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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: EFO:0009679;   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 ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ABHD16A abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:34587489 NCBI chr 7:23,800,932...23,814,920
Ensembl chr 7:23,800,932...23,814,947 		JBrowse link
G ADAM9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:47,523,768...47,601,722
Ensembl chr15:47,523,771...47,601,710 		JBrowse link
G ADGRA2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,572,953...48,611,034
Ensembl chr15:48,573,197...48,610,668 		JBrowse link
G ADRB3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,468,803...48,478,370
Ensembl chr15:48,475,144...48,479,562 		JBrowse link
G AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:23,015,777...23,035,943
Ensembl chr 5:23,017,176...23,033,517 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO mRNA:decreased expression:soleus RGD PMID:18236467 RGD:5509082
G AP4B1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21440262 More... NCBI chr 4:106,656,632...106,668,252
Ensembl chr 4:106,656,809...106,672,639 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21620353 More... NCBI chr 1:120,880,460...120,946,045
Ensembl chr 1:120,880,456...120,946,031 		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 3:8,013,701...8,017,701
Ensembl chr 3:8,013,747...8,017,700 		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 chr 7:68,420,286...68,475,643
Ensembl chr 7:68,393,285...68,471,722 		JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 3:3,622,684...3,642,370
Ensembl chr 3:3,622,699...3,642,412 		JBrowse link
G APOF apolipoprotein F ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:21,759,670...21,760,753
Ensembl chr 5:21,759,475...21,760,815 		JBrowse link
G AQP3 aquaporin 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:33,045,374...33,050,285
Ensembl chr10:33,045,245...33,051,082 		JBrowse link
G ARF1 ADP ribosylation factor 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 More... NCBI chr 2:51,219,597...51,237,640
Ensembl chr 2:51,219,667...51,237,639 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 NCBI chr 7:67,494,237...67,631,461
Ensembl chr 7:67,494,941...67,594,197 		JBrowse link
G ARHGAP9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,747,346...22,762,179
Ensembl chr 5:22,747,339...22,762,049 		JBrowse link
G ARHGEF25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,873,502...22,880,830
Ensembl chr 5:22,873,736...22,880,827 		JBrowse link
G ARHGEF39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,383,684...236,387,705
Ensembl chr 1:236,383,925...236,387,667 		JBrowse link
G ARID3C AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,171,233...32,187,239
Ensembl chr10:32,172,871...32,180,604 		JBrowse link
G ARPP19 cAMP regulated phosphoprotein 19 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:119,134,318...119,157,169
Ensembl chr 1:119,134,851...119,157,352 		JBrowse link
G ASH2L ASH2 like, histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,386,426...48,417,560
Ensembl chr15:48,386,425...48,417,547 		JBrowse link
G ATG7 autophagy related 7 ISO RGD PMID:23055316 RGD:11557990 NCBI chr13:67,301,756...67,699,141
Ensembl chr13:67,417,938...67,707,654 		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 chr 1:180,299,434...180,407,003
Ensembl chr 1:180,299,256...180,405,837 		JBrowse link
G ATOSA atos homolog A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:118,993,862...119,124,472
Ensembl chr 1:119,020,990...119,124,464 		JBrowse link
G ATOSB atos homolog B ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:235,895,613...235,907,142
Ensembl chr 1:235,895,621...235,907,113 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:21,984,750...21,992,393
Ensembl chr 5:21,984,580...21,992,407 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		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 chr 5:22,889,654...22,897,386
Ensembl chr 5:22,889,656...22,897,508 		JBrowse link
G BAG4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,299,456...48,348,810
Ensembl chr15:48,299,666...48,348,527 		JBrowse link
G BAZ2A bromodomain adjacent to zinc finger domain 2A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:21,932,527...21,983,033
Ensembl chr 5:21,936,260...21,983,032 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G BCAR1 BCAR1 scaffold protein, Cas family member ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 6:12,369,332...12,404,822
Ensembl chr 6:12,367,758...12,404,818 		JBrowse link
G BCL2L10 BCL2 like 10 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:119,594,004...119,607,709 JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:soleus muscle RGD PMID:23055316 RGD:11557990 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		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 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782 		JBrowse link
G BIRC6 baculoviral IAP repeat containing 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 3:107,012,967...107,269,370
Ensembl chr 3:107,012,986...107,269,477 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082 		JBrowse link
G BRF2 BRF2 RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,568,207...48,573,036
Ensembl chr15:48,568,202...48,573,029 		JBrowse link
G C2H1orf35 chromosome 2 C1orf35 homolog ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 More... NCBI chr 2:51,238,918...51,241,344
Ensembl chr 2:51,239,018...51,241,337 		JBrowse link
G CA9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822 		JBrowse link
G CCDC107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666 		JBrowse link
G CCIN calicin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,947,871...236,950,447
Ensembl chr 1:236,948,636...236,950,402 		JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734 		JBrowse link
G CCL21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,093,783...32,094,482
Ensembl chr10:32,093,763...32,096,224 		JBrowse link
G CCL27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,138,232...32,138,980
Ensembl chr10:32,138,232...32,138,974 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G CD72 CD72 molecule ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,345,894...236,355,755
Ensembl chr 1:236,345,903...236,355,702 		JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061 		JBrowse link
G CFDP1 craniofacial development protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 6:12,223,701...12,354,180
Ensembl chr 6:12,223,748...12,354,177 		JBrowse link
G CIMIP2B ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,322,893...236,325,008
Ensembl chr 1:236,322,897...236,324,981 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
G CLTA clathrin light chain A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,971,317...236,993,291
Ensembl chr 1:236,971,505...237,001,731 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999 		JBrowse link
G CNTFR ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,211,809...32,251,412
Ensembl chr10:32,211,777...32,251,503 		JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077 		JBrowse link
G CPT1C carnitine palmitoyltransferase 1C ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 NCBI chr 6:54,732,701...54,747,706
Ensembl chr 6:54,731,557...54,749,248 		JBrowse link
G CREB3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,450,573...236,456,381
Ensembl chr 1:236,450,573...236,456,375 		JBrowse link
G CTRB2 chymotrypsinogen B2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 6:12,420,976...12,426,331 JBrowse link
G CYP19A3 cytochrome P450 19A3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470 		JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:615030 PMID:14660610 PMID:16199547 PMID:16783378 PMID:20301718 More... NCBI chr 8:114,016,915...114,035,905
Ensembl chr 8:114,011,304...114,035,357 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:1943942 PMID:7987300 PMID:9536098 PMID:9802883 PMID:12874406 More... NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,049...69,806,496 		JBrowse link
G DCAF12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,673,982...32,714,940
Ensembl chr10:32,674,045...32,714,940 		JBrowse link
G DCTN2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,799,286...22,814,358
Ensembl chr 5:22,799,287...22,814,362 		JBrowse link
G DCTN3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,180,557...32,187,239
Ensembl chr10:32,180,613...32,188,059 		JBrowse link
G DDHD2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,239,932...48,292,413
Ensembl chr15:48,252,338...48,292,181 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G DMXL2 Dmx like 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:120,138,249...120,298,603
Ensembl chr 1:120,138,336...120,298,586 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,275,173...32,355,444
Ensembl chr10:32,275,175...32,355,399 		JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:235,790,657...235,799,385
Ensembl chr 1:235,790,749...235,799,381 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 3:107,520,641...107,533,504
Ensembl chr 3:107,520,642...107,533,496 		JBrowse link
G DTD2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 NCBI chr 7:68,105,268...68,118,220
Ensembl chr 7:68,106,224...68,116,986 		JBrowse link
G DTX3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,867,691...22,873,413
Ensembl chr 5:22,867,711...22,873,393 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212 		JBrowse link
G EEF1AKMT3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:23,063,114...23,087,009
Ensembl chr 5:23,063,109...23,072,849 		JBrowse link
G EGR2 early growth response 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr14:66,280,665...66,291,308
Ensembl chr14:66,284,581...66,291,299 		JBrowse link
G EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,423,001...48,443,373
Ensembl chr15:48,422,816...48,443,399 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G ENHO energy homeostasis associated ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,273,136...32,275,177
Ensembl chr10:32,273,086...32,275,114 		JBrowse link
G ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21330303 More... NCBI chr15:48,643,722...48,662,648
Ensembl chr15:48,643,724...48,662,536 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,280,978...125,282,771 JBrowse link
G FA2H fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20104589 More... NCBI chr 6:12,855,330...12,910,821
Ensembl chr 6:12,855,421...12,910,818 		JBrowse link
G FAM219A family with sequence similarity 219 member A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,355,628...32,422,412
Ensembl chr10:32,355,647...32,420,092 		JBrowse link
G FAM221B family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,538,172...236,551,064
Ensembl chr 1:236,539,262...236,547,959 		JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FOXO4 forkhead box O4 ISO protein:increased expression:skeletal muscle: RGD PMID:18236467 RGD:5509082 NCBI chr  X:57,132,549...57,140,377
Ensembl chr  X:57,132,548...57,140,356 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610 		JBrowse link
G G2E3 G2/M-phase specific E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 NCBI chr 7:68,854,410...68,917,070
Ensembl chr 7:68,852,777...68,916,992 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,151,150...32,154,792
Ensembl chr10:32,151,177...32,154,740 		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 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:8733901 PMID:9536098 PMID:15192806 PMID:17576681 PMID:18094336 More... NCBI chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,962 		JBrowse link
G GLDN gliomedin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:120,322,417...120,399,059
Ensembl chr 1:120,322,432...120,399,041 		JBrowse link
G GLG1 golgi glycoprotein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 6:13,011,829...13,165,487
Ensembl chr 6:13,011,837...13,165,496 		JBrowse link
G GLI1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,736,325...22,747,421
Ensembl chr 5:22,739,900...22,747,421 		JBrowse link
G GLIPR2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,919,821...236,943,828
Ensembl chr 1:236,919,879...236,943,823 		JBrowse link
G GLS2 glutaminase 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:21,806,405...21,820,001
Ensembl chr 5:21,806,406...21,820,001 		JBrowse link
G GNB5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:119,545,382...119,589,860
Ensembl chr 1:119,537,551...119,589,865 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		JBrowse link
G GOT1L1 glutamic-oxaloacetic transaminase 1 like 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,500,156...48,506,992
Ensembl chr15:48,499,964...48,507,010 		JBrowse link
G GPR182 G protein-coupled receptor 182 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,303,466...22,309,652
Ensembl chr 5:22,304,588...22,311,028 		JBrowse link
G GPR33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 NCBI chr 7:68,084,248...68,088,895
Ensembl chr 7:68,084,248...68,088,895 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:238,139,764...238,151,631
Ensembl chr 1:238,139,794...238,152,382 		JBrowse link
G GUK1 guanylate kinase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 More... NCBI chr 2:51,247,665...51,257,481
Ensembl chr 2:51,241,952...51,257,485 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,277,575...125,280,752 JBrowse link
G H2AB2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,537,401...125,540,026 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G HEATR5A HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 NCBI chr 7:68,143,597...68,259,087
Ensembl chr 7:68,211,624...68,259,794 		JBrowse link
G HECTD1 HECT domain E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 NCBI chr 7:68,318,167...68,422,403
Ensembl chr 7:68,318,417...68,422,394 		JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,532,316...236,535,263 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 PMID:35985664 NCBI chr 6:166,012,590...166,015,051
Ensembl chr 6:166,012,601...166,014,323 		JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,670,418...236,671,435
Ensembl chr 1:236,670,604...236,670,948 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,548...46,220,883 		JBrowse link
G HSD17B6 hydroxysteroid 17-beta dehydrogenase 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,089,496...22,114,319
Ensembl chr 5:22,092,578...22,273,382 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:17072495 PMID:17420924 PMID:17576681 PMID:18414213 More... NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526 		JBrowse link
G HTRA4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:47,610,580...47,625,889 JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 More... NCBI chr 2:51,276,352...51,287,572
Ensembl chr 2:51,276,335...51,293,544 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,138,984...32,149,315
Ensembl chr10:32,139,063...32,146,138 		JBrowse link
G IL23A interleukin 23 subunit alpha ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267 		JBrowse link
G INHBC inhibin subunit beta C ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,718,416...22,728,766
Ensembl chr 5:22,718,491...22,730,087 		JBrowse link
G INHBE inhibin subunit beta E ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,732,774...22,734,716
Ensembl chr 5:22,732,516...22,734,083 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr  X:46,011,386...46,094,978
Ensembl chr  X:46,011,388...46,094,817 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G IRF2BPL interferon regulatory factor 2 binding protein like ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 NCBI chr 7:100,119,282...100,123,820
Ensembl chr 7:100,120,139...100,122,489 		JBrowse link
G KDM5C lysine demethylase 5C ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:15586325 PMID:16199547 PMID:16541399 PMID:17576681 More... NCBI chr  X:45,968,812...46,003,215
Ensembl chr  X:45,968,814...46,003,215 		JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21820098 PMID:24088041 More... NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826 		JBrowse link
G KIF24 kinesin family member 24 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,454,615...32,552,763
Ensembl chr10:32,467,072...32,552,375 		JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:15452312 PMID:16199547 PMID:16476820 PMID:16489470 More... NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973 		JBrowse link
G 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:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,269 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LDHD lactate dehydrogenase D ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 6:12,548,098...12,552,237
Ensembl chr 6:12,548,132...12,555,648 		JBrowse link
G LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:119,804,992...119,842,343
