ankyrin repeat and SOCS box containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:125,664,934...125,690,175
Ensembl chr2B:244,508,295...244,527,771
JBrowse link
G ATG4B autophagy related 4B cysteine peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,913,323...128,950,112
Ensembl chr2B:247,702,880...247,738,977
JBrowse link
G BOK BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,832,458...128,847,918
Ensembl chr2B:247,626,494...247,640,238
JBrowse link
G CAPN10 calpain 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:127,838,477...127,851,334
Ensembl chr2B:246,645,630...246,679,169
JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:124,554,478...124,644,482 JBrowse link
G COPS9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:127,373,916...127,379,543
Ensembl chr2B:246,186,565...246,196,471
JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:129,012,616...129,045,873
Ensembl chr2B:247,799,219...247,830,621
JBrowse link
G DTYMK deoxythymidylate kinase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,952,009...128,963,640
Ensembl chr2B:247,740,881...247,752,504
JBrowse link
G ERFE erythroferrone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:125,390,190...125,401,677 JBrowse link
G ESPNL espin like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:125,331,809...125,364,719
Ensembl chr2B:244,182,781...244,214,009
JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,627,208...128,766,233
Ensembl chr2B:247,438,265...247,559,735
JBrowse link
G GPC1 glypican 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:127,684,839...127,717,294
Ensembl chr2B:246,511,082...246,523,569
JBrowse link
G GPR35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:127,853,660...127,887,204
Ensembl chr2B:246,680,998...246,692,090
JBrowse link
G HDAC4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
JBrowse link
G HDLBP high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,498,647...128,587,305
Ensembl chr2B:247,293,154...247,335,318
JBrowse link
G HES6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:125,471,244...125,473,025 JBrowse link
G ILKAP ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:125,403,220...125,436,614
Ensembl chr2B:244,253,970...244,278,317
JBrowse link
G ING5 inhibitor of growth family member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,979,282...129,007,476
Ensembl chr2B:247,755,552...247,793,893
JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16434418 PMID:17576681 PMID:18414213 More... NCBI chr2B:127,969,494...128,078,282
Ensembl chr2B:246,778,679...246,860,326
JBrowse link
G KLHL30 kelch like family member 30 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:125,370,477...125,386,866
Ensembl chr2B:244,220,949...244,234,879
JBrowse link
G LOC100968789 olfactory receptor 6B3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:127,289,492...127,290,483
Ensembl chr2B:246,105,172...246,106,170
JBrowse link
G LOC100969138 olfactory receptor 6B2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:127,273,084...127,276,009
Ensembl chr2B:246,090,216...246,091,154
JBrowse link
G LOC100983171 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr12:130,906,218...130,914,157
Ensembl chr2B:247,839,465...247,868,899
JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:124,856,660...125,013,602
Ensembl chr2B:243,775,371...243,863,116
JBrowse link
G MAB21L4 mab-21 like 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,144,248...128,154,670
Ensembl chr2B:246,946,812...246,956,949
JBrowse link
G MLPH melanophilin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:124,716,573...124,781,829
Ensembl chr2B:243,569,782...243,633,177
JBrowse link
G MTERF4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,330,967...128,362,014
Ensembl chr2B:247,128,252...247,158,239
JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:127,204,900...127,269,478
Ensembl chr2B:246,022,168...246,087,658
JBrowse link
G NEU4 neuraminidase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:129,087,519...129,093,811 JBrowse link
G OTOS otospiralin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:127,381,936...127,383,875
Ensembl chr2B:246,199,022...246,200,861
JBrowse link
G PASK PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,364,745...128,418,837
Ensembl chr2B:247,162,011...247,214,803
JBrowse link
G PDCD1 programmed cell death 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:129,111,509...129,121,127 JBrowse link
G PER2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:125,477,021...125,521,577
Ensembl chr2B:244,328,122...244,371,040
JBrowse link
G PPP1R7 protein phosphatase 1 regulatory subunit 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,418,212...128,452,417
Ensembl chr2B:247,214,882...247,248,761
JBrowse link
G PRLH prolactin releasing hormone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:124,795,504...124,796,107
Ensembl chr2B:243,642,958...243,646,867
JBrowse link
