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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:156,579,669...156,601,448
Ensembl chr  X:156,579,785...156,601,446 		JBrowse link
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:34587489 NCBI chr20:3,723,756...3,738,617
Ensembl chr20:3,723,757...3,738,736 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:73,725,186...73,804,284
Ensembl chr16:73,725,114...73,804,646 		JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:71,635,814...71,674,275
Ensembl chr16:71,636,164...71,674,154 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:71,544,603...71,547,410
Ensembl chr16:71,542,567...71,547,420 		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 7:64,782,618...64,799,624
Ensembl chr 7:64,782,612...64,799,640 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 IEP mRNA:decreased expression:soleus RGD PMID:18236467 RGD:5509082 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610 		JBrowse link
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 2:194,006,926...194,018,971
Ensembl chr 2:194,006,919...194,018,968 		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 3:134,726,338...134,792,820
Ensembl chr 3:134,726,287...134,792,818 		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 chr12:22,163,474...22,171,734
Ensembl chr12:22,163,466...22,171,731 		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 6:74,863,742...74,916,907
Ensembl chr 6:74,868,558...74,912,406 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr12:17,207,315...17,222,975
Ensembl chr12:17,207,315...17,222,467 		JBrowse link
G Apof apolipoprotein F ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:1,285,222...1,286,659
Ensembl chr 7:1,285,222...1,286,659 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:61,035,165...61,040,683
Ensembl chr 5:61,035,166...61,040,685 		JBrowse link
G Arf1 ARF GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 More... NCBI chr10:44,497,543...44,513,994 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:156,787,566...156,802,841
Ensembl chr  X:156,783,776...156,802,450 		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 6:75,711,199...75,774,636
Ensembl chr 6:75,711,515...75,774,636 		JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,034,023...65,042,336
Ensembl chr 7:65,034,144...65,042,336 		JBrowse link
G Arhgef25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:64,891,260...64,898,382
Ensembl chr 7:64,890,879...64,898,697 		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 5:62,548,300...62,551,870
Ensembl chr 5:62,548,303...62,551,870 		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 chr 5:61,685,511...61,692,821
Ensembl chr 5:61,685,511...61,692,821 		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 8:84,660,166...84,683,012
Ensembl chr 8:119,691,942...119,692,385
Ensembl chr 8:119,691,942...119,692,385 		JBrowse link
G Arsi arylsulfatase family, member I ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 NCBI chr18:56,634,556...56,642,168
Ensembl chr18:56,625,487...56,642,168 		JBrowse link
G Ash2l ASH2 like histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:72,943,527...72,966,791
Ensembl chr16:72,944,949...72,967,839 		JBrowse link
G Atg7 autophagy related 7 IEP RGD PMID:23055316 RGD:11557990 NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:149,391,390...149,598,319 		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 6:94,113,149...94,210,955
Ensembl chr 6:94,112,877...94,211,219 		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 8:84,575,360...84,653,103
Ensembl chr 8:84,575,370...84,653,091 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:62,056,654...62,070,338
Ensembl chr 5:62,056,654...62,064,613 		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:156,367,582...156,464,085
Ensembl chr  X:156,367,852...156,438,153 		JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:1,100,058...1,106,461
Ensembl chr 7:1,099,860...1,106,462 		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:157,231,243...157,238,323
Ensembl chr  X:157,225,327...157,238,323 		JBrowse link
G Avpr2 arginine 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:156,785,009...156,787,477
Ensembl chr  X:156,785,139...156,787,477 		JBrowse link
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:24103911 More... NCBI chr 7:64,873,909...64,881,512
Ensembl chr 7:64,874,022...64,881,516 		JBrowse link
G Bag4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:72,991,407...73,008,620
Ensembl chr16:72,991,362...73,013,273 		JBrowse link
G Baz2a bromodomain adjacent to zinc finger domain, 2A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:1,107,377...1,145,507
Ensembl chr 7:1,107,796...1,145,507 		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:156,548,911...156,581,002
Ensembl chr  X:156,548,911...156,579,371 		JBrowse link
G Bcar1 BCAR1 scaffold protein, Cas family member ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:56,588,500...56,623,190
Ensembl chr19:56,588,500...56,623,190 		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 8:84,987,833...84,993,878
Ensembl chr 8:84,987,833...84,993,872 		JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:soleus muscle RGD PMID:23055316 RGD:11557990 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,731,650...86,747,002 		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:156,348,633...156,360,797
Ensembl chr  X:156,348,615...156,360,799 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:26998597 PMID:28492532 NCBI chr17:15,449,011...15,511,423
Ensembl chr17:15,435,894...15,511,305 		JBrowse link
G Birc6 baculoviral IAP repeat-containing 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 6:26,474,843...26,668,275
Ensembl chr 6:26,474,843...26,668,507 		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 9:2,073,927...2,076,469
Ensembl chr 9:2,073,184...2,084,185 		JBrowse link
G Brf2 BRF2 general transcription factor 3B subunit ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:71,626,146...71,635,909
Ensembl chr16:71,623,238...71,635,903 		JBrowse link
G C10h1orf35 similar to human chromosome 1 open reading frame 35 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 More... NCBI chr10:44,494,385...44,496,847
Ensembl chr10:44,494,385...44,496,847 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:62,558,823...62,565,626 		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 5:62,545,273...62,548,711
Ensembl chr 5:62,544,714...62,548,709 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:63,002,427...63,004,314
Ensembl chr 5:63,000,138...63,010,123 		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 chr 5:61,759,220...61,761,164
Ensembl chr 5:61,759,220...61,772,022 		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 chr 5:61,776,411...61,777,515
Ensembl chr 5:61,776,413...61,777,540 		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 chr 5:61,737,261...61,744,375
Ensembl chr 5:61,737,261...61,743,522 		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 chr10:64,144,560...64,145,723
Ensembl chr10:64,144,555...64,145,911 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:62,493,155...62,500,779
Ensembl chr 5:62,493,161...62,500,519 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:64,771,147...64,775,163 		JBrowse link
G Cfdp1 craniofacial development protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:56,627,596...56,733,099
Ensembl chr19:56,626,963...56,733,098 		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 5:62,471,246...62,477,812
Ensembl chr 5:62,470,367...62,478,198 		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 chr20:154,630...169,655
Ensembl chr20:154,255...169,648 		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 5:63,022,046...63,059,223
Ensembl chr 5:63,041,184...63,059,215 		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 chr18:139,382...147,037 JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:61,619,326...61,657,359
Ensembl chr 5:61,619,326...61,645,795 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 NCBI chr 6:74,766,485...74,780,504
Ensembl chr 6:74,766,419...74,780,502 		JBrowse link
G Cpt1c carnitine palmitoyltransferase 1c ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 NCBI chr 1:104,579,297...104,593,824
Ensembl chr 1:104,579,298...104,593,763 		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 5:62,613,652...62,619,019
Ensembl chr 5:62,613,638...62,619,500 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:148,567,674...148,568,972
Ensembl chr  X:148,567,674...148,568,968 		JBrowse link
G Ctrb1 chymotrypsinogen B1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:56,562,220...56,566,978
Ensembl chr19:56,562,220...56,566,978 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More... NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:63,449,148...63,476,917 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:615030 PMID:14660610 PMID:16199547 PMID:23176821 PMID:25558065 More... NCBI chr 2:222,523,516...222,541,055
Ensembl chr 2:222,523,518...222,541,124 		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 2:102,419,011...102,586,047
Ensembl chr 2:102,419,011...102,451,804 		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 chr 5:61,256,353...61,278,155
Ensembl chr 5:61,256,353...61,278,119 		JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:64,977,338...64,992,875
Ensembl chr 7:64,977,363...64,992,873 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:61,676,950...61,684,958
Ensembl chr 5:61,676,950...61,684,903 		JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:73,022,136...73,051,746
Ensembl chr16:73,022,193...73,051,745 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:65,005,501...65,006,509 		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:157,751,651...157,757,796
Ensembl chr  Y:380,743...385,405
Ensembl chr  X:380,743...385,405 		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 8:63,637,314...63,803,911
Ensembl chr 8:63,637,314...63,781,116 		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 chr 5:61,526,079...61,596,806
Ensembl chr 5:61,525,999...61,596,810 		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 5:61,972,637...61,981,887
Ensembl chr 5:61,972,706...61,981,860 		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:157,208,230...157,216,812
Ensembl chr  X:157,208,230...157,216,711 		JBrowse link
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 6:26,872,812...26,893,580