Ensembl chr 1:119,805,006...119,859,434 		JBrowse link
G LETM2 leucine zipper and EF-hand containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,110,645...48,132,429
Ensembl chr15:48,110,652...48,131,991 		JBrowse link
G LOC100157239 olfactory receptor 13J1-like ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,595,655...236,597,257 JBrowse link
G LOC100512656 retinol dehydrogenase 16 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,277,006...22,285,534
Ensembl chr 5:22,228,057...22,292,434 		JBrowse link
G LOC100519461 olfactory receptor 2S2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,709,468...236,712,100
Ensembl chr 1:236,709,673...236,710,632 		JBrowse link
G LOC102166335 EKC/KEOPS complex subunit LAGE3-like ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:125,150,593...125,152,014 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,816,014...124,828,225 JBrowse link
G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,435,636...22,519,276 JBrowse link
G LSM1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,348,653...48,360,004
Ensembl chr15:48,348,648...48,365,106 		JBrowse link
G LYSMD2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:120,009,417...120,043,146
Ensembl chr 1:120,026,532...120,043,127 		JBrowse link
G MAPK6 mitogen-activated protein kinase 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:119,725,026...119,770,988
Ensembl chr 1:119,725,029...119,771,312 		JBrowse link
G MARCHF9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:23,046,471...23,051,046
Ensembl chr 5:23,045,936...23,052,094 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,752,405...22,785,509
Ensembl chr 5:22,752,374...22,785,501 		JBrowse link
G MBD6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,790,220...22,799,131
Ensembl chr 5:22,791,437...22,799,126 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MELK maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:237,317,161...237,431,522
Ensembl chr 1:237,317,191...237,431,589 		JBrowse link
G METTL1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:23,059,001...23,063,025
Ensembl chr 5:23,058,982...23,062,991 		JBrowse link
G MIP major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:21,789,040...21,804,964
Ensembl chr 5:21,787,826...21,793,592 		JBrowse link
G MIPEP mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr11:2,675,604...2,790,760
Ensembl chr11:2,670,000...2,790,727 		JBrowse link
G MLKL mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 6:12,923,846...12,951,176
Ensembl chr 6:12,924,894...12,951,173 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G MRPL55 mitochondrial ribosomal protein L55 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 More... NCBI chr 2:51,243,257...51,247,626
Ensembl chr 2:51,243,294...51,247,594 		JBrowse link
G MSMP microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,472,652...236,473,664
Ensembl chr 1:236,472,424...236,473,862 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178 		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:122,286,904...122,379,302
Ensembl chr  X:122,286,916...122,379,299 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 More... NCBI chr14:29,644,945...29,658,906
Ensembl chr14:29,645,603...29,658,899 		JBrowse link
G MYO1A myosin IA ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,338,024...22,363,528
Ensembl chr 5:22,338,029...22,363,568 		JBrowse link
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:119,165,751...119,398,591
Ensembl chr 1:119,165,942...119,394,725 		JBrowse link
G MYO5C myosin VC ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:119,407,298...119,536,443
Ensembl chr 1:119,407,351...119,536,419 		JBrowse link
G MYORG myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,436,349...32,443,971
Ensembl chr10:32,436,656...32,443,968 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G NAB2 NGFI-A binding protein 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,400,275...22,406,424
Ensembl chr 5:22,400,277...22,406,419 		JBrowse link
G NACA nascent polypeptide associated complex subunit alpha ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,044,569...22,058,096 JBrowse link
G NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,540,482...22,548,418
Ensembl chr 5:22,535,740...22,548,882 		JBrowse link
G NEMP1 nuclear envelope integral membrane protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,366,535...22,390,097
Ensembl chr 5:22,366,539...22,390,102 		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... NCBI chr15:32,208,857...32,260,064
Ensembl chr15:32,208,860...32,260,006 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:32581362 NCBI chr 3:107,358,117...107,389,557 JBrowse link
G NOL6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:33,022,035...33,035,201
Ensembl chr10:33,022,035...33,035,200 		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 chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146 		JBrowse link
G NPR2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,508,994...236,529,172
Ensembl chr 1:236,508,998...236,529,128 		JBrowse link
G NSD3 nuclear receptor binding SET domain protein 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,119,132...48,245,673
Ensembl chr15:48,136,363...48,241,815 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 NCBI chr 7:67,785,652...68,028,561
Ensembl chr 7:67,784,639...68,028,552 		JBrowse link
G NUDT2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,450,986...32,466,893
Ensembl chr10:32,451,064...32,466,839 		JBrowse link
G NXPH4 neurexophilin 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,522,932...22,536,614
Ensembl chr 5:22,522,952...22,531,660 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 More... NCBI chr 2:51,317,538...51,534,246
Ensembl chr 2:51,285,488...51,534,236 		JBrowse link
G ONECUT1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:118,913,400...118,958,140
Ensembl chr 1:118,913,460...118,917,334 		JBrowse link
G OS9 OS9 endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,957,903...23,004,464
Ensembl chr 5:22,957,875...23,004,458 		JBrowse link
G PAN2 poly(A) specific ribonuclease subunit PAN2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:21,712,222...21,730,528
Ensembl chr 5:21,712,261...21,727,903 		JBrowse link
G PAX5 paired box 5 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:237,574,938...237,785,454
Ensembl chr 1:237,575,061...237,785,413 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G PHF24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:235,757,499...235,783,053
Ensembl chr 1:235,757,797...235,783,051 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:235,880,088...235,888,338
Ensembl chr 1:235,878,355...235,887,993 		JBrowse link
G PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,854,142...22,867,032
Ensembl chr 5:22,854,316...22,867,028 		JBrowse link
G PLEKHA2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:47,626,107...47,697,238
Ensembl chr15:47,626,110...47,697,603 		JBrowse link
G PLPBP pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,624,790...48,636,584
Ensembl chr15:48,624,837...48,636,589 		JBrowse link
G PLPP5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,246,054...48,251,839
Ensembl chr15:48,246,029...48,252,196 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261 		JBrowse link
G PNMA5 PNMA family member 5 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,998,935...124,001,201
Ensembl chr  X:123,999,037...124,000,974 		JBrowse link
G PRIM1 DNA primase subunit 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,064,248...22,089,441
Ensembl chr 5:22,062,989...22,089,436 		JBrowse link
G PRKD1 protein kinase D1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 NCBI chr 7:69,527,743...69,872,374
Ensembl chr 7:69,527,811...69,872,863 		JBrowse link
G PTGES3 prostaglandin E synthase 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,000,335...22,022,830
Ensembl chr 5:22,000,341...22,021,660 		JBrowse link
G R3HDM2 R3H domain containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,558,645...22,714,250
Ensembl chr 5:22,549,010...22,719,054 		JBrowse link
G RAB11FIP1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,527,379...48,561,408 JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G RBMS2 RNA binding motif single stranded interacting protein 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:21,819,852...21,933,529
Ensembl chr 5:21,819,862...21,932,600 		JBrowse link
G RDH11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18394578 PMID:19805727 PMID:28492532 NCBI chr 7:91,415,041...91,452,530
Ensembl chr 7:91,415,042...91,452,405 		JBrowse link
G RDH12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18394578 PMID:19805727 PMID:28492532 NCBI chr 7:91,481,238...91,493,838
Ensembl chr 7:91,481,272...91,493,809 		JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,821,243...236,898,280
Ensembl chr 1:236,821,414...236,898,276 		JBrowse link
G REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:16199547 PMID:16826527 PMID:18321925 PMID:18644145 PMID:20718791 More... NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,436,324...58,558,934 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 6:12,952,243...12,994,053
Ensembl chr 6:12,952,253...12,994,052 		JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,468,115...236,478,347
Ensembl chr 1:236,468,320...236,477,683 		JBrowse link
G RIBC1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr  X:46,202,213...46,218,691
Ensembl chr  X:46,208,669...46,218,382 		JBrowse link
G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:31636353 NCBI chr17:11,777,942...11,817,920
Ensembl chr17:11,780,129...11,816,049 		JBrowse link
G RNF38 ring finger protein 38 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:237,111,002...237,240,311
Ensembl chr 1:237,111,012...237,235,485 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G RPP25L ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,189,182...32,191,429
Ensembl chr10:32,189,204...32,191,426 		JBrowse link
G RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22232211 PMID:24123792 More... NCBI chr 6:51,855,844...51,864,753
Ensembl chr 6:51,854,998...51,875,169 		JBrowse link
G RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,265,915...236,322,958
Ensembl chr 1:236,299,344...236,322,953 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:8472930 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 More... NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316 		JBrowse link
G SCFD1 sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 NCBI chr 7:68,694,579...68,851,055
Ensembl chr 7:68,712,773...68,851,008 		JBrowse link
G SCG3 secretogranin III ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:120,045,302...120,090,035
Ensembl chr 1:120,045,309...120,138,260 		JBrowse link
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,228,041...22,251,622
Ensembl chr 5:22,228,042...22,244,528 		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 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747 		JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15156359 PMID:18285821 PMID:18398442 PMID:18465152 PMID:19031088 More... NCBI chr11:2,310,280...2,380,054 JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,535,780...22,540,322
Ensembl chr 5:22,532,894...22,540,319 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,160,767...32,163,540
Ensembl chr10:32,160,822...32,164,718 		JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,371,708...236,373,414
Ensembl chr 1:236,371,699...236,373,419 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:15488219 PMID:15889350 PMID:15980113 PMID:16199547 More... NCBI chr  X:59,748,685...59,861,018
Ensembl chr  X:59,748,745...59,861,015 		JBrowse link
G SLC19A3 solute carrier family 19 member 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 NCBI chr15:129,071,563...129,096,338
Ensembl chr15:129,071,582...129,096,282 		JBrowse link
G SLC30A6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:32581362 NCBI chr 3:107,387,875...107,426,330
Ensembl chr 3:107,387,860...107,426,337 		JBrowse link
G SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:22243965 PMID:24215330 PMID:24583203 PMID:25741868 PMID:26467025 More... NCBI chr13:95,690,453...95,724,239
Ensembl chr13:95,658,530...95,724,156 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr  X:46,143,738...46,202,187
Ensembl chr  X:46,144,920...46,218,543 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938 		JBrowse link
G SPAG8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,526,659...236,532,181
Ensembl chr 1:236,529,269...236,534,734 		JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:16055926 PMID:16199547 PMID:16240363 PMID:17100993 PMID:20718791 More... NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926 		JBrowse link
G SPATA31F3 SPATA31 subfamily F member 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:235,677,529...235,687,421 JBrowse link
G SPATA31G1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:235,844,826...235,849,556
Ensembl chr 1:235,842,554...235,848,767 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:19105190 PMID:20110243 PMID:20301389 PMID:21381113 PMID:22154821 More... NCBI chr 1:126,890,464...126,998,014
Ensembl chr 1:126,902,186...127,003,397
Ensembl chr 1:126,902,186...127,003,397 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212 		JBrowse link
G SPMIP6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,419,965...32,435,622
Ensembl chr10:32,419,795...32,435,884 		JBrowse link
G SPPL2A signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:121,067,638...121,134,896
Ensembl chr 1:121,067,454...121,134,888 		JBrowse link
G SPRYD4 SPRY domain containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:21,804,345...21,816,760
Ensembl chr 5:21,804,394...21,816,681 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,549,008...22,556,330
Ensembl chr 5:22,549,010...22,719,054 		JBrowse link
G STAR steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462 		JBrowse link
G STAT2 signal transducer and activator of transcription 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:21,733,030...21,748,960
Ensembl chr 5:21,733,035...21,751,354 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,406,356...22,422,412
Ensembl chr 5:22,406,368...22,421,989 		JBrowse link
G STOML2 stomatin like 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:235,891,479...235,894,944
Ensembl chr 1:235,890,679...235,894,737 		JBrowse link
G STRN3 striatin 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 NCBI chr 7:68,470,761...68,577,272
Ensembl chr 7:68,470,877...68,577,273 		JBrowse link
G TAC3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,324,927...22,336,464
Ensembl chr 5:22,324,932...22,332,916 		JBrowse link
G TACC1 transforming acidic coiled-coil containing protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:47,749,079...47,861,200 JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		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:25741868 More... NCBI chr 5:64,188,184...64,197,033
Ensembl chr 5:64,188,179...64,197,264 		JBrowse link
G TESK1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,341,160...236,345,964
Ensembl chr 1:236,341,261...236,345,962 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,416,041...236,450,978
Ensembl chr 1:236,416,044...236,450,922 		JBrowse link
G TM2D2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:47,601,940...47,611,802
Ensembl chr15:47,601,616...47,611,804 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TMEM8B transmembrane protein 8B ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,550,759...236,583,635
Ensembl chr 1:236,551,434...236,584,376 		JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,601,920...125,673,716
Ensembl chr  X:125,598,116...125,673,669 		JBrowse link
G TMOD2 tropomodulin 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:119,956,583...120,009,372
Ensembl chr 1:119,956,588...120,009,372 		JBrowse link
G TMOD3 tropomodulin 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:119,864,878...119,948,795
Ensembl chr 1:119,862,244...119,948,880 		JBrowse link
G TNFAIP8L3 TNF alpha induced protein 8 like 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:120,807,533...120,849,830
Ensembl chr 1:120,807,392...120,849,826 		JBrowse link
G TNFRSF19 TNF receptor superfamily member 19 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr11:2,469,306...2,640,737
Ensembl chr11:2,543,812...2,640,736 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:23,073,087...23,087,029
Ensembl chr 5:23,072,808...23,097,915 		JBrowse link
G TSPAN31 tetraspanin 31 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:23,029,325...23,038,987
Ensembl chr 5:23,029,306...23,038,977 		JBrowse link
G TTC27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 3:106,822,203...106,999,125
Ensembl chr 3:106,821,423...106,999,102 		JBrowse link
G UBAP1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,552,243...32,626,100