G RAB17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:124,802,789...124,820,775
Ensembl chr2B:243,654,176...243,671,003
JBrowse link
G RAMP1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:125,092,164...125,144,032
Ensembl chr2B:243,942,771...243,995,221
JBrowse link
G RBM44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:125,032,071...125,075,989 JBrowse link
G RNPEPL1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:127,820,523...127,830,863 JBrowse link
G SCLY selenocysteine lyase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:125,276,540...125,331,057
Ensembl chr2B:244,144,105...244,181,767
JBrowse link
G SEPTIN2 septin 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,586,659...128,624,991
Ensembl chr2B:247,380,771...247,419,556
JBrowse link
G SNED1 sushi, nidogen and EGF like domains 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,253,888...128,351,819
Ensembl chr2B:247,085,509...247,144,421
JBrowse link
G STK25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,766,408...128,779,939
Ensembl chr2B:247,560,624...247,574,249
JBrowse link
G THAP4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:128,858,512...128,913,474
Ensembl chr2B:247,650,249...247,701,219
JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:125,558,537...125,637,733
Ensembl chr2B:244,405,992...244,481,785
JBrowse link
G TWIST2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:126,080,684...126,143,677 JBrowse link
G UBE2F ubiquitin conjugating enzyme E2 F (putative) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr2B:125,198,590...125,274,112
Ensembl chr2B:244,050,518...244,125,333
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: Hereditary spastic paraplegia 31 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16826527 PMID:17576681 PMID:18321925 More... NCBI chr2A:86,268,147...86,391,520
Ensembl chr2A:87,814,047...87,936,984
JBrowse link
hereditary spastic paraplegia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4M1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:28492532 NCBI chr 7:92,137,085...92,142,756
Ensembl chr 7:105,570,205...105,575,971
JBrowse link
G ATP13A2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:25741868 NCBI chr 1:15,929,613...15,955,631
Ensembl chr 1:16,986,385...17,006,033
Ensembl chr 1:16,986,385...17,006,033
JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: Spastic tetraparesis OMIM
ClinVar
PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28492532 More... NCBI chr10:94,353,624...94,377,430
Ensembl chr10:97,848,176...97,871,958
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: Hereditary spastic paraplegia 35 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19068277 PMID:20104589 More... NCBI chr16:55,278,769...55,340,332
Ensembl chr16:74,632,179...74,693,710
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: Hereditary spastic paraplegia 39 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:6,813,498...6,825,153
Ensembl chr19:7,671,704...7,683,093
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 OMIM
ClinVar
PMID:3963113 PMID:8053762 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241
JBrowse link
hereditary spastic paraplegia 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A OMIM
ClinVar
PMID:4684346 PMID:8252041 PMID:9536098 PMID:11685207 PMID:12112092 More... NCBI chr14:31,122,551...31,222,537
Ensembl chr14:49,476,733...49,524,392
JBrowse link
G MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:9536098 PMID:17576681 PMID:26467025 PMID:28492532 NCBI chr14:31,008,177...31,122,127
Ensembl chr14:49,311,733...49,425,520
JBrowse link
hereditary spastic paraplegia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC6 baculoviral IAP repeat containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr2A:32,373,479...32,633,088
Ensembl chr2A:33,084,929...33,343,245
JBrowse link
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:28492532 NCBI chr2A:32,044,604...32,060,204
Ensembl chr2A:32,111,566...32,125,242
JBrowse link
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 PMID:25802881 PMID:29072892 PMID:34008892 NCBI chr20:55,190,607...55,262,245 JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 NCBI chr2A:32,956,937...33,409,286
Ensembl chr2A:33,667,191...34,120,602
JBrowse link
G MEMO1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr2A:31,887,899...32,032,155
Ensembl chr2A:31,956,831...32,051,337
JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr2A:32,241,782...32,284,041
Ensembl chr2A:32,954,185...32,996,465
JBrowse link
G SLC30A6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr2A:32,183,308...32,238,261
Ensembl chr2A:32,896,053...32,953,830
JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of OMIM
ClinVar
PMID:9536098 PMID:9695811 PMID:10493830 PMID:10610178 PMID:10699187 More... NCBI chr2A:32,085,245...32,175,137
Ensembl chr2A:32,150,792...32,885,029
JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr2A:31,542,646...31,597,394
Ensembl chr2A:31,610,487...31,665,718
JBrowse link