Ensembl chr 6:26,872,732...26,894,930 		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 6:75,185,496...75,191,774
Ensembl chr 6:75,156,201...75,191,774 		JBrowse link
G Dtx3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:64,898,693...64,904,636
Ensembl chr 7:64,898,866...64,903,752 		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:156,503,237...156,507,162
Ensembl chr  X:156,503,190...156,507,161 		JBrowse link
G Eef1akmt3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:64,738,726...64,749,904
Ensembl chr 7:64,740,232...64,750,055 		JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr20:21,050,149...21,055,201
Ensembl chr20:21,050,149...21,057,748 		JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:71,495,457...71,508,845
Ensembl chr16:71,487,930...71,508,874 		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:157,190,438...157,193,479
Ensembl chr  X:157,189,819...157,197,095 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:61,596,860...61,598,657
Ensembl chr 5:61,596,860...61,598,657 		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 chr16:71,720,486...71,736,999
Ensembl chr16:71,721,364...71,736,503 		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 chr18:155,237...187,186
Ensembl chr18:155,309...186,683 		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:155,977,859...155,979,373
Ensembl chr  X:155,976,941...156,108,974 		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 chr19:56,222,240...56,273,480
Ensembl chr19:56,222,242...56,273,623 		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 chr 5:61,475,185...61,525,749
Ensembl chr 5:61,475,185...61,525,749 		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 5:62,706,118...62,715,339
Ensembl chr 5:62,706,122...62,715,137 		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:157,317,993...157,326,640
Ensembl chr  X:157,317,990...157,326,612 		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:157,246,533...157,253,650
Ensembl chr  X:157,246,533...157,253,650 		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 5:62,027,494...62,037,202
Ensembl chr 5:62,027,500...62,035,787 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		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:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Foxo4 forkhead box O4 IEP protein:increased expression:skeletal muscle: RGD PMID:18236467 RGD:5509082 NCBI chr  X:70,425,218...70,432,120
Ensembl chr  X:70,425,563...70,432,120 		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 chr18:142,829...155,123
Ensembl chr18:142,640...155,674 		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 6:74,498,801...74,530,703
Ensembl chr 6:74,503,109...74,528,198 		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:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:61,722,871...61,726,128
Ensembl chr 5:61,722,466...61,726,125 		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 5:62,618,176...62,630,160
Ensembl chr 5:62,618,177...62,630,308 		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:157,238,900...157,245,562
Ensembl chr  X:157,238,892...157,245,560 		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 chr10:44,462,203...44,470,924
Ensembl chr10:44,462,054...44,470,340 		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 8:63,575,270...63,619,346
Ensembl chr 8:63,575,270...63,619,346 		JBrowse link
G Glg1 golgi glycoprotein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:56,034,248...56,133,538
Ensembl chr19:56,006,459...56,133,528 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:65,042,237...65,054,540 		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 5:62,966,163...62,998,016
Ensembl chr 5:62,966,195...62,998,716 		JBrowse link
G Gls2 glutaminase 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:1,201,757...1,218,014
Ensembl chr 7:1,201,838...1,218,013 		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 8:84,956,629...84,985,576
Ensembl chr 8:84,953,815...84,986,888 		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 5:63,062,953...63,103,320
Ensembl chr 5:63,062,850...63,103,251 		JBrowse link
G Got1l1 glutamic-oxaloacetic transaminase 1-like 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:71,563,562...71,576,446
Ensembl chr16:71,563,534...71,570,468 		JBrowse link
G Gpr182 G protein-coupled receptor 182 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,471,254...65,474,110
Ensembl chr 7:65,452,965...65,474,998 		JBrowse link
G Gpr33-ps1 G protein-coupled receptor 33, pseudogene 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 NCBI chr 6:75,209,776...75,210,781
Ensembl chr 6:75,209,776...75,210,781 		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 5:64,029,856...64,039,287
Ensembl chr 5:64,022,368...64,039,276 		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 chr10:44,471,075...44,488,332
Ensembl chr10:44,471,085...44,479,355 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:86,566,994...86,567,568
Ensembl chr  X:86,566,994...86,567,568 		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:156,306,320...156,331,940
Ensembl chr  X:156,306,320...156,352,158 		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:156,839,100...156,864,132
Ensembl chr  X:156,839,100...156,863,813 		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 6:75,057,226...75,155,207
Ensembl chr 6:75,057,226...75,155,120 		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 6:74,916,803...75,003,408
Ensembl chr 6:74,916,803...75,003,408 		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 5:62,700,383...62,702,638
Ensembl chr 5:62,700,384...62,702,915 		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 5:135,523,258...135,524,864
Ensembl chr 5:135,523,262...135,535,704 		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 5:62,778,112...62,778,954
Ensembl chr 5:62,778,112...62,778,954 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr  X:24,568,551...24,571,012
Ensembl chr  X:24,568,551...24,574,681 		JBrowse link
G Hsd17b6 hydroxysteroid (17-beta) dehydrogenase 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:831,407...850,950
Ensembl chr 7:831,421...850,873 		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 chr 9:64,073,610...64,084,332
Ensembl chr 9:64,073,611...64,084,037 		JBrowse link
G Htra4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:73,704,255...73,717,722
Ensembl chr16:73,704,184...73,717,722 		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 chr10:44,441,579...44,450,368
Ensembl chr10:44,441,579...44,450,368 		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:156,666,573...156,675,482
Ensembl chr  X:156,666,577...156,675,799 		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:157,358,279...157,397,563
Ensembl chr  X:157,367,639...157,392,757 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:61,727,931...61,737,264 		JBrowse link
G Il23a interleukin 23 subunit alpha ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:1,306,320...1,308,434
Ensembl chr 7:1,306,320...1,308,434 		JBrowse link
G Inhbc inhibin subunit beta C ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,069,450...65,082,919
Ensembl chr 7:65,069,451...65,082,919 		JBrowse link
G Inhbe inhibin subunit beta E ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,061,531...65,064,519
Ensembl chr 7:65,061,531...65,064,519 		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:24,734,202...24,816,566
Ensembl chr  X:24,734,246...24,816,566 		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:156,919,927...156,929,825
Ensembl chr  X:156,920,081...156,929,825 		JBrowse link
G Irf2bpl interferon regulatory factor 2 binding protein-like ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 NCBI chr 6:112,258,149...112,262,264
Ensembl chr 6:112,258,188...112,263,280 		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:24,821,568...24,866,423
Ensembl chr  X:24,824,859...24,866,423 		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 chr 9:101,010,447...101,094,891
Ensembl chr 9:101,010,447...101,094,777 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:61,357,078...61,423,882
Ensembl chr 5:61,357,940...61,399,379 		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 7:64,937,210...64,974,339
Ensembl chr 7:64,934,740...64,978,272 		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:156,748,597...156,775,116
Ensembl chr  X:156,748,597...156,775,077 		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:157,289,497...157,290,920 JBrowse link
G Ldhd lactate dehydrogenase D ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:56,492,827...56,497,695
Ensembl chr19:56,482,924...56,509,197 		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 8:85,080,036...85,104,471
Ensembl chr 8:85,079,996...85,105,094 		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 chr16:73,171,768...73,192,336
Ensembl chr16:73,167,727...73,192,373 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,265,639...65,346,196
Ensembl chr 7:65,265,639...65,346,196 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:72,980,075...72,991,581
Ensembl chr16:72,979,686...73,022,396 		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 8:85,259,443...85,274,876
Ensembl chr 8:85,259,410...85,275,241 		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 8:85,027,141...85,050,236
Ensembl chr 8:85,027,144...85,050,236 		JBrowse link
G Marchf9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:64,764,346...64,767,824
Ensembl chr 7:64,764,347...64,767,824 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,006,456...65,023,880
Ensembl chr 7:64,998,544...65,023,753 		JBrowse link
G Mbd6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:64,992,877...65,001,274
Ensembl chr 7:64,992,877...64,998,589 		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:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		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 5:63,336,151...63,396,254
Ensembl chr 5:63,336,106...63,396,247 		JBrowse link
G Mettl1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:64,750,189...64,754,531
Ensembl chr 7:64,750,198...64,754,639 		JBrowse link
G Mip major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:1,228,089...1,237,707
Ensembl chr 7:1,231,905...1,237,707 		JBrowse link
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:39,102,301...39,227,915
Ensembl chr15:39,102,115...39,227,914 		JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:56,186,860...56,213,886
Ensembl chr19:56,186,860...56,213,858 		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...