Ensembl chr10:32,552,245...32,626,083 		JBrowse link
G UBAP2 ubiquitin associated protein 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,755,707...32,897,260
Ensembl chr10:32,756,040...32,892,867 		JBrowse link
G UBE2R2 ubiquitin conjugating enzyme E2 R2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr10:32,894,424...33,014,473
Ensembl chr10:32,894,432...33,014,473 		JBrowse link
G UBL4A ubiquitin like 4A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G UNC13B unc-13 homolog B ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:235,918,751...236,158,098
Ensembl chr 1:235,918,747...236,158,098 		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:25741868 More... NCBI chr 5:64,181,496...64,188,275 JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15034582 PMID:18845250 PMID:20604808 PMID:22270372 PMID:22909335 More... NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		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 4:14,598,133...14,667,535
Ensembl chr 4:14,598,150...14,668,313 		JBrowse link
G WDR59 WD repeat domain 59 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 6:12,682,166...12,769,339
Ensembl chr 6:12,682,184...12,768,728 		JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286 		JBrowse link
G WNT3A Wnt family member 3A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 More... NCBI chr 2:51,153,978...51,203,678
Ensembl chr 2:51,153,970...51,202,176 		JBrowse link
G YIPF4 Yip1 domain family member 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 3:107,299,597...107,340,029
Ensembl chr 3:107,304,385...107,340,012 		JBrowse link
G ZBTB39 zinc finger and BTB domain containing 39 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:22,308,630...22,316,317
Ensembl chr 5:22,312,521...22,314,655 		JBrowse link
G ZCCHC7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 1:237,820,675...238,068,505
Ensembl chr 1:237,820,363...238,068,305 		JBrowse link
G ZFP1 ZFP1 zinc finger protein ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 6:12,480,298...12,549,476
Ensembl chr 6:12,480,278...12,531,530 		JBrowse link
G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,215,906...124,227,853
Ensembl chr  X:124,216,324...124,224,778 		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 chr 7:91,518,444...91,590,480
Ensembl chr 7:91,518,452...91,590,449 		JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:16826525 PMID:17576681 PMID:18606302 More... NCBI chr14:109,088,758...109,119,854
Ensembl chr14:109,088,810...109,113,011 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,942,981...123,988,102
Ensembl chr  X:123,944,210...123,987,962 		JBrowse link
G ZNF275 zinc finger protein 275 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,156,708...124,173,566 JBrowse link
G ZNRF1 zinc and ring finger 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 6:12,555,655...12,668,807 JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,270 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Costeff optic atrophy syndrome ClinVar PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome OMIM
ClinVar		 PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 6:51,917,956...51,967,624
Ensembl chr 6:51,917,379...51,964,488 		JBrowse link
early-onset dystonia and/or spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5MC3 ATP synthase membrane subunit c locus 3 ISO ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia OMIM
ClinVar		 PMID:19006192 PMID:34636445 PMID:34954817 NCBI chr15:81,091,037...81,094,297
Ensembl chr15:81,083,960...81,094,289 		JBrowse link
Fitzsimmons-McLachlan-Gilbert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS ClinVar PMID:21686261 PMID:25649377 PMID:25741868 PMID:26793055 PMID:27665735 More... NCBI chr  X:46,011,386...46,094,978
Ensembl chr  X:46,011,388...46,094,817 		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 chr15:105,328,717...105,401,152
Ensembl chr15:105,328,719...105,401,093 		JBrowse link
G MPP4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr15:105,277,295...105,319,936
Ensembl chr15:105,277,073...105,323,578 		JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr15:105,255,485...105,276,624
Ensembl chr15:105,252,479...105,276,970 		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 7:23,800,932...23,814,920
Ensembl chr 7:23,800,932...23,814,947 		JBrowse link
G ADAM28 ADAM metallopeptidase domain 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr14:8,375,169...8,438,622
Ensembl chr14:8,375,212...8,438,615 		JBrowse link
G ADGRB2 adhesion G protein-coupled receptor B2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 6:88,256,144...88,293,519
Ensembl chr 6:88,256,146...88,293,330 		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 chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:14676054 PMID:17576681 PMID:18852346 PMID:20077034 More... NCBI chr15:105,328,717...105,401,152
Ensembl chr15:105,328,719...105,401,093 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 NCBI chr 4:110,493,490...110,505,123
Ensembl chr 4:110,493,492...110,505,138 		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 4:106,656,632...106,668,252
Ensembl chr 4:106,656,809...106,672,639 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:26350204 PMID:26544806 PMID:28492532 NCBI chr 1:120,880,460...120,946,045
Ensembl chr 1:120,880,456...120,946,031 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:24700674 More... NCBI chr 3:8,013,701...8,017,701
Ensembl chr 3:8,013,747...8,017,700 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:26350204 PMID:28492532 NCBI chr 7:68,420,286...68,475,643
Ensembl chr 7:68,393,285...68,471,722 		JBrowse link
G AP5B1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28832565 NCBI chr 2:6,538,784...6,551,337
Ensembl chr 2:6,547,998...6,553,761 		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: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:9536098 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24833714 More... NCBI chr 3:3,622,684...3,642,370
Ensembl chr 3:3,622,699...3,642,412 		JBrowse link
G ARHGAP9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28832565 NCBI chr 5:22,747,346...22,762,179
Ensembl chr 5:22,747,339...22,762,049 		JBrowse link
G ARMC9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr15:131,928,642...132,101,348
Ensembl chr15:131,928,719...132,101,343 		JBrowse link
G ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:15596607 More... NCBI chr 1:180,299,434...180,407,003
Ensembl chr 1:180,299,256...180,405,837 		JBrowse link
G B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr15:132,127,386...132,131,912
Ensembl chr15:132,127,396...132,131,916 		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 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782 		JBrowse link
G BORCS7 BLOC-1 related complex subunit 7 ISO MouseDO NCBI chr14:113,809,368...113,848,555
Ensembl chr14:113,831,363...113,844,301 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 More... NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886 		JBrowse link
G C6H19orf12 chromosome 6 C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21981780 PMID:23269600 PMID:24361204 PMID:25558065 PMID:25741868 More... NCBI chr 6:39,813,644...39,825,069
Ensembl chr 6:39,813,665...39,825,000 		JBrowse link
G CCT5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr16:72,211,452...72,223,202
Ensembl chr16:72,208,012...72,223,114 		JBrowse link
G CEP63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr13:75,605,622...75,707,087
Ensembl chr13:75,605,675...75,707,102 		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 chr14:113,888,970...114,060,369
Ensembl chr14:113,889,950...114,053,352 		JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:14660610 PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 More... NCBI chr 8:114,016,915...114,035,905
Ensembl chr 8:114,011,304...114,035,357 		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:9536098 PMID:9802883 More... NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,049...69,806,496 		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 4:106,646,591...106,656,490
Ensembl chr 4:106,646,011...106,656,452 		JBrowse link
G DDHD1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:23176821 PMID:24989667 PMID:25741868 PMID:26637979 PMID:26944165 More... NCBI chr 1:182,667,102...182,754,526
Ensembl chr 1:182,667,428...182,754,207 		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 chr15:48,239,932...48,292,413
Ensembl chr15:48,252,338...48,292,181 		JBrowse link
G DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 6:74,732,130...74,771,404
Ensembl chr 6:74,732,169...74,774,311 		JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar NCBI chr 1:126,998,613...127,019,264
Ensembl chr 1:126,997,227...127,019,147 		JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:107,263,546...107,390,923
Ensembl chr14:107,263,449...107,389,010 		JBrowse link
G ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:28832565 PMID:29528531 More... NCBI chr15:48,643,722...48,662,648
Ensembl chr15:48,643,724...48,662,536 		JBrowse link
G FA2H fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:18414213 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25356970 More... NCBI chr 6:12,855,330...12,910,821
Ensembl chr 6:12,855,421...12,910,818 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 2:7,971,782...8,052,572
Ensembl chr 2:7,976,567...7,991,150 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,812 		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 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210 		JBrowse link
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18094336 PMID:20442743 PMID:21959080 PMID:22351697 PMID:22833003 More... NCBI chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,962 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 susceptibility ISO DNA:missense mutation: :p.V72I
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 RGD
ClinVar		 PMID:11898127 PMID:17072495 PMID:18414213 PMID:19423133 PMID:19494379 More... RGD:1624200 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526 		JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495 		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 Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 ClinVar PMID:9536098 PMID:17576681 PMID:21376300 PMID:22258533 PMID:25265257 More... NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826 		JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26633545 More... NCBI chr12:51,899,762...51,924,465
Ensembl chr12:51,897,494...51,924,432 		JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:15452312 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 More... NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973 		JBrowse link
G KY kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr13:75,726,031...75,774,981
Ensembl chr13:75,726,041...75,774,986 		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:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,269 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 1:180,020,862...180,069,168
Ensembl chr 1:180,020,863...180,069,146 		JBrowse link
G MACROD1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 2:7,939,125...8,087,656
Ensembl chr 2:7,939,125...8,088,595 		JBrowse link
G MAG myelin associated glycoprotein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 PMID:31402626 PMID:32629324 More... NCBI chr 6:44,794,197...44,809,933
Ensembl chr 6:44,794,204...44,809,926 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28832565 NCBI chr 5:22,752,405...22,785,509
Ensembl chr 5:22,752,374...22,785,501 		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 chr 2:71,602,888...71,613,331
Ensembl chr 2:71,602,770...71,613,312 		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 chr12:14,612,177...14,637,946
Ensembl chr12:14,612,183...14,636,811 		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 chr14:29,644,945...29,658,906
Ensembl chr14:29,645,603...29,658,899 		JBrowse link
G MYT1 myelin transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr17:62,955,052...63,020,652
Ensembl chr17:62,979,350...63,014,696 		JBrowse link
G NCL nucleolin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr15:132,163,453...132,174,214
Ensembl chr15:132,162,516...132,174,172 		JBrowse link
G NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 More... NCBI chr15:32,208,857...32,260,064
Ensembl chr15:32,208,860...32,260,006 		JBrowse link
G NMUR1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr15:132,217,236...132,228,645
Ensembl chr15:132,217,223...132,228,645 		JBrowse link
G NPR3 natriuretic peptide receptor 3 ISO ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:28492532 NCBI chr16:18,841,540...18,929,813
Ensembl chr16:18,842,039...18,929,805 		JBrowse link
G NRG1 neuregulin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,459...114,145,109 		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 chr15:100,733,552...100,820,603
Ensembl chr15:100,733,560...100,820,585 		JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838 		JBrowse link
G PLP1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10319897 PMID:15712223 PMID:24019930 PMID:25741868 PMID:26125040 More... NCBI chr  X:84,676,627...84,683,517
Ensembl chr  X:84,666,733...84,685,058 		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 chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia		 ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		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 chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,570 		JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 NCBI chr  X:42,976,086...42,981,732
Ensembl chr  X:42,975,413...42,981,724 		JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10319897 PMID:15712223 PMID:24019930 PMID:25741868 PMID:26125040 More... NCBI chr  X:84,721,269...84,733,000
Ensembl chr  X:84,721,274...84,732,990 		JBrowse link
G REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:16199547 PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 More... NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,436,324...58,558,934 		JBrowse link
G RETREG1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr16:5,726,493...5,879,461
Ensembl chr16:5,726,494...5,879,714 		JBrowse link
G RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:51,855,844...51,864,753
Ensembl chr 6:51,854,998...51,875,169 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia		 ClinVar PMID:8472930 PMID:10610707 PMID:10655055 PMID:11788093 PMID:14718706 More... NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:9536098 PMID:17096168 PMID:17159128 PMID:17576681 PMID:18058631 More... NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:20301789 PMID:23568789 PMID:24265446 PMID:24721225 More... NCBI chr  X:59,748,685...59,861,018
Ensembl chr  X:59,748,745...59,861,015 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,438...52,661,459 		JBrowse link
G SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:24215330 PMID:24583203 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr13:95,690,453...95,724,239
Ensembl chr13:95,658,530...95,724,156 		JBrowse link
G SORL1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Complex hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 9:48,435,350...48,653,670
Ensembl chr 9:48,435,345...48,653,655 		JBrowse link
G SPART spartin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:12,313,211...12,346,226
Ensembl chr11:12,313,335...12,346,204 		JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
ClinVar Annotator: match by term: Autosomal dominant hereditary spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia		 ClinVar PMID:9536098 PMID:10610178 PMID:10699187 PMID:11015453 PMID:11039577 More... NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Complex hereditary spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 ClinVar PMID:9536098 PMID:16199547 PMID:16773502 PMID:17322883 PMID:17576681 More... NCBI chr 1:126,890,464...126,998,014
Ensembl chr 1:126,902,186...127,003,397
Ensembl chr 1:126,902,186...127,003,397 		JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin susceptibility ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia RGD
ClinVar		 PMID:6024251 PMID:14564668 PMID:16199547 PMID:25741868 PMID:26467025 More... RGD:1556574 NCBI chr 1:107,011,731...107,036,353
Ensembl chr 1:107,011,547...107,036,347 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 ClinVar PMID:1899786 PMID:2779008 PMID:9536098 PMID:11222789 PMID:11478530 More... NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:31332438 PMID:32811770 PMID:33578420 More... NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256 		JBrowse link
G SUB1 SUB1 regulator of transcription ISO ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:28492532 NCBI chr16:18,758,886...18,779,421
Ensembl chr16:18,758,962...18,779,419 		JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia		 ClinVar PMID:9536098 PMID:17576681 PMID:23176824 PMID:25590979 PMID:25741868 More...