G TTC27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr2A:32,642,274...32,837,116
Ensembl chr2A:33,353,005...33,548,832
JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
JBrowse link
G YIPF4 Yip1 domain family member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr2A:32,296,515...32,333,490
Ensembl chr2A:33,008,485...33,036,535
JBrowse link
hereditary spastic paraplegia 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 42 OMIM
ClinVar
PMID:19061983 PMID:24583203 PMID:25402622 PMID:25741868 PMID:26467025 More... NCBI chr 3:152,882,563...152,910,434
Ensembl chr 3:160,933,258...160,961,723
JBrowse link
hereditary spastic paraplegia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C19H19orf12 chromosome 19 C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar
PMID:18414213 PMID:20039086 PMID:21981780 PMID:22584950 PMID:23166001 More... NCBI chr19:26,626,994...26,643,372
Ensembl chr19:35,385,884...35,401,408
JBrowse link
hereditary spastic paraplegia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 44 OMIM
ClinVar
PMID:19056803 PMID:25741868 PMID:27057822 PMID:28492532 NCBI chr 1:203,551,556...203,561,702 JBrowse link
hereditary spastic paraplegia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:99,519,187...99,687,138
Ensembl chr10:102,982,148...103,137,580
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 OMIM
ClinVar
PMID:16199547 PMID:19415352 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513
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: Hereditary spastic paraplegia 46 OMIM
ClinVar
PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 PMID:25741868 More... NCBI chr 9:35,587,876...35,599,971
Ensembl chr 9:36,390,409...36,402,949
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: Cerebral palsy, spastic quadriplegic, 5 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 | ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21440262 PMID:21620353 More... NCBI chr 1:88,652,196...88,662,237
Ensembl chr 1:123,701,343...123,711,481
JBrowse link
G DCLRE1B DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 | ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:88,643,664...88,651,962
Ensembl chr 1:123,692,915...123,701,403
JBrowse link
G SYT6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:28492532 NCBI chr 1:88,397,809...88,467,493
Ensembl chr 1:123,452,889...123,514,795
JBrowse link
hereditary spastic paraplegia 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20613862 PMID:24033266 More... NCBI chr 7:5,027,987...5,044,215
Ensembl chr 7:5,068,846...5,085,087
JBrowse link
hereditary spastic paraplegia 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 ClinVar PMID:28492532 NCBI chr14:83,122,024...83,128,173 JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: Inherited spastic paresis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY OMIM
ClinVar
PMID:23176824 PMID:25590979 PMID:25640679 PMID:25741868 PMID:26431026 More... NCBI chr14:82,984,313...83,120,853
Ensembl chr14:102,814,542...102,932,587
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 OMIM
ClinVar
PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 NCBI chr10:106,597,693...106,727,494
Ensembl chr10:110,123,270...110,178,671
JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 More... NCBI chr 7:92,137,085...92,142,756
Ensembl chr 7:105,570,205...105,575,971
JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
hereditary spastic paraplegia 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 OMIM
ClinVar
PMID:20972249 PMID:21937992 PMID:23472171 PMID:25741868 PMID:28492532 More... NCBI chr15:29,857,818...29,957,158
Ensembl chr15:48,195,581...48,288,895
JBrowse link
G SPPL2A signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr15:29,660,190...29,718,477
Ensembl chr15:47,997,304...48,055,239
JBrowse link
hereditary spastic paraplegia 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4S1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21620353 PMID:23167973 More... NCBI chr14:11,797,778...11,868,127
Ensembl chr14:29,996,877...30,063,239
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: Hereditary spastic paraplegia 53 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22717650 PMID:25741868 More... NCBI chr 8:16,459,660...16,508,333
Ensembl chr 8:13,404,889...13,456,046
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: Hereditary spastic paraplegia 54 OMIM
ClinVar
PMID:9536098 PMID:16636240 PMID:17576681 PMID:23176823 PMID:23486545 More... NCBI chr 8:37,533,579...37,564,864
Ensembl chr 8:34,711,446...34,741,471
JBrowse link
hereditary spastic paraplegia 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 55 OMIM
ClinVar
PMID:3479531 PMID:20598281 PMID:23188110 PMID:24080142 PMID:24198383 More... NCBI chr12:120,831,264...120,856,215
Ensembl chr12:125,064,881...125,089,615
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 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 OMIM
ClinVar