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 chr10:44,488,252...44,491,401
Ensembl chr10:44,488,244...44,491,401 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:62,634,721...62,635,771
Ensembl chr 5:62,634,721...62,635,970 		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 chr18:142,416...144,482
Ensembl chr18:140,152...146,517 		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 6:6,234,917...6,252,874
Ensembl chr 6:6,234,922...6,252,961 		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 chr12:37,922,532...37,936,219
Ensembl chr12:37,919,398...37,936,219 		JBrowse link
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,424,206...65,443,227
Ensembl chr 7:65,428,258...65,443,213 		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 8:84,692,524...84,860,564
Ensembl chr 8:84,692,910...84,856,265 		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 8:84,870,031...84,946,996
Ensembl chr 8:84,870,043...84,946,996 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:61,452,956...61,460,500
Ensembl chr 5:61,432,418...61,460,581 		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:156,807,378...156,812,632
Ensembl chr  X:156,807,378...156,812,574 		JBrowse link
G Nab2 Ngfi-A binding protein 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,382,863...65,389,527
Ensembl chr 7:65,382,863...65,389,255 		JBrowse link
G Naca nascent polypeptide associated complex subunit alpha ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:1,053,474...1,066,606
Ensembl chr 7:1,054,338...1,066,605 		JBrowse link
G Ndufa4l2 NDUFA4, mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,242,169...65,244,296
Ensembl chr 7:65,242,135...65,244,277 		JBrowse link
G Nemp1 nuclear envelope integral membrane protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,399,297...65,424,054
Ensembl chr 7:65,399,381...65,424,055 		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 chr 1:115,608,221...116,010,503
Ensembl chr 1:115,974,481...116,010,812 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:32581362 NCBI chr 6:26,743,658...26,771,783
Ensembl chr 6:26,743,698...26,770,563 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:61,055,863...61,083,249
Ensembl chr 5:61,055,863...61,083,264 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:Lumbar segment of spinal cord, bone marrow-derived macrophage (rat) RGD PMID:21959174 RGD:5509577 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880 		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 5:62,678,197...62,697,360
Ensembl chr 5:62,678,367...62,697,343 		JBrowse link
G Nsd3 nuclear receptor binding SET domain protein 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:73,056,748...73,170,082
Ensembl chr16:73,061,694...73,168,130 		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:155,817,301...155,848,224
Ensembl chr  X:155,817,340...155,848,220 		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 6:75,294,609...75,516,603
Ensembl chr 6:75,294,632...75,516,601 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:61,424,176...61,439,018
Ensembl chr 5:61,424,053...61,439,015 		JBrowse link
G Nxph4 neurexophilin 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,253,043...65,261,864
Ensembl chr 7:65,252,904...65,261,864 		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 chr10:44,273,686...44,419,275
Ensembl chr10:44,288,866...44,419,297 		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 8:84,480,066...84,507,848
Ensembl chr 8:84,480,305...84,508,124 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:157,056,355...157,076,716 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:62,876,908...62,877,867
Ensembl chr 5:62,876,908...62,877,867 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:62,757,159...62,758,097
Ensembl chr 5:62,757,159...62,758,097 		JBrowse link
G Os9 OS9, endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:64,802,517...64,829,185
Ensembl chr 7:64,802,103...64,829,070 		JBrowse link
G Pan2 poly(A) specific ribonuclease subunit PAN2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:1,313,654...1,332,252
Ensembl chr 7:1,313,655...1,332,252 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:63,554,784...63,741,380
Ensembl chr 5:63,560,722...63,739,987 		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:156,681,717...156,712,031
Ensembl chr  X:156,681,717...156,713,028 		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 5:61,939,261...61,966,879
Ensembl chr 5:61,939,900...61,966,875 		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 5:62,040,979...62,052,067
Ensembl chr 5:62,037,308...62,052,075 		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 7:64,905,322...64,920,380
Ensembl chr 7:64,905,328...64,920,373 		JBrowse link
G Plekha2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:73,641,338...73,704,068
Ensembl chr16:73,641,344...73,703,087 		JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:71,705,064...71,717,726
Ensembl chr16:71,700,028...71,717,726 		JBrowse link
G Plpp5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:73,052,204...73,056,609
Ensembl chr16:73,052,204...73,056,643 		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:157,266,986...157,282,896
Ensembl chr  X:157,267,107...157,282,891 		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:156,645,505...156,660,011
Ensembl chr  X:156,645,182...156,660,003 		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:156,520,751...156,524,828
Ensembl chr  X:156,520,753...156,525,352 		JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,946,428...155,952,761
Ensembl chr  X:155,948,069...155,955,308 		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:155,923,131...155,925,055
Ensembl chr  X:155,923,131...155,925,055 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:156,254,009...156,259,971
Ensembl chr  X:156,254,872...156,259,971 		JBrowse link
G Prim1 DNA primase subunit 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:1,031,436...1,047,134 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 6:73,460,640...73,774,433
Ensembl chr 6:73,460,640...73,836,509 		JBrowse link
G Prss3 serine protease 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 4:71,169,749...71,173,223
Ensembl chr 4:71,169,749...71,173,223 		JBrowse link
G Ptges3 prostaglandin E synthase 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:1,075,230...1,092,363
Ensembl chr 7:1,075,227...1,092,695 		JBrowse link
G R3hdm2 R3H domain containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,097,685...65,225,863
Ensembl chr 7:65,097,923...65,225,862 		JBrowse link
G Rab11fip1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:71,589,753...71,620,341
Ensembl chr16:71,589,753...71,620,341 		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 7:1,145,240...1,201,690
Ensembl chr 7:1,149,032...1,185,004 		JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18394578 PMID:19805727 PMID:28492532 NCBI chr 6:103,712,373...103,728,247
Ensembl chr 6:103,712,374...103,729,741 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18394578 PMID:19805727 PMID:28492532 NCBI chr 6:103,748,457...103,761,379
Ensembl chr 6:103,748,427...103,761,380 		JBrowse link
G Rdh16 retinol dehydrogenase 16 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,499,763...65,510,304 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 5:62,898,717...62,965,274
Ensembl chr 5:62,898,668...62,965,270 		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 4:105,303,974...105,420,611
Ensembl chr 4:105,303,969...105,420,602 		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:156,812,785...156,821,860
Ensembl chr  X:156,812,411...156,821,838 		JBrowse link
G Rfwd3 ring finger and WD repeat domain 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:56,145,221...56,177,871
Ensembl chr19:56,145,221...56,177,815 		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 5:62,630,253...62,638,872
Ensembl chr 5:62,630,133...62,638,864 		JBrowse link
G Ribc1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr  X:24,571,126...24,583,170
Ensembl chr  X:24,570,499...24,582,789 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:31636353 NCBI chr16:72,631,638...72,656,893
Ensembl chr16:72,631,638...72,656,469 		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 5:63,154,507...63,263,138
Ensembl chr 5:63,154,507...63,263,137 		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:157,205,850...157,208,057
Ensembl chr  X:157,205,836...157,208,049 		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 chr 5:61,674,299...61,675,844
Ensembl chr 5:61,672,199...61,675,168 		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 1:88,063,124...88,076,082
Ensembl chr 1:88,063,119...88,076,043 		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 5:62,424,185...62,471,317
Ensembl chr 5:62,444,665...62,471,314 		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 chr15:39,461,853...39,546,419
Ensembl chr15:39,472,905...39,546,419 		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 6:74,531,225...74,609,463
Ensembl chr 6:74,531,276...74,633,750 		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 8:85,280,253...85,322,484
Ensembl chr 8:85,280,253...85,361,874 		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 7:65,588,726...65,607,534
Ensembl chr 7:65,593,000...65,605,630 		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 3:32,825,771...32,878,740
Ensembl chr 3:32,828,412...32,878,740 		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 chr15:39,564,920...39,611,149
Ensembl chr15:39,564,923...39,611,149 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,244,247...65,249,580
Ensembl chr 7:65,244,247...65,249,567 		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 chr 5:61,700,021...61,702,799
Ensembl chr 5:61,700,021...61,702,855 		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 5:62,536,003...62,538,230
Ensembl chr 5:62,536,009...62,537,911 		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:157,306,043...157,309,849
Ensembl chr  X:157,303,915...157,309,793 		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:72,791,096...72,914,299
Ensembl chr  X:72,781,876...72,914,498 		JBrowse link
G Slc19a3 solute carrier family 19 member 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 NCBI chr 9:91,723,799...91,747,499
Ensembl chr 9:91,724,718...91,754,991 		JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:32581362 NCBI chr 6:26,772,804...26,802,656
Ensembl chr 6:26,772,804...26,802,656 		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 chr 2:150,565,327...150,587,700
Ensembl chr 2:150,565,328...150,587,416 		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:156,536,017...156,545,321
Ensembl chr  X:156,536,017...156,545,321 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr  X:24,582,732...24,627,462
Ensembl chr  X:24,582,690...24,627,462 		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 5:62,697,451...62,699,664