G TEX44 testis expressed 44 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr15:132,266,149...132,267,612 JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More... NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		JBrowse link
G USP50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:121,272,977...121,307,029
Ensembl chr 1:121,273,043...121,307,075 		JBrowse link
G USP8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:121,306,031...121,376,154
Ensembl chr 1:121,306,032...121,413,223 		JBrowse link
G VPS37A VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:4,949,632...5,014,842
Ensembl chr17:4,949,644...4,988,074 		JBrowse link
G WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:17160902 PMID:20301727 PMID:20833645 PMID:23085491 PMID:24215330 More... NCBI chr 4:14,598,133...14,667,535
Ensembl chr 4:14,598,150...14,668,313 		JBrowse link
G WDR48 WD repeat domain 48 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28832565 NCBI chr13:23,735,566...23,786,312
Ensembl chr13:23,735,567...23,786,308 		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 chr16:18,561,909...18,656,341
Ensembl chr16:18,560,280...18,656,294 		JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 ClinVar PMID:6944241 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18394578 More... NCBI chr 7:91,518,444...91,590,480
Ensembl chr 7:91,518,452...91,590,449 		JBrowse link
hereditary spastic paraplegia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:180,299,434...180,407,003
Ensembl chr 1:180,299,256...180,405,837 		JBrowse link
G ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr15:48,643,722...48,662,648
Ensembl chr15:48,643,724...48,662,536 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526 		JBrowse link
G KIF5A kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar
OMIM		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973 		JBrowse link
G NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr15:32,208,857...32,260,064
Ensembl chr15:32,208,860...32,260,006 		JBrowse link
G REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,436,324...58,558,934 		JBrowse link
G RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:51,855,844...51,864,753
Ensembl chr 6:51,854,998...51,875,169 		JBrowse link
G SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr13:95,690,453...95,724,239
Ensembl chr13:95,658,530...95,724,156 		JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926 		JBrowse link
G WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 4:14,598,133...14,667,535
Ensembl chr 4:14,598,150...14,668,313 		JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr14:109,088,758...109,119,854
Ensembl chr14:109,088,810...109,113,011 		JBrowse link
hereditary spastic paraplegia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:8644703 PMID:15146557 PMID:15591272 PMID:20104584 PMID:20345474 More... NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		JBrowse link
G CHAT choline O-acetyltransferase ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr14:90,117,464...90,167,611
Ensembl chr14:90,117,464...90,167,611 		JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar NCBI chr 1:126,998,613...127,019,264
Ensembl chr 1:126,997,227...127,019,147 		JBrowse link
G GCH1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr 1:184,201,232...184,264,060
Ensembl chr 1:184,199,679...184,257,315 		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 chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM ClinVar PMID:21507300 PMID:23053473 PMID:24069319 PMID:25741868 PMID:28492532 NCBI chr 9:75,781,421...75,980,606
Ensembl chr 9:75,781,361...75,980,518 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum
ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum		 OMIM
ClinVar		 PMID:2223744 PMID:2795747 PMID:3283541 PMID:9536098 PMID:16199547 More... NCBI chr 1:126,890,464...126,998,014
Ensembl chr 1:126,902,186...127,003,397
Ensembl chr 1:126,902,186...127,003,397 		JBrowse link
G TBR1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr15:68,208,884...68,222,993
Ensembl chr15:68,213,562...68,222,990 		JBrowse link
G TRIM69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 1:126,775,856...126,788,628
Ensembl chr 1:126,775,217...126,814,508 		JBrowse link
hereditary spastic paraplegia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPM1N protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 ClinVar PMID:25741868 NCBI chr 6:51,865,061...51,871,146
Ensembl chr 6:51,865,955...51,869,939 		JBrowse link
G RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 | ClinVar Annotator: match by term: RTN2-related condition OMIM
ClinVar		 PMID:10677333 PMID:12427890 PMID:22232211 PMID:24123792 PMID:25741868 More... NCBI chr 6:51,855,844...51,864,753
Ensembl chr 6:51,854,998...51,875,169 		JBrowse link
hereditary spastic paraplegia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 13 OMIM
ClinVar		 PMID:10677329 PMID:12483302 PMID:17072495 PMID:17420924 PMID:18414213 More... NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526 		JBrowse link
hereditary spastic paraplegia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZFYVE26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: ZFYVE26-related condition OMIM
ClinVar		 PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 More... NCBI chr 7:91,518,444...91,590,480
Ensembl chr 7:91,518,452...91,590,449 		JBrowse link
hereditary spastic paraplegia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET OMIM
ClinVar		 PMID:1674639 PMID:5964029 PMID:11479539 PMID:14557463 PMID:14981520 More... NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886 		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 chr13:197,162,075...197,193,417
Ensembl chr13:197,162,116...197,194,078 		JBrowse link
hereditary spastic paraplegia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: ERLIN2-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 | ClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominant OMIM
ClinVar		 PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 More... NCBI chr15:48,643,722...48,662,648
Ensembl chr15:48,643,724...48,662,536 		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:84,553,770...84,566,304
Ensembl chr  X:84,553,774...84,569,030 		JBrowse link
G PLP1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED | ClinVar Annotator: match by term: Spastic paraplegia 2 OMIM
ClinVar		 PMID:1047279 PMID:1384324 PMID:1720927 PMID:2479017 PMID:2480601 More... NCBI chr  X:84,676,627...84,683,517
Ensembl chr  X:84,666,733...84,685,058 		JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED | ClinVar Annotator: match by term: Spastic paraplegia 2 ClinVar PMID:1047279 PMID:1384324 PMID:2479017 PMID:2480601 PMID:2773936 More... NCBI chr  X:84,721,269...84,733,000
Ensembl chr  X:84,721,274...84,732,990 		JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:25741868 NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926 		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:84,518,999...84,521,020
Ensembl chr  X:84,519,005...84,521,009 		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:84,485,887...84,490,011 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:84,475,232...84,477,380 JBrowse link
G TMSB15B thymosin beta 15B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:84,815,565...84,871,809 JBrowse link
hereditary spastic paraplegia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSTYK dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 OMIM
ClinVar		 PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 More... NCBI chr 9:65,833,050...65,892,024
Ensembl chr 9:65,833,054...65,891,999 		JBrowse link
hereditary spastic paraplegia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 ISO ClinVar Annotator: match by term: B4GALNT1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 26 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:25741868 More... NCBI chr 5:22,889,654...22,897,386
Ensembl chr 5:22,889,656...22,897,508 		JBrowse link
hereditary spastic paraplegia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 ClinVar PMID:28492532 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G DDHD1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: DDHD1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 OMIM
ClinVar		 PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 More... NCBI chr 1:182,667,102...182,754,526
Ensembl chr 1:182,667,428...182,754,207 		JBrowse link
hereditary spastic paraplegia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,720,648...139,730,737
Ensembl chr15:139,720,612...139,730,736 		JBrowse link
G ANKMY1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,485,294...139,531,861
Ensembl chr15:139,485,294...139,532,908 		JBrowse link
G ANO7 anoctamin 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,951,191...139,956,575 JBrowse link
G AQP12 aquaporin 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,600,775...139,606,712 JBrowse link
G ASB1 ankyrin repeat and SOCS box containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,931,419...137,952,050
Ensembl chr15:137,931,774...137,952,046 		JBrowse link
G ATG4B autophagy related 4B cysteine peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:140,223,903...140,245,590
Ensembl chr15:140,223,904...140,246,321 		JBrowse link
G BOK BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:140,171,134...140,184,126
Ensembl chr15:140,171,143...140,184,121 		JBrowse link
G CAPN10 calpain 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,557,643...139,568,764
Ensembl chr15:139,557,469...139,568,767 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
G COPS9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,260,471...139,264,252
Ensembl chr15:139,260,478...139,264,211 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:140,282,059...140,301,894
Ensembl chr15:140,282,094...140,301,892 		JBrowse link
G DTYMK deoxythymidylate kinase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:140,248,071...140,255,803
Ensembl chr15:140,248,079...140,255,805 		JBrowse link
G DUSP28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,536,828...139,539,448
Ensembl chr15:139,537,326...139,539,438 		JBrowse link
G ERFE erythroferrone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,728,507...137,738,687
Ensembl chr15:137,728,478...137,738,676 		JBrowse link
G ESPNL espin like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,674,867...137,706,968
Ensembl chr15:137,675,710...137,706,662 		JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:140,060,304...140,144,059
Ensembl chr15:140,060,372...140,144,037 		JBrowse link
G GAL3ST2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:140,308,612...140,322,624
Ensembl chr15:140,308,433...140,322,618 		JBrowse link
G GPC1 glypican 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,457,866...139,483,704
Ensembl chr15:139,457,669...139,484,670 		JBrowse link
G GPR35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,571,093...139,591,638
Ensembl chr15:139,583,769...139,591,632 		JBrowse link
G HDAC4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301 		JBrowse link
G HDLBP high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,957,703...140,025,336
Ensembl chr15:139,957,715...140,022,302 		JBrowse link
G HES6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,785,808...137,787,689
Ensembl chr15:137,785,810...137,787,694 		JBrowse link
G ILKAP ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,740,291...137,765,758
Ensembl chr15:137,740,292...137,765,784 		JBrowse link
G ING5 inhibitor of growth family member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:140,264,708...140,279,020
Ensembl chr15:140,264,766...140,279,010 		JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:9536098 PMID:16081310 PMID:16199547 PMID:16434418 PMID:17576681 More... NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826 		JBrowse link
G KLHL30 kelch like family member 30 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,709,315...137,721,806
Ensembl chr15:137,709,322...137,721,800 		JBrowse link
G LOC100521825 olfactory receptor 6B2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,040,721...139,041,685 JBrowse link
G LOC100625810 olfactory receptor 6B3-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,049,403...139,050,341 JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,283,262...137,439,383
Ensembl chr15:137,283,276...137,439,385 		JBrowse link
G MAB21L4 mab-21 like 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,734,539...139,745,131
Ensembl chr15:139,734,539...139,744,530 		JBrowse link
G MLPH melanophilin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,173,962...137,219,724
Ensembl chr15:137,174,009...137,219,713 		JBrowse link
G MTERF4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,881,217...139,887,505
Ensembl chr15:139,881,222...139,887,032 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:138,999,174...139,031,892
Ensembl chr15:138,986,421...139,031,897 		JBrowse link
G NEU4 neuraminidase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:140,324,087...140,332,226
Ensembl chr15:140,325,852...140,331,529 		JBrowse link
G OTOS otospiralin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,268,930...139,272,155
Ensembl chr15:139,268,929...139,277,541 		JBrowse link
G PASK PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,887,439...139,917,887
Ensembl chr15:139,890,178...139,917,069 		JBrowse link
G PDCD1 programmed cell death 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478 		JBrowse link
G PER2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,793,419...137,837,854
Ensembl chr15:137,793,422...137,837,070 		JBrowse link
G PPP1R7 protein phosphatase 1 regulatory subunit 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,918,006...139,937,168
Ensembl chr15:139,917,257...139,941,251 		JBrowse link
G PRLH prolactin releasing hormone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,230,209...137,232,178
Ensembl chr15:137,230,247...137,230,954 		JBrowse link
G RAB17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,232,781...137,255,884
Ensembl chr15:137,235,936...137,261,057 		JBrowse link
G RAMP1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,490,440...137,535,555
Ensembl chr15:137,490,356...137,535,553 		JBrowse link
G RBM44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,444,905...137,482,073
Ensembl chr15:137,444,855...137,481,025 		JBrowse link
G RNPEPL1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,542,193...139,551,257
Ensembl chr15:139,542,602...139,551,250 		JBrowse link
G SCLY selenocysteine lyase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,637,076...137,674,726
Ensembl chr15:137,637,128...137,674,735 		JBrowse link
G SEPTIN2 septin 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:140,023,836...140,058,291
Ensembl chr15:140,024,049...140,058,289 		JBrowse link
G SNED1 sushi, nidogen and EGF like domains 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:139,821,021...139,881,099
Ensembl chr15:139,821,228...139,881,092 		JBrowse link
G STK25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:140,144,334...140,154,361
Ensembl chr15:140,144,336...140,154,366 		JBrowse link
G THAP4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:140,190,198...140,223,454
Ensembl chr15:140,185,682...140,223,477 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,863,612...137,912,325