PMID:615030 PMID:23176821 PMID:25558065 PMID:25741868 PMID:26914923 More... NCBI chr 4:100,436,365...100,458,845
Ensembl chr 4:111,009,198...111,031,269
JBrowse link
hereditary spastic paraplegia 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFG trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 57 OMIM
ClinVar
PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 More... NCBI chr 3:97,801,918...97,841,646
Ensembl chr 3:104,482,388...104,521,919
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 chr10:92,216,639...92,267,525
Ensembl chr10:95,723,099...95,774,095
JBrowse link
G C19H19orf12 chromosome 19 C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:21981780 PMID:25741868 PMID:28492532 NCBI chr19:26,626,994...26,643,372
Ensembl chr19:35,385,884...35,401,408
JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chr 4:100,436,365...100,458,845
Ensembl chr 4:111,009,198...111,031,269
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A OMIM
ClinVar
PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 8:61,135,307...61,335,838
Ensembl chr 8:62,806,637...63,006,386
JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 PMID:29453417 NCBI chr 9:35,587,876...35,599,971
Ensembl chr 9:36,390,409...36,402,949
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chr19:6,813,498...6,825,153
Ensembl chr19:7,671,704...7,683,093
JBrowse link
hereditary spastic paraplegia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYFIP1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 Ensembl chr15:20,462,811...20,573,684 JBrowse link
G NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 OMIM
ClinVar
PMID:7825577 PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 More... Ensembl chr15:20,617,547...20,655,686 JBrowse link
G NIPA2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 Ensembl chr15:20,574,757...20,603,745 JBrowse link
G TUBGCP5 tubulin gamma complex associated protein 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 Ensembl chr15:20,403,757...20,444,851 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: Hereditary spastic paraplegia 61 OMIM
ClinVar
PMID:28492532 NCBI chr16:19,478,719...19,488,636 JBrowse link
hereditary spastic paraplegia 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERLIN1 ER lipid raft associated 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 62 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr10:96,756,261...96,791,925
Ensembl chr10:100,238,320...100,273,942
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: Hereditary spastic paraplegia 63 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr 1:111,997,440...112,009,662
Ensembl chr 1:111,225,522...111,237,778
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:28492532 NCBI chr 1:111,980,855...111,990,686
Ensembl chr 1:111,208,510...111,225,808
JBrowse link
hereditary spastic paraplegia 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 64 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr10:92,365,267...92,511,852
Ensembl chr10:95,828,094...95,983,257
JBrowse link
hereditary spastic paraplegia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,842,709...69,907,075
Ensembl chr16:89,467,997...89,523,825
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,994,926...70,242,659
Ensembl chr16:89,633,849...89,683,311
JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,592,293...69,662,321
Ensembl chr16:89,246,545...89,347,435
JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823
JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,419,811...69,428,500
Ensembl chr16:89,079,132...89,088,231
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,557,956...69,571,421
Ensembl chr16:89,183,950...89,217,036
JBrowse link
G LOC100986914 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964
JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,579,421...69,583,803
Ensembl chr16:89,234,156...89,237,595
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,409,777...69,419,761 JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type ClinVar PMID:25326637 PMID:28492532 NCBI chr19:31,974,499...31,984,488
Ensembl chr19:40,711,281...40,724,052
JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,390,929...69,400,971
Ensembl chr16:89,051,479...89,059,704
JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,571,438...69,575,556
Ensembl chr16:89,226,220...89,231,854
JBrowse link
G ZNF778 zinc finger protein 778 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:69,984,952...69,985,889
Ensembl chr16:89,587,595...89,595,023
Ensembl chr16:89,587,595...89,595,023
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: Hereditary spastic paraplegia 72 | ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal dominant OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24388663 PMID:24482476 PMID:25741868 More... NCBI chr 5:133,819,005...133,826,930
Ensembl chr 5:139,949,903...139,959,112
JBrowse link