Ensembl chr 5:62,693,122...62,699,664 		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 6:26,807,220...26,858,456
Ensembl chr 6:26,807,220...26,858,446 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:61,861,587...61,867,724
Ensembl chr 5:61,861,071...61,878,519 		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 5:61,995,800...61,999,889
Ensembl chr 5:61,995,800...61,999,889 		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 3:129,453,118...129,526,469
Ensembl chr 3:129,461,477...129,526,742 		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 chr 5:61,462,070...61,474,832
Ensembl chr 5:61,462,070...61,474,774 		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 3:134,602,684...134,646,752
Ensembl chr 3:134,605,750...134,646,752 		JBrowse link
G Spryd4 SPRY domain containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:1,217,984...1,222,231
Ensembl chr 7:1,218,122...1,219,942 		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:156,661,888...156,666,537
Ensembl chr  X:156,661,875...156,666,531 		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:156,675,658...156,679,545
Ensembl chr  X:156,675,566...156,679,543 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,227,151...65,235,884
Ensembl chr 7:65,228,352...65,235,878 		JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:72,969,824...72,974,447
Ensembl chr16:72,961,518...72,974,447 		JBrowse link
G Stat2 signal transducer and activator of transcription 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,365,505...65,382,825
Ensembl chr 7:65,365,306...65,383,795 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:62,052,042...62,055,639
Ensembl chr 5:62,052,045...62,055,670 		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 6:74,783,156...74,869,473
Ensembl chr 6:74,783,156...74,869,473 		JBrowse link
G Tac3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,447,817...65,454,427
Ensembl chr 7:65,447,817...65,454,427 		JBrowse link
G Tacc1 transforming, acidic coiled-coil containing protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:73,515,016...73,598,395
Ensembl chr16:73,514,889...73,598,394 		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:157,216,826...157,230,524
Ensembl chr  X:157,216,554...157,225,287 		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 4:159,707,686...159,715,137
Ensembl chr 4:159,708,511...159,715,137 		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 5:62,487,763...62,493,492
Ensembl chr 5:62,487,763...62,493,492 		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:157,076,824...157,110,988
Ensembl chr  X:157,076,609...157,093,768 		JBrowse link
G Timeless timeless circadian regulator ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:1,239,388...1,263,344
Ensembl chr 7:1,239,450...1,263,337 		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:157,105,455...157,138,510
Ensembl chr  X:157,105,495...157,138,503 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:62,583,730...62,613,687
Ensembl chr 5:62,583,731...62,613,687 		JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:73,719,331...73,724,853
Ensembl chr16:73,719,332...73,724,981 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:62,715,238...62,744,187
Ensembl chr 5:62,715,203...62,744,174 		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 chr20:96,561...144,414
Ensembl chr20:107,516...144,543 		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 8:85,197,222...85,250,627
Ensembl chr 8:85,196,226...85,246,371 		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 8:85,131,295...85,191,477
Ensembl chr 8:85,131,299...85,191,341 		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 8:63,309,683...63,351,687
Ensembl chr 8:63,310,107...63,318,501 		JBrowse link
G Tnfrsf19 TNF receptor superfamily member 19 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:39,268,305...39,334,566
Ensembl chr15:39,268,305...39,356,438 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:62,566,652...62,575,726 		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:156,303,203...156,304,811
Ensembl chr  X:156,303,203...156,304,811 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:64,714,330...64,750,106
Ensembl chr 7:64,714,036...64,750,171 		JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:64,774,881...64,783,534
Ensembl chr 7:64,774,910...64,777,726 		JBrowse link
G Ttc27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 6:26,310,696...26,454,045
Ensembl chr 6:25,781,638...26,454,036 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:61,316,650...61,357,077
Ensembl chr 5:61,316,643...61,357,076 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:61,144,182...61,233,355
Ensembl chr 5:61,144,182...61,232,828 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332916 PMID:23332917 PMID:28492532 NCBI chr 5:61,082,552...61,141,099
Ensembl chr 5:61,082,552...61,141,452 		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:157,302,528...157,305,380
Ensembl chr  X:157,304,254...157,305,380 		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 5:62,084,809...62,299,884
Ensembl chr 5:62,084,819...62,299,884 		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 4:159,698,894...159,705,582
Ensembl chr 4:159,698,629...159,713,608 		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...
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 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387 		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 7:92,773,625...92,825,532
Ensembl chr 7:92,773,625...92,825,532 		JBrowse link
G Wdr59 WD repeat domain 59 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:56,321,529...56,393,195
Ensembl chr19:56,325,438...56,393,132 		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 8:83,718,897...83,902,128
Ensembl chr 8:83,718,914...83,900,286 		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 chr10:44,533,734...44,577,919
Ensembl chr10:44,533,734...44,577,919 		JBrowse link
G Yipf4 Yip1 domain family, member 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 6:26,702,647...26,714,066
Ensembl chr 6:26,682,488...26,714,066 		JBrowse link
G Zbtb39 zinc finger and BTB domain containing 39 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:65,462,255...65,469,806
Ensembl chr 7:65,462,018...65,485,601 		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 5:63,787,292...63,968,960
Ensembl chr 5:63,788,217...63,968,549 		JBrowse link
G Zfp1 zinc finger protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:56,508,828...56,542,109
Ensembl chr19:56,509,280...56,542,773 		JBrowse link
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,874,138...155,919,921
Ensembl chr  X:155,874,127...155,917,077 		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:156,268,220...156,293,790
Ensembl chr  X:156,268,234...156,294,516 		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 6:103,764,864...103,828,520
Ensembl chr 6:103,765,510...103,828,463 		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 chr 1:250,929,110...250,952,481
Ensembl chr 1:250,928,012...250,952,481 		JBrowse link
G Znrf1 zinc and ring finger 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:56,403,816...56,490,901
Ensembl chr19:56,405,728...56,490,881 		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 chr 2:118,851,497...118,875,813
Ensembl chr 2:118,869,413...118,873,781 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE ClinVar PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO
ISS 		ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
OMIM:258501
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 1:88,007,707...88,037,639
Ensembl chr 1:88,025,696...88,028,657
Ensembl chr 1:88,025,696...88,028,657 		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 chr 3:79,218,014...79,220,664
Ensembl chr 3:79,218,014...79,220,664 		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:24,734,202...24,816,566
Ensembl chr  X:24,734,246...24,816,566 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:11586297 PMID:11586298 PMID:12145748 PMID:12509863 More... NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:68,107,528...68,179,660 		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 chr 9:68,063,867...68,103,050
Ensembl chr 9:68,063,867...68,106,128 		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 chr 9:68,027,481...68,066,731
Ensembl chr 9:68,030,664...68,063,525 		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 PMID:34489854 NCBI chr20:3,723,756...3,738,617
Ensembl chr20:3,723,757...3,738,736 		JBrowse link
G Adam28 ADAM metallopeptidase domain 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr15:50,184,286...50,250,605
Ensembl chr15:50,127,516...50,250,526 		JBrowse link
G Adgrb2 adhesion G protein-coupled receptor B2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 5:147,581,573...147,646,726
Ensembl chr 5:147,611,580...147,646,726 		JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Hereditary spastic paraplegia 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:26026163 RGD:13434921 NCBI chr 1:249,325,082...249,357,383
Ensembl chr 1:249,325,082...249,357,383 		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 chr 9:68,107,310...68,180,192
Ensembl chr 9:68,107,528...68,179,660 		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 2:198,395,767...198,408,514
Ensembl chr 2:198,395,768...198,408,796 		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 2:194,006,926...194,018,971
Ensembl chr 2:194,006,919...194,018,968 		JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia 		ClinVar PMID:18414213 PMID:25741868 PMID:26350204 PMID:26544806 PMID:28492532 NCBI chr 3:134,726,338...134,792,820
Ensembl chr 3:134,726,287...134,792,818 		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 chr12:22,163,474...22,171,734
Ensembl chr12:22,163,466...22,171,731 		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 6:74,863,742...74,916,907
Ensembl chr 6:74,868,558...74,912,406 		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 1:212,305,612...212,309,643
Ensembl chr 1:212,305,604...212,309,629 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO DNA:mutations: :
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive 		ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24833714 More... RGD:9684952 NCBI chr12:17,207,315...17,222,975
Ensembl chr12:17,207,315...17,222,467 		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 7:65,034,023...65,042,336
Ensembl chr 7:65,034,144...65,042,336 		JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:94,250,492...94,376,589
Ensembl chr 9:94,250,859...94,376,589 		JBrowse link
G Arsi arylsulfatase family, member I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr18:56,634,556...56,642,168
Ensembl chr18:56,625,487...56,642,168 		JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:15596607 More... NCBI chr 6:94,113,149...94,210,955