Ensembl chr15:137,863,609...137,912,477 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:138,228,640...138,276,341
Ensembl chr15:138,228,807...138,229,289 		JBrowse link
G UBE2F ubiquitin conjugating enzyme E2 F (putative) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr15:137,567,250...137,620,586 JBrowse link
hereditary spastic paraplegia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATOH8 atonal bHLH transcription factor 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:58,964,541...59,001,620
Ensembl chr 3:58,964,550...59,001,145 		JBrowse link
G C3H2orf68 chromosome 3 C2orf68 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:59,156,655...59,163,178
Ensembl chr 3:59,156,669...59,163,170 		JBrowse link
G GGCX gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:59,202,363...59,219,807
Ensembl chr 3:59,202,429...59,218,145 		JBrowse link
G GNLY granulysin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:59,067,327...59,072,034
Ensembl chr 3:59,067,221...59,072,045 		JBrowse link
G IMMT inner membrane mitochondrial protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:58,575,175...58,632,337
Ensembl chr 3:58,575,175...58,633,742 		JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:59,220,203...59,225,097
Ensembl chr 3:59,218,688...59,225,249 		JBrowse link
G MRPL35 mitochondrial ribosomal protein L35 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:58,559,523...58,575,110
Ensembl chr 3:58,560,680...58,575,081 		JBrowse link
G POLR1A RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:58,670,377...58,750,441
Ensembl chr 3:58,667,971...58,750,421 		JBrowse link
G PTCD3 pentatricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:58,632,214...58,670,785
Ensembl chr 3:58,628,614...58,670,760 		JBrowse link
G REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16826527 PMID:17576681 PMID:18321925 More... NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,436,324...58,558,934 		JBrowse link
G RNF181 ring finger protein 181 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:59,172,394...59,174,215
Ensembl chr 3:59,171,082...59,174,229 		JBrowse link
G SFTPB surfactant protein B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,981...59,112,396 		JBrowse link
G ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:58,862,984...58,919,554
Ensembl chr 3:58,862,987...58,919,552 		JBrowse link
G TMEM150A transmembrane protein 150A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:59,166,845...59,171,125
Ensembl chr 3:59,166,897...59,171,123 		JBrowse link
G USP39 ubiquitin specific peptidase 39 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:59,121,381...59,156,597
Ensembl chr 3:59,121,048...59,156,442 		JBrowse link
G VAMP5 vesicle associated membrane protein 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:59,177,460...59,185,703
Ensembl chr 3:59,175,872...59,178,861 		JBrowse link
G VAMP8 vesicle associated membrane protein 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 3:59,187,900...59,193,165
Ensembl chr 3:59,185,735...59,193,128 		JBrowse link
hereditary spastic paraplegia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP13A2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:25741868 NCBI chr 6:75,618,317...75,638,591
Ensembl chr 6:75,618,319...75,638,591 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:25741868 NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212 		JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: Spastic tetraparesis | ClinVar Annotator: match by term: ZFYVE27-related condition ClinVar PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28492532 More... NCBI chr14:109,088,758...109,119,854
Ensembl chr14:109,088,810...109,113,011 		JBrowse link
hereditary spastic paraplegia 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION ClinVar PMID:16783378 PMID:20301718 PMID:21735565 PMID:23176821 PMID:26936192 More... NCBI chr 8:114,016,915...114,035,905
Ensembl chr 8:114,011,304...114,035,357 		JBrowse link
G FA2H fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: FA2H-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19068277 More... NCBI chr 6:12,855,330...12,910,821
Ensembl chr 6:12,855,421...12,910,818 		JBrowse link
hereditary spastic paraplegia 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr 2:71,651,096...71,747,513
Ensembl chr 2:71,651,100...71,747,409 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:71,602,888...71,613,331
Ensembl chr 2:71,602,770...71,613,312 		JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr 2:71,639,289...71,649,445
Ensembl chr 2:71,639,301...71,652,903 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: NTE related motor neuron disorder | ClinVar Annotator: match by term: Spastic paraplegia 39 OMIM
ClinVar		 PMID:2557489 PMID:3963113 PMID:8053762 PMID:9536098 PMID:16199547 More... NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777 		JBrowse link
G SAXO5 stabilizer of axonemal microtubules 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr 2:71,625,869...71,632,658
Ensembl chr 2:71,625,862...71,631,705 		JBrowse link
G ZNF358 zinc finger protein 358 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr 2:71,615,475...71,619,683
Ensembl chr 2:71,615,551...71,619,865 		JBrowse link
hereditary spastic paraplegia 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A OMIM
ClinVar		 PMID:2720292 PMID:4684346 PMID:8252041 PMID:8981948 PMID:9246006 More... NCBI chr 1:180,299,434...180,407,003
Ensembl chr 1:180,299,256...180,405,837 		JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:11241493 PMID:21208200 PMID:23664120 PMID:28492532 NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782 		JBrowse link
G MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:180,164,427...180,299,491
Ensembl chr 1:180,164,458...180,299,496 		JBrowse link
hereditary spastic paraplegia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC6 baculoviral IAP repeat containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 3:107,012,967...107,269,370
Ensembl chr 3:107,012,986...107,269,477 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:28492532 NCBI chr 3:107,520,641...107,533,504
Ensembl chr 3:107,520,642...107,533,496 		JBrowse link
G FGG fibrinogen gamma chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr 8:74,553,040...74,562,151
Ensembl chr 8:74,553,105...74,563,688 		JBrowse link
G GNAS GNAS complex locus ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:8388883 PMID:23281139 PMID:25741868 PMID:25802881 PMID:28492532 More... NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021 		JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 NCBI chr 3:106,300,748...106,724,538
Ensembl chr 3:106,300,750...106,724,737 		JBrowse link
G MEMO1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 3:107,542,045...107,657,195
Ensembl chr 3:107,542,096...107,658,455 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr 3:107,358,117...107,389,557 JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:9990351 PMID:10999831 PMID:25741868 NCBI chr  X:10,361,403...10,415,502 JBrowse link
G PHF6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:12415272 PMID:15994862 PMID:25741868 PMID:25741869 PMID:28492532 NCBI chr  X:110,249,010...110,311,503
Ensembl chr  X:110,249,010...110,303,017 		JBrowse link
G SLC30A6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr 3:107,387,875...107,426,330
Ensembl chr 3:107,387,860...107,426,337 		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: SPAST-related condition | ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of
ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of		 OMIM
ClinVar		 PMID:2504538 PMID:9536098 PMID:9695811 PMID:10493830 PMID:10610178 More... NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 3:107,840,200...107,918,351
Ensembl chr 3:107,840,200...107,918,350 		JBrowse link
G TCF4 transcription factor 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr 1:104,718,809...105,079,919
Ensembl chr 1:104,719,151...105,079,919 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:9990351 PMID:10999831 PMID:25741868 NCBI chr  X:10,353,417...10,366,095
Ensembl chr  X:10,353,419...10,366,106 		JBrowse link
G TTC27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 3:106,822,203...106,999,125
Ensembl chr 3:106,821,423...106,999,102 		JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169 		JBrowse link
G YIPF4 Yip1 domain family member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 3:107,299,597...107,340,029
Ensembl chr 3:107,304,385...107,340,012 		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 chr13:95,690,453...95,724,239
Ensembl chr13:95,658,530...95,724,156 		JBrowse link
hereditary spastic paraplegia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C6H19orf12 chromosome 6 C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr 6:39,813,644...39,825,069
Ensembl chr 6:39,813,665...39,825,000 		JBrowse link
hereditary spastic paraplegia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 44 OMIM
ClinVar		 PMID:19056803 PMID:25741868 PMID:27057822 PMID:28492532 PMID:34055681 NCBI chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,962 		JBrowse link
hereditary spastic paraplegia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 ClinVar PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr14:113,888,970...114,060,369
Ensembl chr14:113,889,950...114,053,352 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 | ClinVar Annotator: match by term: Spastic paraplegia 45, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19415352 PMID:24482476 More... NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,459...114,145,109 		JBrowse link
hereditary spastic paraplegia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:62,517,811...62,526,379
Ensembl chr17:62,517,503...62,526,190 		JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: GBA2-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20593214 PMID:23332916 More... NCBI chr 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210 		JBrowse link
hereditary spastic paraplegia 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMPD1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:105,868,834...105,892,171
Ensembl chr 4:105,868,897...105,893,769 		JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21440262 More... NCBI chr 4:106,656,632...106,668,252
Ensembl chr 4:106,656,809...106,672,639 		JBrowse link
G BCAS2 BCAS2 pre-mRNA processing factor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:105,992,558...106,003,160
Ensembl chr 4:105,992,452...106,003,150 		JBrowse link
G BCL2L15 BCL2 like 15 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:106,673,555...106,683,103
Ensembl chr 4:106,674,728...106,681,014 		JBrowse link
G CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:107,769,570...107,821,806
Ensembl chr 4:107,768,079...107,821,819 		JBrowse link
G CSDE1 cold shock domain containing E1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:105,804,512...105,845,735
Ensembl chr 4:105,804,587...105,845,733 		JBrowse link
G CTTNBP2NL CTTNBP2 N-terminal like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:107,957,420...108,012,764
Ensembl chr 4:107,959,571...108,011,611 		JBrowse link
G DCLRE1B DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:25741868 PMID:28492532 NCBI chr 4:106,646,591...106,656,490
Ensembl chr 4:106,646,011...106,656,452 		JBrowse link
G HIPK1 homeodomain interacting protein kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:106,570,950...106,627,114
Ensembl chr 4:106,572,755...106,627,418 		JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:108,394,687...108,621,514
Ensembl chr 4:108,246,237...108,621,510 		JBrowse link
G LRIG2 leucine rich repeats and immunoglobulin like domains 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:107,348,662...107,511,308
Ensembl chr 4:107,348,669...107,492,516 		JBrowse link
G MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:106,880,617...107,120,043
Ensembl chr 4:106,882,435...107,120,035 		JBrowse link
G MOV10 Mov10 RNA helicase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:107,738,089...107,763,873
Ensembl chr 4:107,738,092...107,763,602 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
G OLFML3 olfactomedin like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:106,566,978...106,571,086
Ensembl chr 4:106,563,450...106,569,771 		JBrowse link
G PHTF1 putative homeodomain transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:106,808,926...106,885,987
Ensembl chr 4:106,809,391...106,876,846 		JBrowse link
G PPM1J protein phosphatase, Mg2+/Mn2+ dependent 1J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:107,723,427...107,728,919
Ensembl chr 4:107,723,437...107,728,919 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099 		JBrowse link
G RHOC ras homolog family member C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:107,731,713...107,737,705
Ensembl chr 4:107,731,539...107,737,705 		JBrowse link
G RSBN1 round spermatid basic protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:106,758,846...106,806,865
Ensembl chr 4:106,758,836...106,806,863 		JBrowse link
G SIKE1 suppressor of IKBKE 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:105,779,796...105,791,241
Ensembl chr 4:105,779,814...105,789,389 		JBrowse link
G SLC16A1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:107,510,920...107,547,609
Ensembl chr 4:107,494,463...107,641,703 		JBrowse link
G ST7L suppression of tumorigenicity 7 like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:107,821,610...108,005,021
Ensembl chr 4:107,822,494...107,900,334 		JBrowse link
G SYCP1 synaptonemal complex protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:105,592,354...105,730,413
Ensembl chr 4:105,591,743...105,730,398 		JBrowse link
G SYT6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:106,420,614...106,485,468
Ensembl chr 4:106,425,632...106,485,468 		JBrowse link
G TAFA3 TAFA chemokine like family member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:107,692,354...107,719,394
Ensembl chr 4:107,707,620...107,719,317 		JBrowse link
G TRIM33 tripartite motif containing 33 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:106,058,197...106,195,145
Ensembl chr 4:106,058,109...106,191,800 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:105,553,070...105,558,769
Ensembl chr 4:105,553,076...105,554,015 		JBrowse link
G WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:24065355 PMID:25614869 PMID:25741868 PMID:29768361 PMID:31911435 NCBI chr 4:14,598,133...14,667,535
Ensembl chr 4:14,598,150...14,668,313 		JBrowse link
G WNT2B Wnt family member 2B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 4:107,906,141...107,923,343
Ensembl chr 4:107,903,502...107,921,118 		JBrowse link
hereditary spastic paraplegia 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 OMIM
ClinVar		 PMID:3286 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20613862 More... NCBI chr 3:3,622,684...3,642,370
Ensembl chr 3:3,622,699...3,642,412 		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
G TECPR2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: Inherited spastic paresis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive | ClinVar Annotator: match by term: TECPR2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23176824 PMID:25590979 More...