hereditary spastic paraplegia 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPT1C carnitine palmitoyltransferase 1C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25751282 PMID:28492532 More... NCBI chr19:46,705,711...46,727,996
Ensembl chr19:55,626,831...55,647,394
JBrowse link
hereditary spastic paraplegia 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IBA57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25609768 PMID:25741868 PMID:28492532 More... NCBI chr 1:203,566,902...203,577,857 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: Hereditary spastic paraplegia 75 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26179919 More... NCBI chr19:32,238,457...32,260,497
Ensembl chr19:40,975,763...40,997,401
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 OMIM NCBI chr11:60,545,837...60,576,631
Ensembl chr11:63,886,015...63,916,021
JBrowse link
hereditary spastic paraplegia 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 OMIM
ClinVar
PMID:25741868 PMID:25851414 PMID:26553276 PMID:28492532 PMID:29126765 More... NCBI chr 6:5,096,453...5,608,362
Ensembl chr 6:5,387,291...5,792,749
JBrowse link
hereditary spastic paraplegia 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP13A2 ATPase cation transporting 13A2 ISO OMIM NCBI chr 1:15,929,613...15,955,631
Ensembl chr 1:16,986,385...17,006,033
Ensembl chr 1:16,986,385...17,006,033
JBrowse link
hereditary spastic paraplegia 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome OMIM
ClinVar
PMID:3340629 PMID:4514348 PMID:23359680 PMID:25741868 PMID:28007905 More... NCBI chr 4:35,580,755...35,592,314
Ensembl chr 4:41,428,759...41,440,129
JBrowse link
hereditary spastic paraplegia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351
JBrowse link
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453
JBrowse link
G TBK1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr12:24,419,271...24,469,164
Ensembl chr12:24,917,246...24,968,587
JBrowse link
G WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 OMIM
ClinVar
PMID:9536098 PMID:17160902 PMID:17576681 PMID:20833645 PMID:23455931 More... NCBI chr 8:121,710,118...121,777,977
Ensembl chr 8:124,461,424...124,529,262
JBrowse link
hereditary spastic paraplegia 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBAP1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:25741869 PMID:30929741 PMID:31203368 PMID:31515522 More... NCBI chr 9:34,015,077...34,088,908
Ensembl chr 9:34,825,825...34,898,868
JBrowse link
hereditary spastic paraplegia 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SELENOI selenoprotein I ISO ClinVar Annotator: match by term: Spastic paraplegia 81, autosomal recessive OMIM
ClinVar
PMID:28052917 PMID:29500230 NCBI chr2A:26,344,856...26,393,359
Ensembl chr2A:26,437,503...26,479,093
JBrowse link
hereditary spastic paraplegia 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCYT2 phosphate cytidylyltransferase 2, ethanolamine ISO ClinVar Annotator: match by term: Spastic paraplegia 82, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31637422 NCBI chr17:76,309,798...76,317,054
Ensembl chr17:82,010,262...82,018,515
JBrowse link
hereditary spastic paraplegia 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPDL 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:32707086 PMID:33970200 NCBI chr 1:44,629,560...44,631,394
Ensembl chr 1:45,988,494...45,989,609
JBrowse link
hereditary spastic paraplegia 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Spastic paraplegia 84, autosomal recessive OMIM
ClinVar
PMID:25741868 NCBI chr22:2,931,523...3,082,475 JBrowse link
hereditary spastic paraplegia 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Spastic paraplegia 85, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:31636353 NCBI chr 8:42,097,900...42,145,327
Ensembl chr 8:39,541,479...39,588,163
JBrowse link
hereditary spastic paraplegia 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16A abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:34587489 PMID:34866177 NCBI chr 6:31,348,640...31,364,777
Ensembl chr 6:32,238,872...32,253,856
JBrowse link
hereditary spastic paraplegia 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX OMIM
ClinVar
PMID:8779323 PMID:9536098 PMID:9973297 PMID:16199547 PMID:17576681 More... NCBI chr10:92,216,639...92,267,525
Ensembl chr10:95,723,099...95,774,095
JBrowse link
hereditary spastic paraplegia 9B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia type 9B OMIM
ClinVar
PMID:25741868 PMID:26026163 PMID:26297558 PMID:28492532 NCBI chr10:92,216,639...92,267,525
Ensembl chr10:95,723,099...95,774,095
JBrowse link
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DARS1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: ASPARTYL-tRNA SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity OMIM
ClinVar
PMID:23643384 PMID:25741868 PMID:28492532 NCBI chr2B:23,876,931...23,956,032
Ensembl chr2B:139,977,483...140,056,836
JBrowse link
MASA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr12:7,057,430...7,071,767
Ensembl chr12:6,978,576...6,990,580
JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome OMIM