Ensembl chr 6:94,112,877...94,211,219 		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 chr 9:94,404,197...94,408,148
Ensembl chr 9:94,404,135...94,408,147 		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 chr17:15,449,011...15,511,423
Ensembl chr17:15,435,894...15,511,305 		JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 ISS MouseDO NCBI chr 1:255,505,745...255,519,579
Ensembl chr 1:255,505,745...255,518,815 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO SPG17, OMIM:270685, DNA:point mutation:exon:N88S
ClinVar Annotator: match by term: Hereditary spastic paraplegia 		ClinVar
RGD		 PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 More... RGD:1600602 NCBI chr 1:215,160,764...215,172,540
Ensembl chr 1:215,160,957...215,172,536 		JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21981780 PMID:23269600 PMID:24361204 PMID:25558065 PMID:25741868 More... NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:100,010,323...100,023,903 		JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 2:84,302,621...84,313,773
Ensembl chr 2:84,302,623...84,313,779 		JBrowse link
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:112,041,586...112,093,061
Ensembl chr 8:112,041,594...112,084,646 		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 chr 1:255,585,063...255,709,455
Ensembl chr 1:255,585,095...255,704,849 		JBrowse link
G Cpt1c carnitine palmitoyltransferase 1c ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:104,579,297...104,593,824
Ensembl chr 1:104,579,298...104,593,763 		JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:14660610 PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 More... NCBI chr 2:222,523,516...222,541,055
Ensembl chr 2:222,523,518...222,541,124 		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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 2:102,419,011...102,586,047
Ensembl chr 2:102,419,011...102,451,804 		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 2:193,998,350...194,006,873
Ensembl chr 2:193,998,354...194,006,864 		JBrowse link
G Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23176821 PMID:24989667 PMID:25741868 PMID:26944165 PMID:27216551 More... NCBI chr15:21,304,053...21,370,608
Ensembl chr15:21,303,826...21,370,608 		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 chr16:73,022,136...73,051,746
Ensembl chr16:73,022,193...73,051,745 		JBrowse link
G Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 5:159,355,279...159,389,267
Ensembl chr 5:159,361,314...159,389,298 		JBrowse link
G Dstyk dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: Complex hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr13:46,409,412...46,457,426
Ensembl chr13:46,409,412...46,457,424 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar NCBI chr 3:129,438,715...129,460,953
Ensembl chr 3:129,438,722...129,462,246 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:249,374,810...249,502,310
Ensembl chr 1:249,374,836...249,502,317 		JBrowse link
G Erlin1 ER lipid raft associated 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:252,870,356...252,905,681
Ensembl chr 1:252,870,356...252,905,947 		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 chr16:71,720,486...71,736,999
Ensembl chr16:71,721,364...71,736,503 		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 chr19:56,222,240...56,273,480
Ensembl chr19:56,222,242...56,273,623 		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 1:142,736,636...142,792,999
Ensembl chr 1:142,736,653...142,792,999 		JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:213,704,983...213,782,958
Ensembl chr 1:213,704,038...213,782,981 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:20593214 PMID:23332916 PMID:23332917 PMID:25741868 PMID:26220345 More... NCBI chr 5:62,618,176...62,630,160
Ensembl chr 5:62,618,177...62,630,308 		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 chr10:44,462,203...44,470,924
Ensembl chr10:44,462,054...44,470,340 		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 		ClinVar
RGD		 PMID:11898127 PMID:17072495 PMID:18414213 PMID:19423133 PMID:19494379 More... RGD:1624200, RGD:1624200 NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:64,073,611...64,084,037 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,420,415...18,433,222 		JBrowse link
G Kif1a kinesin family member 1A ISO DNA:missense mutations: :p.V8M, p.I27T (human)
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
RGD		 PMID:9536098 PMID:17576681 PMID:21376300 PMID:22258533 PMID:25265257 More... RGD:12911231 NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:101,010,447...101,094,777 		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 chr10:55,913,010...55,942,220
Ensembl chr10:55,913,093...55,942,220 		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 7:64,937,210...64,974,339
Ensembl chr 7:64,934,740...64,978,272 		JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:111,965,862...112,005,206
Ensembl chr 8:111,965,862...112,005,206 		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:156,748,597...156,775,116
Ensembl chr  X:156,748,597...156,775,077 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 6:93,900,427...93,941,534
Ensembl chr 6:93,900,427...93,941,534 		JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:213,675,413...213,831,571
Ensembl chr 1:213,675,406...213,816,348 		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 1:95,275,728...95,291,133
Ensembl chr 1:95,275,635...95,291,060 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28832565 NCBI chr 7:65,006,456...65,023,880
Ensembl chr 7:64,998,544...65,023,753 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:6,357,851...6,372,151
Ensembl chr12:6,357,807...6,372,151 		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 chr10:92,184,002...92,205,001
Ensembl chr10:92,187,479...92,205,003 		JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:37,922,532...37,936,219
Ensembl chr12:37,919,398...37,936,219 		JBrowse link
G Myt1 myelin transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 3:189,263,569...189,327,844
Ensembl chr 3:189,263,467...189,327,844 		JBrowse link
G Ncl nucleolin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:94,447,559...94,456,083
Ensembl chr 9:94,446,682...94,456,083 		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 chr 1:115,608,221...116,010,503
Ensembl chr 1:115,974,481...116,010,812 		JBrowse link
G Nmur1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:94,480,002...94,486,147
Ensembl chr 9:94,481,248...94,485,428 		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 chr 2:62,592,557...62,660,497
Ensembl chr 2:62,597,668...62,660,066 		JBrowse link
G Nrg1 neuregulin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr16:65,954,084...67,007,484
Ensembl chr16:65,953,865...66,999,849 		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 chr 1:255,712,797...255,838,285
Ensembl chr 1:255,713,909...255,838,403 		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 chr 9:63,470,023...63,538,772
Ensembl chr 9:63,470,024...63,538,772 		JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 5:167,860,730...167,904,229
Ensembl chr 5:167,860,794...167,904,229 		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:104,933,921...104,993,317
Ensembl chr  X:104,975,780...104,993,314 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20382209 PMID:20603202 More... NCBI chr12:6,372,284...6,401,632
Ensembl chr12:6,372,293...6,401,631 		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 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		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 chr10:92,212,303...92,222,849
Ensembl chr10:92,212,304...92,222,726 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 NCBI chr  X:17,275,445...17,280,018
Ensembl chr  X:17,275,759...17,280,016 		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:105,013,178...105,023,872
Ensembl chr  X:105,013,104...105,034,319 		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 4:105,303,974...105,420,611
Ensembl chr 4:105,303,969...105,420,602 		JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 2:78,045,435...78,205,316
Ensembl chr 2:78,066,031...78,225,356 		JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:88,063,124...88,076,082
Ensembl chr 1:88,063,119...88,076,043 		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 chr15:39,461,853...39,546,419
Ensembl chr15:39,472,905...39,546,419 		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 3:32,825,771...32,878,740
Ensembl chr 3:32,828,412...32,878,740 		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:72,791,096...72,914,299
Ensembl chr  X:72,781,876...72,914,498 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 1:86,584,949...86,599,052
Ensembl chr 1:86,584,949...86,599,054 		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 chr 2:150,565,327...150,587,700
Ensembl chr 2:150,565,328...150,587,416 		JBrowse link
G Snora75 small nucleolar RNA, H/ACA box 75 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:94,448,219...94,448,355
Ensembl chr 9:94,448,219...94,448,355 		JBrowse link
G Snord20 small nucleolar RNA, C/D box 20 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:94,449,039...94,449,118
Ensembl chr 9:94,449,039...94,449,118 		JBrowse link
G Snord82 small nucleolar RNA, C/D box 82 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:94,452,486...94,452,557
Ensembl chr 9:94,452,486...94,452,557 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Complex hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 8:51,238,713...51,401,458
Ensembl chr 8:51,238,722...51,401,446 		JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:141,442,770...141,469,388
Ensembl chr 2:141,442,737...141,469,382 		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 PMID:9536098 PMID:10610178 PMID:10699187 PMID:11015453 PMID:11039577 More... NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:26,807,220...26,858,446 		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 3:129,453,118...129,526,469
Ensembl chr 3:129,461,477...129,526,742 		JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin susceptibility ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar
RGD		 PMID:6024251 PMID:14564668 PMID:16199547 PMID:25741868 PMID:26467025 More... RGD:1556574 NCBI chr 8:74,876,136...74,903,676
Ensembl chr 8:74,876,136...74,903,676 		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 3:33,639,020...33,703,890
Ensembl chr 3:33,607,210...33,703,889 		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 chr 2:62,735,379...62,747,545
Ensembl chr 2:62,732,736...62,747,679 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:23176824 PMID:25590979 PMID:25741868 More... NCBI chr 6:135,720,765...135,823,187
Ensembl chr 6:135,720,656...135,823,187 		JBrowse link
G Tex44 testis expressed 44 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9373798 NCBI chr 9:94,523,649...94,525,067