hereditary spastic paraplegia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4M1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 More... NCBI chr 3:8,013,701...8,017,701
Ensembl chr 3:8,013,747...8,017,700 		JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G MCM7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:32979048 NCBI chr 3:8,005,890...8,014,047
Ensembl chr 3:8,005,900...8,014,053 		JBrowse link
hereditary spastic paraplegia 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 OMIM
ClinVar		 PMID:18414213 PMID:20972249 PMID:21937992 PMID:23472171 PMID:25167861 More... NCBI chr 1:120,880,460...120,946,045
Ensembl chr 1:120,880,456...120,946,031 		JBrowse link
G SPPL2A signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr 1:121,067,638...121,134,896
Ensembl chr 1:121,067,454...121,134,888 		JBrowse link
hereditary spastic paraplegia 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4S1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21620353 PMID:23167973 PMID:24700674 More... NCBI chr 7:68,420,286...68,475,643
Ensembl chr 7:68,393,285...68,471,722 		JBrowse link
hereditary spastic paraplegia 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:5,712,048...5,749,811
Ensembl chr17:5,712,058...5,758,821 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr14:4,289,257...4,318,587
Ensembl chr14:4,289,339...4,318,584 		JBrowse link
G CNOT7 CCR4-NOT transcription complex subunit 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:4,934,379...4,950,093
Ensembl chr17:4,933,453...4,950,346 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:12,145,141...12,498,777
Ensembl chr17:12,428,893...12,498,585 		JBrowse link
G FGF20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:4,691,448...4,700,367
Ensembl chr17:4,691,448...4,700,367 		JBrowse link
G FGL1 fibrinogen like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:5,546,931...5,596,434
Ensembl chr17:5,547,126...5,576,790 		JBrowse link
G INTS10 integrator complex subunit 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:12,042,317...12,087,820
Ensembl chr17:12,034,062...12,087,884 		JBrowse link
G LOC100511905 arylamine N-acetyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:13,383,478...13,393,287 JBrowse link
G LOC100518097 SH2 domain-containing protein 4A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:12,506,451...12,588,526 JBrowse link
G LPL lipoprotein lipase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814 		JBrowse link
G LZTS1 leucine zipper tumor suppressor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr14:4,344,496...4,404,208
Ensembl chr14:4,346,480...4,404,168 		JBrowse link
G MICU3 mitochondrial calcium uptake family member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:4,720,918...4,827,996
Ensembl chr17:4,721,164...4,823,695 		JBrowse link
G MTMR7 myotubularin related protein 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:5,007,560...5,122,367
Ensembl chr17:5,006,623...5,122,201 		JBrowse link
G MTUS1 microtubule associated scaffold protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:5,331,668...5,507,212
Ensembl chr17:5,329,750...5,507,119 		JBrowse link
G PCM1 pericentriolar material 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:5,596,926...5,705,752
Ensembl chr17:5,597,132...5,690,264 		JBrowse link
G PDGFRL platelet derived growth factor receptor like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:5,278,872...5,328,859
Ensembl chr17:5,279,004...5,329,511 		JBrowse link
G PSD3 pleckstrin and Sec7 domain containing 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:12,645,743...13,267,176
Ensembl chr17:12,758,536...13,264,174 		JBrowse link
G SLC18A1 solute carrier family 18 member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr14:4,243,553...4,279,341
Ensembl chr14:4,243,557...4,275,243 		JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:5,191,973...5,271,849
Ensembl chr17:5,192,022...5,271,849 		JBrowse link
G VPS37A VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 | ClinVar Annotator: match by term: Spastic paraplegia 53, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22717650 PMID:25741868 More... NCBI chr17:4,949,632...5,014,842
Ensembl chr17:4,949,644...4,988,074 		JBrowse link
G ZDHHC2 zinc finger DHHC-type palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr17:4,855,129...4,928,109
Ensembl chr17:4,855,345...4,928,664 		JBrowse link
hereditary spastic paraplegia 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:47,523,768...47,601,722
Ensembl chr15:47,523,771...47,601,710 		JBrowse link
G ADGRA2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,572,953...48,611,034
Ensembl chr15:48,573,197...48,610,668 		JBrowse link
G ADRB3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,468,803...48,478,370
Ensembl chr15:48,475,144...48,479,562 		JBrowse link
G ASH2L ASH2 like, histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,386,426...48,417,560
Ensembl chr15:48,386,425...48,417,547 		JBrowse link
G BAG4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,299,456...48,348,810
Ensembl chr15:48,299,666...48,348,527 		JBrowse link
G BRF2 BRF2 RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,568,207...48,573,036
Ensembl chr15:48,568,202...48,573,029 		JBrowse link
G DDHD2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16636240 PMID:17576681 PMID:23176823 More... NCBI chr15:48,239,932...48,292,413
Ensembl chr15:48,252,338...48,292,181 		JBrowse link
G EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,423,001...48,443,373
Ensembl chr15:48,422,816...48,443,399 		JBrowse link
G ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,643,722...48,662,648
Ensembl chr15:48,643,724...48,662,536 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		JBrowse link
G GOT1L1 glutamic-oxaloacetic transaminase 1 like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,500,156...48,506,992
Ensembl chr15:48,499,964...48,507,010 		JBrowse link
G HTRA4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:47,610,580...47,625,889 JBrowse link
G LETM2 leucine zipper and EF-hand containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,110,645...48,132,429
Ensembl chr15:48,110,652...48,131,991 		JBrowse link
G LSM1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,348,653...48,360,004
Ensembl chr15:48,348,648...48,365,106 		JBrowse link
G NSD3 nuclear receptor binding SET domain protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,119,132...48,245,673
Ensembl chr15:48,136,363...48,241,815 		JBrowse link
G PLEKHA2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:47,626,107...47,697,238
Ensembl chr15:47,626,110...47,697,603 		JBrowse link
G PLPBP pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,624,790...48,636,584
Ensembl chr15:48,624,837...48,636,589 		JBrowse link
G PLPP5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,246,054...48,251,839
Ensembl chr15:48,246,029...48,252,196 		JBrowse link
G RAB11FIP1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,527,379...48,561,408 JBrowse link
G STAR steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462 		JBrowse link
G TACC1 transforming acidic coiled-coil containing protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:47,749,079...47,861,200 JBrowse link
G TM2D2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr15:47,601,940...47,611,802
Ensembl chr15:47,601,616...47,611,804 		JBrowse link
hereditary spastic paraplegia 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 55 | ClinVar Annotator: match by term: Spastic paraplegia 55, autosomal recessive OMIM
ClinVar		 PMID:3479531 PMID:20598281 PMID:23188110 PMID:24080142 PMID:24198383 More... NCBI chr14:29,644,945...29,658,906
Ensembl chr14:29,645,603...29,658,899 		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: CYP2U1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 OMIM
ClinVar		 PMID:615030 PMID:14660610 PMID:16783378 PMID:20301718 PMID:21735565 More... NCBI chr 8:114,016,915...114,035,905
Ensembl chr 8:114,011,304...114,035,357 		JBrowse link
hereditary spastic paraplegia 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFG trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 57 | ClinVar Annotator: match by term: Spastic paraplegia 57, autosomal recessive OMIM
ClinVar		 PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 More... NCBI chr13:158,291,090...158,326,902
Ensembl chr13:158,288,579...158,326,885 		JBrowse link
hereditary spastic paraplegia 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USP8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 59 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:121,306,031...121,376,154
Ensembl chr 1:121,306,032...121,413,223 		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 chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215 		JBrowse link
G C6H19orf12 chromosome 6 C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:21981780 PMID:25741868 PMID:28492532 PMID:39825153 NCBI chr 6:39,813,644...39,825,069
Ensembl chr 6:39,813,665...39,825,000 		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 8:114,016,915...114,035,905
Ensembl chr 8:114,011,304...114,035,357 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A OMIM
ClinVar		 PMID:1943942 PMID:7987300 PMID:9536098 PMID:9802883 PMID:12874406 More... NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,049...69,806,496 		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 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chr 2:71,602,888...71,613,331
Ensembl chr 2:71,602,770...71,613,312 		JBrowse link
G REEP2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:28492532 NCBI chr 2:140,420,422...140,427,160
Ensembl chr 2:140,420,516...140,427,160 		JBrowse link
hereditary spastic paraplegia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYFIP1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr15:32,064,431...32,175,095
Ensembl chr15:32,064,428...32,175,094 		JBrowse link
G NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 3 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 | ClinVar Annotator: match by term: NIPA1-related condition OMIM
ClinVar		 PMID:7825577 PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 More... NCBI chr15:32,208,857...32,260,064
Ensembl chr15:32,208,860...32,260,006 		JBrowse link
G NIPA2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr15:32,175,096...32,202,366
Ensembl chr15:32,175,104...32,202,200 		JBrowse link
G TUBGCP5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr15:31,995,727...32,042,297
Ensembl chr15:31,995,741...32,056,755 		JBrowse link
hereditary spastic paraplegia 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL6IP1 ARL6 interacting reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 61 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 More... NCBI chr 3:26,759,365...26,770,325
Ensembl chr 3:26,653,979...26,770,322 		JBrowse link
hereditary spastic paraplegia 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCYL1 adenosylhomocysteinase like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,092,976...110,132,826
Ensembl chr 4:110,092,907...110,132,646 		JBrowse link
G AKNAD1 AKNA domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:111,195,277...111,229,474 JBrowse link
G ALX3 ALX homeobox 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,047,254...110,058,205
Ensembl chr 4:110,047,116...110,057,872 		JBrowse link
G AMIGO1 adhesion molecule with Ig like domain 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,620,429...110,631,549
Ensembl chr 4:110,620,444...110,628,833 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 | ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23911318 PMID:24482476 More... NCBI chr 4:110,493,490...110,505,123
Ensembl chr 4:110,493,492...110,505,138 		JBrowse link
G ATXN7L2 ataxin 7 like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,637,233...110,646,081
Ensembl chr 4:110,637,237...110,646,041 		JBrowse link
G CD53 CD53 molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:109,306,552...109,335,876
Ensembl chr 4:109,306,555...109,335,802 		JBrowse link
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,819,422...110,845,354
Ensembl chr 4:110,819,428...110,845,132 		JBrowse link
G CFAP276 cilia and flagella associated protein 276 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,954,190...110,962,472
Ensembl chr 4:110,955,163...110,961,962 		JBrowse link
G CLCC1 chloride channel CLIC like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:111,080,648...111,101,007
Ensembl chr 4:111,080,682...111,101,303 		JBrowse link
G CSF1 colony stimulating factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900 		JBrowse link
G CYB561D1 cytochrome b561 family member D1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,625,720...110,635,938
Ensembl chr 4:110,627,632...110,635,912 		JBrowse link
G DRAM2 DNA damage regulated autophagy modulator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:109,183,389...109,205,735
Ensembl chr 4:109,183,345...109,204,960 		JBrowse link
G EEIG2 EEIG family member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:111,391,672...111,467,230
Ensembl chr 4:111,392,338...111,467,300 		JBrowse link
G ELAPOR1 endosome-lysosome associated apoptosis and autophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,881,770...110,954,092
Ensembl chr 4:110,881,768...110,953,967 		JBrowse link
G EPS8L3 EPS8 signaling adaptor L3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,311,533...110,326,999
Ensembl chr 4:110,311,519...110,326,994 		JBrowse link
G FNDC7 fibronectin type III domain containing 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:111,299,357...111,328,550
Ensembl chr 4:111,299,353...111,328,378 		JBrowse link
G GNAI3 G protein subunit alpha i3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,527,363...110,579,331
Ensembl chr 4:110,525,546...110,579,053 		JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,512,349...110,523,222
Ensembl chr 4:110,498,707...110,524,072 		JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:111,100,912...111,165,902
Ensembl chr 4:111,102,396...111,165,886 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,330,027...110,332,957
Ensembl chr 4:110,330,028...110,332,962 		JBrowse link
G HENMT1 HEN methyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:111,364,456...111,382,582
Ensembl chr 4:111,364,966...111,382,572 		JBrowse link
G KCNA10 potassium voltage-gated channel subfamily A member 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:109,646,024...109,647,699
Ensembl chr 4:109,646,024...109,647,559 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:109,534,923...109,570,172
Ensembl chr 4:109,557,973...109,560,998 		JBrowse link
G KCNA3 potassium voltage-gated channel subfamily A member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:109,495,220...109,498,548
Ensembl chr 4:109,495,350...109,497,116 		JBrowse link
G KCNC4 potassium voltage-gated channel subfamily C member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:109,885,116...109,908,518
Ensembl chr 4:109,885,116...109,908,476 		JBrowse link
G LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:109,722,664...109,728,278
Ensembl chr 4:109,722,913...109,728,257 		JBrowse link
G LOC100519022 neuroblastoma breakpoint family member 6-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:100,446,776...100,478,798 JBrowse link
G LOC106510200 glutathione S-transferase Mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,378,016...110,413,483 JBrowse link
G LRIF1 ligand dependent nuclear receptor interacting factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:109,271,562...109,292,313
Ensembl chr 4:109,271,728...109,292,310 		JBrowse link
G MYBPHL myosin binding protein H like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,792,628...110,809,479
Ensembl chr 4:110,793,408...110,808,248 		JBrowse link
G PROK1 prokineticin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:109,688,989...109,693,705