ClinVar
PMID:1303258 PMID:1870106 PMID:3460961 PMID:7562969 PMID:7881431 More... NCBI chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228
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 OMIM
ClinVar
PMID:6024251 PMID:9536098 PMID:14564668 PMID:17576681 PMID:24451228 More... NCBI chr15:43,902,865...43,929,663
Ensembl chr15:62,187,767...62,213,741
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: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:26467025 PMID:28492532 NCBI chr12:6,582,266...6,592,762
Ensembl chr12:6,499,429...6,509,844
JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia 1 OMIM
ClinVar
PMID:11774073 PMID:22958904 PMID:26467025 PMID:28492532 NCBI chr12:6,592,688...6,601,317
Ensembl chr12:6,509,762...6,518,459
JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C17H17orf107 chromosome 17 C17orf107 homolog ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr17:4,945,885...4,947,235
Ensembl chr17:4,934,173...4,935,528
JBrowse link
G CAMTA2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr17:5,016,065...5,036,216
Ensembl chr17:5,004,607...5,024,238
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr17:4,944,046...4,950,288
Ensembl chr17:4,932,862...4,937,963
JBrowse link
G ENO3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr17:4,997,052...5,005,221
Ensembl chr17:4,986,116...4,992,876
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr17:4,980,083...4,983,219 JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr17:5,036,659...5,046,146
Ensembl chr17:5,024,740...5,034,216
JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia 2 OMIM
ClinVar
PMID:9536098 PMID:17273843 PMID:17576681 PMID:24088041 PMID:24319291 More... NCBI chr17:5,046,488...5,073,220
Ensembl chr17:5,035,014...5,061,957
JBrowse link
G PFN1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr17:4,993,853...4,996,811
Ensembl chr17:4,981,765...4,985,022
JBrowse link
G RNF167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr17:4,988,275...4,993,423
Ensembl chr17:4,975,849...4,981,335
JBrowse link
G SLC25A11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr17:4,985,477...4,988,348
Ensembl chr17:4,973,000...4,975,878
JBrowse link
G SPAG7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr17:5,007,303...5,016,018
Ensembl chr17:4,994,957...5,003,894
JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARS2 methionyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic ataxia 3 OMIM
ClinVar
PMID:22448145 PMID:25741868 NCBI chr2B:84,954,833...84,957,871
Ensembl chr2B:202,847,478...202,849,259
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 PMID:25741868 NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
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 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 More... NCBI chr2A:8,720,780...8,837,136
Ensembl chr2A:8,892,960...8,992,777
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 PMID:25741868 NCBI chr21:18,029,831...18,037,526 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:25741868 PMID:25930971 PMID:26041762 PMID:26138499 PMID:27193218 More... NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
JBrowse link
Troyer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRID2 glutamate ionotropic receptor delta type subunit 2 ISO ClinVar Annotator: match by term: Troyer syndrome ClinVar PMID:24122788 NCBI chr 4:84,663,030...86,170,778
Ensembl chr 4:95,339,460...96,807,748
JBrowse link
G SPART spartin ISO ClinVar Annotator: match by term: Troyer syndrome OMIM
ClinVar
PMID:12134148 PMID:18413476 PMID:20437587 PMID:20504295 PMID:23699601 More... NCBI chr13:17,514,720...17,582,011
Ensembl chr13:35,945,938...35,989,774
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14521
    disease of anatomical entity 14240
      nervous system disease 12077
        central nervous system disease 10586
          paraplegia 254
            Brown-Sequard syndrome 0
            Fryns Macrocephaly 0
            Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 1
            Mental Retardation with Spastic Paraplegia 0
            Optic Atrophy Spastic Paraplegia Syndrome 0
            SPOAN syndrome 0
            Spastic Paraplegia, Ataxia, and Mental Retardation 0
            hereditary spastic paraplegia + 223
Path 2
Term Annotations click to browse term
  disease 14521
    disease of anatomical entity 14240
      nervous system disease 12077
        Neurologic Manifestations 5891
          Paralysis 353
            paraplegia 254
              Brown-Sequard syndrome 0
              Fryns Macrocephaly 0
              Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 1
              Mental Retardation with Spastic Paraplegia 0
              Optic Atrophy Spastic Paraplegia Syndrome 0
              SPOAN syndrome 0
              Spastic Paraplegia, Ataxia, and Mental Retardation 0
              hereditary spastic paraplegia + 223
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