Ensembl chr 9:94,523,640...94,526,154 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More... NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:253,817,564...253,824,162 		JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:134,465,469...134,488,859
Ensembl chr 3:134,464,499...134,488,816 		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 3:134,413,832...134,463,040
Ensembl chr 3:134,415,391...134,463,032 		JBrowse link
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:58,434,802...58,478,777
Ensembl chr16:58,440,950...58,478,831 		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 7:92,773,625...92,825,532
Ensembl chr 7:92,773,625...92,825,532 		JBrowse link
G Wdr48 WD repeat domain 48 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28832565 NCBI chr 8:128,499,721...128,532,930
Ensembl chr 8:128,499,716...128,532,930 		JBrowse link
G Zfr zinc finger RNA binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 2:62,864,333...62,927,377
Ensembl chr 2:62,864,338...62,929,133 		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 6:103,764,864...103,828,520
Ensembl chr 6:103,765,510...103,828,463 		JBrowse link
hereditary spastic paraplegia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:94,113,149...94,210,955
Ensembl chr 6:94,112,877...94,211,219 		JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr16:71,720,486...71,736,999
Ensembl chr16:71,721,364...71,736,503 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:64,073,611...64,084,037 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R280C (human)
DNA:missense mutation:cds:p.L259Q (human)
DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human)
DNA:missense mutation:cds:p.R162W (human)
DNA:missense mutation:cds:p.N256S (human)
DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human) 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... RGD:12793060, RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061 NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:64,934,740...64,978,272 		JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:115,608,221...116,010,503
Ensembl chr 1:115,974,481...116,010,812 		JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 4:105,303,974...105,420,611
Ensembl chr 4:105,303,969...105,420,602 		JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:88,063,124...88,076,082
Ensembl chr 1:88,063,119...88,076,043 		JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:150,565,327...150,587,700
Ensembl chr 2:150,565,328...150,587,416 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:26,807,220...26,858,446 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 7:92,773,625...92,825,532
Ensembl chr 7:92,773,625...92,825,532 		JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 1:250,929,110...250,952,481
Ensembl chr 1:250,928,012...250,952,481 		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 3:129,549,236...129,555,354
Ensembl chr 3:129,549,318...129,555,356 		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 chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr16:7,663,665...7,723,416
Ensembl chr16:7,663,665...7,723,416 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar NCBI chr 3:129,438,715...129,460,953
Ensembl chr 3:129,438,722...129,462,246 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr15:22,884,006...22,917,412
Ensembl chr15:22,884,006...22,917,412 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:26556829 PMID:28492532 NCBI chr 3:129,526,563...129,543,267
Ensembl chr 3:129,527,845...129,537,486 		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 chr 3:71,360,840...71,479,870
Ensembl chr 3:71,360,841...71,479,791 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum ClinVar PMID:21507300 PMID:23053473 PMID:24069319 PMID:25741868 PMID:28492532 NCBI chr 4:35,145,721...35,328,403
Ensembl chr 4:35,145,721...35,328,360 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO
ISS 		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum
CTD Direct Evidence: marker/mechanism
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
OMIM:604360
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
CTD
MouseDO		 PMID:2223744 PMID:2795747 PMID:3283541 PMID:9536098 PMID:16199547 More... NCBI chr 3:129,453,118...129,526,469
Ensembl chr 3:129,461,477...129,526,742 		JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr 3:66,758,805...66,769,626
Ensembl chr 3:66,759,803...66,769,626 		JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 3:129,565,060...129,585,629
Ensembl chr 3:129,564,934...129,585,629 		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 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 ClinVar PMID:25741868 NCBI chr 1:88,057,365...88,062,912
Ensembl chr 1:88,058,624...88,060,700 		JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 | ClinVar Annotator: match by term: RTN2-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10677333 PMID:12427890 PMID:22232211 PMID:24123792 PMID:25741868 More... NCBI chr 1:88,063,124...88,076,082
Ensembl chr 1:88,063,119...88,076,043 		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
ISS 		ClinVar Annotator: match by term: Hereditary spastic paraplegia 13
OMIM:605280
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:10677329 PMID:12483302 PMID:17072495 PMID:17420924 PMID:18414213 More... RGD:10402832 NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:64,073,611...64,084,037 		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
ISS 		ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: ZFYVE26-related condition
OMIM:270700
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 More... NCBI chr 6:103,764,864...103,828,520
Ensembl chr 6:103,765,510...103,828,463 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1674639 PMID:5964029 PMID:11479539 PMID:14557463 PMID:14981520 More... NCBI chr 1:215,160,764...215,172,540
Ensembl chr 1:215,160,957...215,172,536 		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 chr11:44,336,818...44,409,127
Ensembl chr11:44,377,976...44,409,127 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 More... NCBI chr16:71,720,486...71,736,999
Ensembl chr16:71,721,364...71,736,503 		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:104,874,850...104,885,946
Ensembl chr  X:104,852,693...104,892,855 		JBrowse link
G Plp1 proteolipid protein 1 ISO
ISS 		ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED
OMIM:312920
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1047279 PMID:1384324 PMID:1720927 PMID:2479017 PMID:2480601 More... NCBI chr  X:104,933,921...104,993,317
Ensembl chr  X:104,975,780...104,993,314 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED ClinVar PMID:1047279 PMID:1384324 PMID:2479017 PMID:2480601 PMID:2773936 More... NCBI chr  X:105,013,178...105,023,872
Ensembl chr  X:105,013,104...105,034,319 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:25741868 NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:26,807,220...26,858,446 		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:104,850,775...104,852,724
Ensembl chr  X:104,850,136...104,853,085 		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:104,802,966...104,804,926
Ensembl chr  X:104,802,806...104,805,331 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 More... NCBI chr13:46,409,412...46,457,426
Ensembl chr13:46,409,412...46,457,424 		JBrowse link
hereditary spastic paraplegia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: B4GALNT1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 26
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:25741868 More... NCBI chr 7:64,873,909...64,881,512
Ensembl chr 7:64,874,022...64,881,516 		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 chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 More... NCBI chr15:21,304,053...21,370,608
Ensembl chr15:21,303,826...21,370,608 		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 chr 9:101,122,793...101,132,746
Ensembl chr 9:101,122,793...101,132,745 		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 chr 9:100,869,899...100,924,030
Ensembl chr 9:100,871,373...100,924,229 		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 chr 9:101,364,915...101,392,711
Ensembl chr 9:101,364,842...101,394,173 		JBrowse link
G Aqp12a aquaporin 12A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:101,001,939...101,007,425
Ensembl chr 9:101,001,939...101,007,425 		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 chr 9:99,566,852...99,588,321
Ensembl chr 9:99,567,867...99,583,907 		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 chr 9:101,729,772...101,761,456
Ensembl chr 9:101,726,782...101,761,622 		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 chr 9:101,670,729...101,681,834
Ensembl chr 9:101,670,625...101,681,833 		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 chr 9:100,943,665...100,957,910
Ensembl chr 9:100,945,551...100,957,912 		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 chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990 		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 chr 9:100,657,276...100,662,206
Ensembl chr 9:100,657,276...100,662,206 		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 chr 9:101,796,287...101,815,727
Ensembl chr 9:101,797,895...101,815,727 		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 chr 9:101,762,899...101,771,733
Ensembl chr 9:101,762,899...101,774,504 		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 chr 9:100,920,249...100,921,624
Ensembl chr 9:100,920,249...100,921,624 		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 chr 9:99,404,512...99,412,383
Ensembl chr 9:99,404,514...99,412,383 		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 chr 9:99,358,907...99,385,439
Ensembl chr 9:99,359,578...99,384,342 		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 chr 9:101,501,061...101,609,092
Ensembl chr 9:101,501,102...101,609,086 		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 chr 9:101,823,815...101,836,507
Ensembl chr 9:101,823,815...101,836,507 		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 chr 9:100,843,645...100,871,458
Ensembl chr 9:100,843,645...100,879,933 		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 chr 9:100,974,580...100,995,330
Ensembl chr 9:100,962,538...100,986,985 		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 chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637 		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 chr 9:101,395,491...101,465,446
Ensembl chr 9:101,397,305...101,465,379 		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 chr 9:99,449,375...99,451,343
Ensembl chr 9:99,449,371...99,451,096 		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 chr 9:99,413,981...99,436,262
Ensembl chr 9:99,413,978...99,436,418 		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 chr 9:101,772,845...101,793,734
Ensembl chr 9:101,773,724...101,793,728 		JBrowse link