Ensembl chr 4:109,688,693...109,694,012 		JBrowse link
G PRPF38B pre-mRNA processing factor 38B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:111,338,988...111,347,505
Ensembl chr 4:111,233,281...111,347,501 		JBrowse link
G PSMA5 proteasome 20S subunit alpha 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,695,429...110,717,308
Ensembl chr 4:110,662,692...110,717,290 		JBrowse link
G PSRC1 proline and serine rich coiled-coil 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,813,306...110,819,815
Ensembl chr 4:110,813,339...110,817,108 		JBrowse link
G RBM15 RNA binding motif protein 15 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:109,767,464...109,791,555
Ensembl chr 4:109,768,311...109,786,383 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,857,067...110,874,712
Ensembl chr 4:110,857,089...110,874,815 		JBrowse link
G SLC16A4 solute carrier family 16 member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:109,738,584...109,763,649
Ensembl chr 4:109,739,094...109,763,645 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:111,580,186...111,632,390
Ensembl chr 4:111,579,663...111,634,266 		JBrowse link
G SLC6A17 solute carrier family 6 member 17 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:109,919,153...109,974,235
Ensembl chr 4:109,919,151...109,974,235 		JBrowse link
G SORT1 sortilin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,721,110...110,791,406
Ensembl chr 4:110,720,947...110,789,070 		JBrowse link
G STRIP1 striatin interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,061,596...110,081,017
Ensembl chr 4:110,061,604...110,080,822 		JBrowse link
G STXBP3 syntaxin binding protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:111,234,154...111,294,067
Ensembl chr 4:111,233,991...111,293,964 		JBrowse link
G SYPL2 synaptophysin like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,647,790...110,663,199
Ensembl chr 4:110,647,796...110,663,154 		JBrowse link
G TAF13 TATA-box binding protein associated factor 13 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,980,816...110,991,941
Ensembl chr 4:110,971,573...110,992,018 		JBrowse link
G TMEM167B transmembrane protein 167B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,965,891...110,971,509
Ensembl chr 4:110,965,939...110,971,481 		JBrowse link
G UBL4B ubiquitin like 4B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:110,003,817...110,007,435 JBrowse link
G WDR47 WD repeat domain 47 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 4:111,006,338...111,076,924
Ensembl chr 4:111,006,968...111,076,918 		JBrowse link
hereditary spastic paraplegia 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 64 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 More... NCBI chr14:107,263,546...107,390,923
Ensembl chr14:107,263,449...107,389,010 		JBrowse link
hereditary spastic paraplegia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:21623769 PMID:22964162 PMID:28492532 NCBI chr 6:455,856...612,878
Ensembl chr 6:455,851...612,868 		JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:39825153 NCBI chr 6:166,002,853...166,012,191
Ensembl chr 6:166,003,351...166,012,190 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 | ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type | ClinVar Annotator: match by term: SPG7-related condition OMIM
ClinVar		 PMID:311171 PMID:9536098 PMID:9634528 PMID:9635427 PMID:11222789 More... NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212 		JBrowse link
hereditary spastic paraplegia 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive ClinVar PMID:24482476 PMID:28492532 NCBI chr 5:22,747,346...22,762,179
Ensembl chr 5:22,747,339...22,762,049 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive OMIM
ClinVar		 PMID:24482476 PMID:25741868 PMID:28492532 PMID:28708278 PMID:34585293 NCBI chr 5:22,752,405...22,785,509
Ensembl chr 5:22,752,374...22,785,501 		JBrowse link
hereditary spastic paraplegia 72A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REEP2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 72 | ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia 72b, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24388663 PMID:24482476 PMID:25741868 More... NCBI chr 2:140,420,422...140,427,160
Ensembl chr 2:140,420,516...140,427,160 		JBrowse link
hereditary spastic paraplegia 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPT1C carnitine palmitoyltransferase 1C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25751282 More... NCBI chr 6:54,732,701...54,747,706
Ensembl chr 6:54,731,557...54,749,248 		JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 ClinVar PMID:25741868 NCBI chr 6:37,625,428...37,669,695
Ensembl chr 6:37,625,436...37,669,663 		JBrowse link
hereditary spastic paraplegia 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IBA57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 | ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23462291 PMID:25609768 PMID:25741868 More... NCBI chr 2:51,276,352...51,287,572
Ensembl chr 2:51,276,335...51,293,544 		JBrowse link
hereditary spastic paraplegia 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALKBH6 alkB homolog 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,384,955...45,390,247
Ensembl chr 6:45,384,957...45,390,244 		JBrowse link
G APLP1 amyloid beta precursor like protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,285,698...45,295,355
Ensembl chr 6:45,285,718...45,295,350 		JBrowse link
G ARHGAP33 Rho GTPase activating protein 33 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,198,657...45,213,655
Ensembl chr 6:45,199,456...45,213,653 		JBrowse link
G ATP4A ATPase H+/K+ transporting subunit alpha ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,984,014...45,057,796
Ensembl chr 6:44,984,233...44,997,552 		JBrowse link
G CAPNS1 calpain small subunit 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,511,410...45,518,610
Ensembl chr 6:45,511,295...45,518,610 		JBrowse link
G CD22 CD22 molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,820,593...44,834,392
Ensembl chr 6:44,820,689...44,834,389 		JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:43,083,200...43,085,884
Ensembl chr 6:43,083,207...43,085,836 		JBrowse link
G CEBPG CCAAT enhancer binding protein gamma ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:43,164,902...43,175,002
Ensembl chr 6:43,164,919...43,174,990 		JBrowse link
G CEP89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:42,733,675...42,815,286
Ensembl chr 6:42,735,666...42,815,281 		JBrowse link
G CHST8 carbohydrate sulfotransferase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:43,371,436...43,493,250
Ensembl chr 6:43,371,531...43,493,246 		JBrowse link
G CLIP3 CAP-Gly domain containing linker protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,390,656...45,418,866
Ensembl chr 6:45,390,659...45,405,655 		JBrowse link
G COX6B COX6B protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,091,829...45,102,785
Ensembl chr 6:45,091,895...45,102,669 		JBrowse link
G COX7A1 cytochrome c oxidase subunit 7A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,519,225...45,520,721
Ensembl chr 6:45,517,229...45,520,713 		JBrowse link
G DMKN dermokine ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,942,067...44,957,192
Ensembl chr 6:44,942,782...44,955,105 		JBrowse link
G ETV2 ETS variant transcription factor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,085,984...45,089,592
Ensembl chr 6:45,087,100...45,089,626 		JBrowse link
G FAAP24 FA core complex associated protein 24 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:42,815,475...42,819,116
Ensembl chr 6:42,815,528...42,819,623 		JBrowse link
G FAM187B family with sequence similarity 187 member B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,742,210...44,759,463
Ensembl chr 6:44,742,213...44,746,980 		JBrowse link
G FFAR1 free fatty acid receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,837,764...44,841,518 JBrowse link
G FFAR2 free fatty acid receptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,899,879...44,904,461
Ensembl chr 6:44,901,159...44,904,459 		JBrowse link
G FFAR3 free fatty acid receptor 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,844,149...44,845,172 JBrowse link
G FXYD3 FXYD domain containing ion transport regulator 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,647,771...44,654,377
Ensembl chr 6:44,647,466...44,654,374 		JBrowse link
G FXYD5 FXYD domain containing ion transport regulator 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,682,245...44,696,088 JBrowse link
G FXYD7 FXYD domain containing ion transport regulator 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,668,591...44,681,846 JBrowse link
G GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,968,965...44,978,992
Ensembl chr 6:44,969,139...44,979,166 		JBrowse link
G GARRE1 granule associated Rac and RHOG effector 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:43,933,704...44,030,663
Ensembl chr 6:43,933,787...44,030,653 		JBrowse link
G GPATCH1 G-patch domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:42,895,488...42,941,560
Ensembl chr 6:42,895,517...42,941,558 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,038,374...44,069,331
Ensembl chr 6:44,038,357...44,069,328 		JBrowse link
G GRAMD1A GRAM domain containing 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,573,889...44,594,168
Ensembl chr 6:44,573,937...44,594,166 		JBrowse link
G HAMP hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,160...44,787,305 		JBrowse link
G HAUS5 HAUS augmin like complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,057,801...45,071,604
Ensembl chr 6:45,057,837...45,071,611 		JBrowse link
G HCST hematopoietic cell signal transducer ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,304,744...45,309,048 JBrowse link
G HPN hepsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,608,076...44,628,044
Ensembl chr 6:44,608,071...44,628,049 		JBrowse link
G HSPB6 heat shock protein family B (small) member 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,181,439...45,184,011
Ensembl chr 6:45,181,443...45,183,998 		JBrowse link
G IGFLR1 IGF like family receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,167,556...45,169,923 JBrowse link
G KCTD15 potassium channel tetramerization domain containing 15 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:43,528,677...43,545,834
Ensembl chr 6:43,529,806...43,544,186 		JBrowse link
G KIRREL2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,275,737...45,284,096
Ensembl chr 6:45,275,716...45,284,444 		JBrowse link
G KMT2B lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,146,863...45,166,854
Ensembl chr 6:45,147,566...45,166,852 		JBrowse link
G KRTDAP keratinocyte differentiation associated protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,932,195...44,935,921
Ensembl chr 6:44,932,195...44,935,353 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,655,621...44,663,874
Ensembl chr 6:44,655,619...44,663,234 		JBrowse link
G LIN37 lin-37 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,175,454...45,181,383
Ensembl chr 6:45,175,500...45,181,391 		JBrowse link
G LRFN3 leucine rich repeat and fibronectin type III domain containing 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,343,846...45,352,779
Ensembl chr 6:45,346,637...45,351,990 		JBrowse link
G LRP3 LDL receptor related protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:42,988,446...43,001,424
Ensembl chr 6:42,988,482...43,001,421 		JBrowse link
G LSM14A LSM14A mRNA processing body assembly factor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:43,847,882...43,901,697
Ensembl chr 6:43,847,732...43,903,587 		JBrowse link
G LSR lipolysis stimulated lipoprotein receptor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,759,091...44,773,378
Ensembl chr 6:44,759,073...44,773,379 		JBrowse link
G MAG myelin associated glycoprotein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 | ClinVar Annotator: match by term: Spastic paraplegia 75, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 More... NCBI chr 6:44,794,197...44,809,933
Ensembl chr 6:44,794,204...44,809,926 		JBrowse link
G NFKBID NFKB inhibitor delta ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,298,289...45,307,471
Ensembl chr 6:45,298,288...45,306,316 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,248,325...45,271,892
Ensembl chr 6:45,248,325...45,274,577 		JBrowse link
G NUDT19 nudix hydrolase 19 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:42,574,064...42,583,473
Ensembl chr 6:42,574,071...42,583,926 		JBrowse link
G OVOL3 ovo like zinc finger 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,477,261...45,480,822
Ensembl chr 6:45,478,098...45,480,786 		JBrowse link
G PDCD2L programmed cell death 2 like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,074,107...44,097,070
Ensembl chr 6:44,074,127...44,097,065 		JBrowse link
G PEPD peptidase D ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:43,177,063...43,290,389
Ensembl chr 6:43,177,062...43,290,369 		JBrowse link
G POLR2I RNA polymerase II subunit I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,480,785...45,482,318
Ensembl chr 6:45,479,555...45,481,990 		JBrowse link
G PRODH2 proline dehydrogenase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,213,712...45,240,437 JBrowse link
G PROSER3 proline and serine rich 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,184,765...45,195,052
Ensembl chr 6:45,184,499...45,195,058 		JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,171,825...45,174,112
Ensembl chr 6:45,171,825...45,174,102 		JBrowse link
G RBM42 RNA binding motif protein 42 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,074,527...45,083,124
Ensembl chr 6:45,074,540...45,083,239 		JBrowse link
G RGS9BP regulator of G protein signaling 9 binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:42,560,059...42,563,179
Ensembl chr 6:42,560,113...42,565,154 		JBrowse link
G RHPN2 rhophilin Rho GTPase binding protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:42,820,564...42,891,340
Ensembl chr 6:42,820,568...42,891,346 		JBrowse link
G SBSN suprabasin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,960,693...44,966,592
Ensembl chr 6:44,960,699...44,966,390 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,482...44,607,481 		JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,374,714...45,376,346
Ensembl chr 6:45,375,288...45,377,965 		JBrowse link
G SLC7A10 solute carrier family 7 member 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:43,002,427...43,017,605
Ensembl chr 6:43,002,431...43,017,554 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:42,664,795...42,706,113
Ensembl chr 6:42,669,093...42,714,267 		JBrowse link
G SYNE4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,377,914...45,384,869
Ensembl chr 6:45,380,218...45,384,671 		JBrowse link
G TBCB tubulin folding cofactor B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,482,542...45,492,627
Ensembl chr 6:45,482,371...45,492,627 		JBrowse link
G TDRD12 tudor domain containing 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:42,589,557...42,667,946
Ensembl chr 6:42,589,556...42,665,845 		JBrowse link
G THAP8 THAP domain containing 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,407,145...45,418,848
Ensembl chr 6:45,406,742...45,418,856 		JBrowse link
G TMEM147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,979,195...44,981,051
Ensembl chr 6:44,979,190...44,981,049 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,309,199...45,312,562
Ensembl chr 6:45,309,201...45,312,539 		JBrowse link
G U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,167,556...45,172,382
Ensembl chr 6:45,168,927...45,172,305 		JBrowse link
G UBA2 ubiquitin like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,103,150...44,141,396 JBrowse link
G UPK1A uroplakin 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,105,118...45,113,631
Ensembl chr 6:45,104,021...45,114,122 		JBrowse link
G USF2 upstream transcription factor 2, c-fos interacting ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,774,417...44,783,594
Ensembl chr 6:44,774,008...44,783,592 		JBrowse link
G WDR62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,418,966...45,477,619
Ensembl chr 6:45,419,015...45,474,050 		JBrowse link
G WDR88 WD repeat domain 88 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:42,942,231...42,967,828
Ensembl chr 6:42,942,193...42,968,436 		JBrowse link
G WTIP WT1 interacting protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,150,875...44,178,378
Ensembl chr 6:44,150,753...44,178,373 		JBrowse link
G ZBTB32 zinc finger and BTB domain containing 32 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:45,140,573...45,145,903
Ensembl chr 6:45,142,262...45,145,898 		JBrowse link
G ZNF181 zinc finger protein 181 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,345,408...44,357,775 JBrowse link
G ZNF599 zinc finger protein 599 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,369,885...44,388,782
Ensembl chr 6:44,343,741...44,388,758 		JBrowse link
G ZNF792 zinc finger protein 792 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 6:44,518,197...44,537,167
Ensembl chr 6:44,522,185...44,536,853 		JBrowse link
hereditary spastic paraplegia 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN1 calpain 1 ISO ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76 | ClinVar Annotator: match by term: CAPN1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27153400 PMID:27320912 More... NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,985...7,022,684 		JBrowse link
hereditary spastic paraplegia 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 | ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive OMIM
ClinVar		 PMID:22833457 PMID:25741868 PMID:25851414 PMID:26553276 PMID:28492532 More... NCBI chr 7:3,193,433...3,557,413
Ensembl chr 7:3,262,396...3,557,407 		JBrowse link
G LYRM4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive ClinVar PMID:25741868 NCBI chr 7:3,034,846...3,193,123
Ensembl chr 7:3,070,470...3,192,922 		JBrowse link
hereditary spastic paraplegia 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP13A2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: ATP13A2-related condition | ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 78 OMIM
ClinVar		 PMID:9536098 PMID:12169656 PMID:16964263 PMID:17576681 PMID:18075584 More... NCBI chr 6:75,618,317...75,638,591
Ensembl chr 6:75,618,319...75,638,591 		JBrowse link
hereditary spastic paraplegia 79A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:35986737 PMID:37650884 NCBI chr 8:32,353,766...32,367,288
Ensembl chr 8:32,353,246...32,367,332 		JBrowse link
hereditary spastic paraplegia 79B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome ClinVar PMID:16199547 PMID:21623769 PMID:22964162 PMID:23065789 PMID:25741868 More... NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome ClinVar
OMIM		 PMID:3340629 PMID:4514348 PMID:10203348 PMID:10563640 PMID:12408865 More... NCBI chr 8:32,353,766...32,367,288
Ensembl chr 8:32,353,246...32,367,332 		JBrowse link
hereditary spastic paraplegia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 5:41,571,054...41,636,058
Ensembl chr 5:41,570,282...41,636,028 		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 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:28492532 NCBI chr 4:14,359,323...14,598,192
Ensembl chr 4:14,358,651...14,598,077 		JBrowse link
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:94,295,332...94,666,560
Ensembl chr 1:94,295,851...94,663,017 		JBrowse link
G TBK1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 5:28,880,210...28,929,964
Ensembl chr 5:28,880,205...28,929,963 		JBrowse link
G WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: WASHC5-related condition OMIM
ClinVar		 PMID:7604842 PMID:9536098 PMID:10797436 PMID:16199547 PMID:17160902 More... NCBI chr 4:14,598,133...14,667,535
Ensembl chr 4:14,598,150...14,668,313 		JBrowse link
hereditary spastic paraplegia 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBAP1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant | ClinVar Annotator: match by term: UBAP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741869 PMID:30929741 PMID:31203368 PMID:31515522 More... NCBI chr10:32,552,243...32,626,100
Ensembl chr10:32,552,245...32,626,083 		JBrowse link
hereditary spastic paraplegia 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SELENOI selenoprotein I ISO ClinVar Annotator: match by term: Spastic paraplegia 81, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28052917 PMID:29500230 PMID:33454747 PMID:36942482 NCBI chr 3:112,632,985...112,671,127
Ensembl chr 3:112,628,744...112,671,078 		JBrowse link
hereditary spastic paraplegia 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCYT2 phosphate cytidylyltransferase 2, ethanolamine ISO ClinVar Annotator: match by term: Spastic paraplegia 82, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31637422 PMID:32889549 PMID:33454747 More... NCBI chr12:1,084,416...1,091,031
Ensembl chr12:1,084,410...1,091,029 		JBrowse link
hereditary spastic paraplegia 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPDL 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:32707086 PMID:33188300 PMID:33970200 NCBI chr 6:166,012,590...166,015,051
Ensembl chr 6:166,012,601...166,014,323 		JBrowse link
hereditary spastic paraplegia 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Spastic paraplegia 84, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34415322 NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944 		JBrowse link
hereditary spastic paraplegia 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Spastic paraplegia 85, autosomal recessive OMIM
ClinVar		 PMID:17190954 PMID:21115467 PMID:25741868 PMID:25882839 PMID:31636353 More... NCBI chr17:11,777,942...11,817,920
Ensembl chr17:11,780,129...11,816,049 		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 7:23,800,932...23,814,920
Ensembl chr 7:23,800,932...23,814,947 		JBrowse link
hereditary spastic paraplegia 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM63C transmembrane protein 63C ISO ClinVar Annotator: match by term: Spastic paraplegia 87, autosomal recessive OMIM
ClinVar		 PMID:35718349 NCBI chr 7:100,262,732...100,334,300
Ensembl chr 7:100,263,549...100,334,292 		JBrowse link
hereditary spastic paraplegia 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KPNA3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Spastic paraplegia 88, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:34564892 PMID:34825409 PMID:34981581 NCBI chr11:17,948,210...18,033,818
Ensembl chr11:17,948,210...18,031,946 		JBrowse link
hereditary spastic paraplegia 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMFR autocrine motility factor receptor ISO ClinVar Annotator: match by term: Spastic paraplegia 89, autosomal recessive OMIM
ClinVar		 PMID:37119330 NCBI chr 6:29,366,812...29,417,800
Ensembl chr 6:29,366,827...29,413,697 		JBrowse link
hereditary spastic paraplegia 90A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTSSA serine palmitoyltransferase small subunit A ISO ClinVar Annotator: match by term: Spastic paraplegia 90A, autosomal dominant ClinVar
OMIM		 PMID:36718090 NCBI chr 7:65,302,887...65,325,877
Ensembl chr 7:65,302,858...65,326,728 		JBrowse link
hereditary spastic paraplegia 90B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTSSA serine palmitoyltransferase small subunit A ISO ClinVar Annotator: match by term: Spastic paraplegia 90B, autosomal recessive OMIM
ClinVar		 NCBI chr 7:65,302,887...65,325,877
Ensembl chr 7:65,302,858...65,326,728 		JBrowse link
hereditary spastic paraplegia 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy | ClinVar Annotator: match by term: Cataracts, motor neuronopathy, short stature and skeletal abnormalities | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX OMIM
ClinVar		 PMID:8779323 PMID:9643297 PMID:9973297 PMID:25741868 PMID:26026163 More... NCBI chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215 		JBrowse link
hereditary spastic paraplegia 9B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia type 9B | ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:9643297 PMID:17576681 PMID:25741868 PMID:26026163 More... NCBI chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215 		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: DARS1-related condition | ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity OMIM
ClinVar		 PMID:23643384 PMID:25527264 PMID:25741868 PMID:27816769 PMID:28492532 NCBI chr15:15,810,497...15,885,706
Ensembl chr15:15,810,618...15,885,706 		JBrowse link
MASA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr 5:63,782,159...63,795,648
Ensembl chr 5:63,782,162...63,795,648 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome OMIM
ClinVar		 PMID:1303258 PMID:1870106 PMID:3460961 PMID:7493978 PMID:7562969 More... NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,269 		JBrowse link
MAST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPG21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Mast syndrome | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:6024251 PMID:9536098 PMID:14564668 PMID:16199547 PMID:17576681 More... NCBI chr 1:107,011,731...107,036,353
Ensembl chr 1:107,011,547...107,036,347 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction OMIM
ClinVar		 PMID:25741868 PMID:36965478
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 5:64,188,184...64,197,033
Ensembl chr 5:64,188,179...64,197,264 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1 OMIM
ClinVar		 PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 5:64,181,496...64,188,275 JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMTA2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,931,794...51,948,703
Ensembl chr12:51,931,802...51,948,705 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,999,504...52,016,592
Ensembl chr12:52,011,250...52,016,299 		JBrowse link
G ENO3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,954,614...51,959,991
Ensembl chr12:51,954,613...51,961,496 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,975,810...51,979,428
Ensembl chr12:51,975,874...51,977,757 		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 chr12:51,923,764...51,931,875
Ensembl chr12:51,924,902...51,931,873 		JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17273843 PMID:17576681 PMID:24319291 More... NCBI chr12:51,899,762...51,924,465
Ensembl chr12:51,897,494...51,924,432 		JBrowse link
G PFN1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,962,642...51,965,570
Ensembl chr12:51,961,952...51,965,464 		JBrowse link
G RNF167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,966,028...51,970,811
Ensembl chr12:51,966,032...51,970,898 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,970,794...51,973,668
Ensembl chr12:51,970,806...51,975,548 		JBrowse link
G SPAG7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr12:51,948,788...51,953,587
Ensembl chr12:51,948,722...51,953,585 		JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARS2 methionyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic ataxia 3 OMIM
ClinVar		 PMID:22448145 PMID:25741868 PMID:28492532 NCBI chr15:101,508,668...101,524,076
Ensembl chr15:101,510,638...101,512,419 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471 PMID:21450511 PMID:21507954 PMID:24033266 PMID:24180463 More... NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316 		JBrowse link
Spastic paraplegia 30, autosomal dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30A, AUTOSOMAL DOMINANT OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21376300 PMID:21820098 PMID:22258533 More... NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826 		JBrowse link
Spastic paraplegia 30, autosomal recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia 30b, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16434418 PMID:17576681 PMID:21376300 PMID:21487076 More... NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826 		JBrowse link
Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31332438 PMID:32811770 PMID:35150594 More... NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256 		JBrowse link
Spastic Paraplegia 92, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FICD FIC domain protein adenylyltransferase ISO OMIM NCBI chr14:42,261,505...42,269,184
Ensembl chr14:42,260,069...42,266,858 		JBrowse link
Spastic Paraplegia 93, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFU1 NFU1 iron-sulfur cluster scaffold ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:24462778 PMID:25477904 PMID:25741868 PMID:25758857 PMID:25918518 More... NCBI chr 3:72,983,075...73,013,227
Ensembl chr 3:72,983,136...73,024,663 		JBrowse link
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFAP glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity ClinVar PMID:11138011 PMID:11567214 PMID:15732097 PMID:17065456 PMID:17383133 More... NCBI chr12:18,456,268...18,466,594
Ensembl chr12:18,456,263...18,466,592 		JBrowse link
G KIDINS220 kinase D interacting substrate 220 ISO ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 More... NCBI chr 3:127,382,587...127,477,753
Ensembl chr 3:127,382,611...127,474,195 		JBrowse link
G LRBA LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity ClinVar PMID:25741868 NCBI chr 8:77,970,087...78,680,307
Ensembl chr 8:77,970,558...78,680,250 		JBrowse link
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOD1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia, progressive OMIM
ClinVar		 PMID:1259395 PMID:2517465 PMID:7673954 PMID:7881433 PMID:7997024 More... NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
spastic tetraplegia, thin corpus callosum, and progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC1A4 solute carrier family 1 member 4 ISO ClinVar Annotator: match by term: SLC1A4-related condition | ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly OMIM
ClinVar		 PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chr 3:76,938,102...76,970,519
Ensembl chr 3:76,938,107...76,970,508 		JBrowse link
SPOAN syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLC2 kinesin light chain 2 ISO ClinVar Annotator: match by term: KLC2-related condition | ClinVar Annotator: match by term: Spastic paraplegia, optic atropy, and neuropathy OMIM
ClinVar		 PMID:24482476 PMID:25741868 PMID:26385635 PMID:28492532 NCBI chr 2:6,117,236...6,127,048
Ensembl chr 2:6,116,429...6,126,951 		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 8:125,821,195...127,130,617
Ensembl chr 8:125,819,951...127,129,763 		JBrowse link
G SPART spartin ISO ClinVar Annotator: match by term: SPART-related condition | ClinVar Annotator: match by term: Troyer syndrome OMIM
ClinVar		 PMID:12134148 PMID:18413476 PMID:20437587 PMID:20504295 PMID:23699601 More... NCBI chr11:12,313,211...12,346,226
Ensembl chr11:12,313,335...12,346,204 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15436
    disease of anatomical entity 15105
      nervous system disease 13259
        central nervous system disease 11851
          paraplegia 697
            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 1
            Spastic Paraplegia, Ataxia, and Mental Retardation 0
            hereditary spastic paraplegia + 459
Path 2
Term Annotations click to browse term
  disease 15436
    disease of anatomical entity 15105
      nervous system disease 13259
        Neurologic Manifestations 9841
          Paralysis 815
            paraplegia 697
              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 1
              Spastic Paraplegia, Ataxia, and Mental Retardation 0
              hereditary spastic paraplegia + 459
paths to the root