G Kif1a kinesin family member 1A ISO
ISS 		DNA:missense mutations: :p.A255V, p.R350G (human)
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30
OMIM:610357
DNA:missense mutation: :p.A255V (human) 		ClinVar
MouseDO
RGD		 PMID:9536098 PMID:16081310 PMID:16199547 PMID:16434418 PMID:17576681 More... RGD:12911224, RGD:12911228 NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:101,010,447...101,094,777 		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 chr 9:99,389,982...99,400,295
Ensembl chr 9:99,390,014...99,400,295 		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 chr 9:99,039,590...99,167,805
Ensembl chr 9:99,039,614...99,167,779 		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 chr 9:101,138,408...101,148,516
Ensembl chr 9:101,138,408...101,147,915 		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 chr 9:98,955,036...98,990,566
Ensembl chr 9:98,955,141...98,990,556 		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 chr 9:101,281,560...101,286,236
Ensembl chr 9:101,281,543...101,286,259 		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 chr 9:100,454,498...100,490,023
Ensembl chr 9:100,437,379...100,489,264 		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 chr 9:101,844,261...101,849,917
Ensembl chr 9:101,844,261...101,849,917 		JBrowse link
G Or6b2 olfactory receptor family 6 subfamily B member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:100,495,938...100,496,876
Ensembl chr 9:100,495,938...100,496,876 		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 chr 9:100,664,378...100,667,882
Ensembl chr 9:100,664,380...100,665,898 		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 chr 9:101,291,673...101,333,288
Ensembl chr 9:101,291,676...101,332,504 		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 chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270 		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 chr 9:99,454,828...99,497,069
Ensembl chr 9:99,454,830...99,496,993 		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 chr 9:101,333,472...101,358,589
Ensembl chr 9:101,333,497...101,360,959 		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 chr 9:98,991,628...98,996,515
Ensembl chr 9:98,994,163...98,996,515 		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 chr 9:99,001,044...99,014,340
Ensembl chr 9:99,001,045...99,014,032 		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 chr 9:99,213,031...99,263,696 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 chr 9:99,178,706...99,204,344
Ensembl chr 9:99,178,741...99,204,338 		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 chr 9:100,921,053...100,933,748
Ensembl chr 9:100,923,856...100,933,485 		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 chr 9:99,337,796...99,358,487
Ensembl chr 9:99,327,873...99,358,487 		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 chr 9:101,465,535...101,498,766
Ensembl chr 9:101,465,650...101,498,759 		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 chr 9:101,221,497...101,281,401
Ensembl chr 9:101,221,530...101,281,401 		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 chr 9:101,609,218...101,621,458
Ensembl chr 9:101,609,221...101,621,359 		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 chr 9:101,689,935...101,729,656
Ensembl chr 9:101,689,936...101,729,441 		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 chr 9:99,521,176...99,557,966
Ensembl chr 9:99,521,179...99,557,963 		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 chr 9:99,822,242...99,866,722
Ensembl chr 9:99,818,962...99,920,270 		JBrowse link
G Ube2f ubiquitin-conjugating enzyme E2F (putative) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:99,293,506...99,328,690
Ensembl chr 9:99,293,515...99,330,479 		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 4:105,818,203...105,850,379
Ensembl chr 4:105,818,203...105,850,379 		JBrowse link
G C4h2orf68 similar to human chromosome 2 open reading frame 68 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:105,960,543...105,966,509
Ensembl chr 4:105,960,751...105,966,508 		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 4:106,027,918...106,043,653
Ensembl chr 4:106,027,912...106,043,923 		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 4:105,438,657...105,477,370
Ensembl chr 4:105,438,712...105,477,368 		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 4:106,048,043...106,053,612
Ensembl chr 4:106,038,254...106,053,645 		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 4:105,424,076...105,431,844
Ensembl chr 4:105,407,993...105,438,793 		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 4:105,508,305...105,572,272
Ensembl chr 4:105,508,248...105,574,036 		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 4:105,480,699...105,508,007
Ensembl chr 4:105,480,709...105,513,276 		JBrowse link
G Reep1 receptor accessory protein 1 ISO
ISS 		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:610250
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:16826527 PMID:17576681 PMID:18321925 More... NCBI chr 4:105,303,974...105,420,611
Ensembl chr 4:105,303,969...105,420,602 		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 4:105,972,778...105,979,624
Ensembl chr 4:105,972,797...105,979,500 		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 4:105,917,495...105,926,631
Ensembl chr 4:105,917,578...105,927,646 		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 4:105,692,840...105,750,774
Ensembl chr 4:105,692,840...105,750,775 		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 4:105,968,526...105,972,822
Ensembl chr 4:105,968,702...105,972,822 		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 4:105,932,140...105,964,551
Ensembl chr 4:105,932,140...105,964,551 		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 4:105,982,004...105,993,247
Ensembl chr 4:105,982,009...105,993,247 		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 4:106,000,570...106,011,081
Ensembl chr 4:106,000,570...106,011,073 		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 5:158,575,727...158,595,157
Ensembl chr 5:158,575,749...158,595,156 		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 chr 1:250,929,110...250,952,481
Ensembl chr 1:250,928,012...250,952,481 		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, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 ClinVar PMID:16783378 PMID:20301718 PMID:21735565 PMID:23176821 PMID:26936192 More... NCBI chr 2:222,523,516...222,541,055
Ensembl chr 2:222,523,518...222,541,124 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO
ISS 		ClinVar Annotator: match by term: FA2H-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 35
OMIM:612319 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19068277 More... NCBI chr19:56,222,240...56,273,480
Ensembl chr19:56,222,242...56,273,623 		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 chr12:6,192,958...6,300,997
Ensembl chr12:6,128,661...6,300,997 		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 chr12:6,357,851...6,372,151
Ensembl chr12:6,357,807...6,372,151 		JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:6,301,461...6,329,741
Ensembl chr12:6,277,664...6,318,919 		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: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2557489 PMID:3963113 PMID:8053762 PMID:9536098 PMID:16199547 More... NCBI chr12:6,372,284...6,401,632
Ensembl chr12:6,372,293...6,401,631 		JBrowse link
G Saxo5 stabilizer of axonemal microtubules 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:6,318,845...6,336,018
Ensembl chr12:6,318,903...6,336,009 		JBrowse link
G Zfp358 zinc finger protein 358 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:6,350,266...6,354,359
Ensembl chr12:6,350,067...6,354,897 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2720292 PMID:4684346 PMID:8252041 PMID:8981948 PMID:9246006 More... NCBI chr 6:94,113,149...94,210,955
Ensembl chr 6:94,112,877...94,211,219 		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 chr17:15,449,011...15,511,423
Ensembl chr17:15,435,894...15,511,305 		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 6:94,020,079...94,112,943
Ensembl chr 6:94,020,079...94,112,943 		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 6:26,474,843...26,668,275
Ensembl chr 6:26,474,843...26,668,507 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		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 6:26,872,812...26,893,580
Ensembl chr 6:26,872,732...26,894,930 		JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr 2:170,652,929...170,660,372
Ensembl chr 2:170,652,234...170,661,170 		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 chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		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 6:25,781,625...26,177,346
Ensembl chr 6:25,781,638...26,454,036 		JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:26,895,497...26,986,248
Ensembl chr 6:26,896,290...26,986,442 		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 6:26,743,658...26,771,783
Ensembl chr 6:26,743,698...26,770,563 		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:31,647,000...31,687,768
Ensembl chr  X:31,647,000...31,687,884 		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:137,576,214...137,619,297
Ensembl chr  X:137,576,235...137,615,914 		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 6:26,772,804...26,802,656
Ensembl chr 6:26,772,804...26,802,656 		JBrowse link
G Spast spastin ISO
ISS 		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, modifier of
OMIM:182601
CTD Direct Evidence: marker/mechanism
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
MouseDO
CTD		 PMID:2504538 PMID:9536098 PMID:9695811 PMID:10493830 PMID:10610178 More... NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:26,807,220...26,858,446 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:27,178,089...27,217,588
Ensembl chr 6:27,178,079...27,217,588 		JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr18:65,216,840...65,563,186
Ensembl chr18:65,216,849...65,558,401 		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:31,617,107...31,647,035
Ensembl chr  X:31,635,706...31,641,443 		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 6:26,310,696...26,454,045
Ensembl chr 6:25,781,638...26,454,036 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:27,282,057...27,344,350 		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 6:26,702,647...26,714,066
Ensembl chr 6:26,682,488...26,714,066 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:19061983 PMID:24583203 PMID:25402622 PMID:25741868 PMID:26467025 More... NCBI chr 2:150,565,327...150,587,700
Ensembl chr 2:150,565,328...150,587,416 		JBrowse link
hereditary spastic paraplegia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1h19orf12 similar to human chromosome 19 open reading frame 12 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 1:100,010,280...100,023,907
Ensembl chr 1:100,010,323...100,023,903 		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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.I33M (human) 		OMIM
ClinVar
CTD
RGD		 PMID:19056803 PMID:25741868 PMID:27057822 PMID:28492532 PMID:34055681 More... RGD:13208577 NCBI chr10:44,462,203...44,470,924
Ensembl chr10:44,462,054...44,470,340 		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 chr 1:255,585,063...255,709,455
Ensembl chr 1:255,585,095...255,704,849 		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 chr 1:255,712,797...255,838,285
Ensembl chr 1:255,713,909...255,838,403 		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 chr 3:188,643,455...188,652,633
Ensembl chr 3:188,643,458...188,677,712 		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 5:62,618,176...62,630,160
Ensembl chr 5:62,618,177...62,630,308 		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 2:193,287,219...193,308,446
Ensembl chr 2:193,287,265...193,308,443 		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 2:194,006,926...194,018,971
Ensembl chr 2:194,006,919...194,018,968 		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 2:193,381,000...193,388,881
Ensembl chr 2:193,380,982...193,388,878 		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 2:194,019,158...194,032,516
Ensembl chr 2:194,027,397...194,032,516 		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 2:195,008,035...195,053,100
Ensembl chr 2:195,008,039...195,053,100 		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 2:193,234,546...193,271,301
Ensembl chr 2:193,243,526...193,271,301 		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 2:195,196,318...195,244,792
Ensembl chr 2:195,196,318...195,243,181 		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 2:193,998,350...194,006,873
Ensembl chr 2:193,998,354...194,006,864 		JBrowse link
G Dennd2c DENN domain containing 2C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:193,310,822...193,378,986
Ensembl chr 2:193,335,230...193,378,978 		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 2:193,937,261...193,988,247
Ensembl chr 2:193,937,261...193,975,164 		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 2:195,626,316...195,843,690
Ensembl chr 2:195,626,316...195,843,690 		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 2:194,635,686...194,705,014
Ensembl chr 2:194,638,182...194,700,940 		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 2:194,206,587...194,405,468
Ensembl chr 2:194,206,934...194,405,157 		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 2:194,982,014...195,003,513
Ensembl chr 2:194,982,014...195,003,442 		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 2:193,271,399...193,282,023
Ensembl chr 2:193,271,430...193,278,543 		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 2:193,932,665...193,935,494
Ensembl chr 2:193,932,665...193,935,494 		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 2:194,161,343...194,249,925
Ensembl chr 2:194,161,000...194,219,530 		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 2:194,966,854...194,972,228
Ensembl chr 2:194,966,950...194,972,227 		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 2:194,055,165...194,103,209
Ensembl chr 2:194,045,746...194,103,209 		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 2:194,975,586...194,981,637
Ensembl chr 2:194,975,242...194,983,745 		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 2:194,105,058...194,159,142
Ensembl chr 2:194,105,061...194,159,142 		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 2:193,206,490...193,214,321
Ensembl chr 2:193,206,490...193,217,004 		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 2:194,805,556...194,832,966
Ensembl chr 2:194,812,502...194,832,977 		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 2:195,052,939...195,122,755
Ensembl chr 2:195,052,922...195,175,857 		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 2:192,985,164...193,145,234
Ensembl chr 2:192,984,621...193,145,421 		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 2:193,781,051...193,840,741
Ensembl chr 2:193,781,476...193,840,741 		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 2:194,952,499...194,968,776
Ensembl chr 2:194,954,998...194,962,061 		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 2:193,495,743...193,588,595
Ensembl chr 2:193,500,755...193,581,156 		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 2:192,913,171...192,918,054
Ensembl chr 2:192,913,171...192,942,984 		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 7:92,773,625...92,825,532
Ensembl chr 7:92,773,625...92,825,532 		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 2:195,142,573...195,156,945
Ensembl chr 2:195,135,176...195,157,144 		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
ISS 		ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 48, autosomal recessive
OMIM:613647 		OMIM
ClinVar
MouseDO		 PMID:3286 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20613862 More... NCBI chr12:17,207,315...17,222,975
Ensembl chr12:17,207,315...17,222,467 		JBrowse link
hereditary spastic paraplegia 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 ClinVar PMID:28492532 NCBI chr 6:135,827,355...135,830,002
Ensembl chr 6:135,775,869...135,837,893 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: Inherited spastic paresis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: TECPR2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23176824 PMID:25590979 More... NCBI chr 6:135,720,765...135,823,187
Ensembl chr 6:135,720,656...135,823,187 		JBrowse link
hereditary spastic paraplegia 50 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: AP-4 deficiency syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:134,726,338...134,792,820
Ensembl chr 3:134,726,287...134,792,818 		JBrowse link
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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 More... NCBI chr12:22,163,474...22,171,734
Ensembl chr12:22,163,466...22,171,731 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729 		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 chr12:22,155,921...22,163,320
Ensembl chr12:22,155,921...22,163,771 		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 3:134,726,338...134,792,820
Ensembl chr 3:134,726,287...134,792,818 		JBrowse link
G Sppl2a signal peptide peptidase-like 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr 3:134,602,684...134,646,752
Ensembl chr 3:134,605,750...134,646,752 		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: Hereditary spastic paraplegia 52 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21620353 PMID:23167973 More... NCBI chr 6:74,863,742...74,916,907
Ensembl chr 6:74,868,558...74,912,406 		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 chr16:57,669,927...57,701,349
Ensembl chr16:57,669,750...57,718,305 		JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:25,384,254...25,408,388
Ensembl chr16:25,384,257...25,408,839 		JBrowse link
G Cnot7 CCR4-NOT transcription complex, subunit 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:58,478,882...58,498,046
Ensembl chr16:58,478,900...58,498,046 		JBrowse link
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:25,761,946...26,097,306
Ensembl chr16:26,002,530...26,096,065 		JBrowse link
G Fgf20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:58,734,003...58,741,650
Ensembl chr16:58,734,003...58,741,627 		JBrowse link
G Fgl1 fibrinogen-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:57,824,127...57,854,413
Ensembl chr16:57,824,200...57,854,429 		JBrowse link
G Ints10 integrator complex subunit 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:25,682,818...25,735,840
Ensembl chr16:25,682,050...25,734,528 		JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:25,596,205...25,621,928
Ensembl chr16:25,596,211...25,622,107 		JBrowse link
G Lzts1 leucine zipper tumor suppressor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:25,309,502...25,364,942
Ensembl chr16:25,309,507...25,364,940 		JBrowse link
G Micu3 mitochondrial calcium uptake family, member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:58,624,702...58,714,302
Ensembl chr16:58,629,208...58,714,045 		JBrowse link
G Mtmr7 myotubularin related protein 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:58,344,755...58,435,682
Ensembl chr16:58,344,767...58,436,615 		JBrowse link
G Mtus1 microtubule associated scaffold protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:57,905,991...58,051,466
Ensembl chr16:57,906,128...58,051,474 		JBrowse link
G Nat1 N-acetyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:26,984,882...27,005,194
Ensembl chr16:26,982,625...26,986,527 		JBrowse link
G Nat2 N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:26,974,874...27,005,191
Ensembl chr16:26,974,601...26,976,304 		JBrowse link
G Pcm1 pericentriolar material 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:57,711,833...57,808,842
Ensembl chr16:57,711,833...57,808,599 		JBrowse link
G Pdgfrl platelet-derived growth factor receptor-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:58,051,421...58,111,327
Ensembl chr16:58,051,440...58,111,327 		JBrowse link
G Psd3 pleckstrin and Sec7 domain containing 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:26,238,595...26,802,535
Ensembl chr16:26,340,028...26,802,535 		JBrowse link
G Sh2d4a SH2 domain containing 4A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:26,106,721...26,176,069
Ensembl chr16:26,106,730...26,175,974 		JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:25,408,485...25,453,786
Ensembl chr16:25,420,243...25,453,786 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:58,115,991...58,174,256
Ensembl chr16:58,120,968...58,174,256 		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 chr16:58,434,802...58,478,777
Ensembl chr16:58,440,950...58,478,831 		JBrowse link
G Zdhhc2 zinc finger DHHC-type palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:58,511,931...58,581,530
Ensembl chr16:58,511,934...58,581,516 		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 chr16:73,725,186...73,804,284
Ensembl chr16:73,725,114...73,804,646 		JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:71,635,814...71,674,275
Ensembl chr16:71,636,164...71,674,154 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:71,544,603...71,547,410
Ensembl chr16:71,542,567...71,547,420 		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 chr16:72,943,527...72,966,791
Ensembl chr16:72,944,949...72,967,839 		JBrowse link
G Bag4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:72,991,407...73,008,620
Ensembl chr16:72,991,362...73,013,273 		JBrowse link
G Brf2 BRF2 general transcription factor 3B subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:71,626,146...71,635,909
Ensembl chr16:71,623,238...71,635,903 		JBrowse link
G Ddhd2 DDHD domain containing 2 ISO
ISS 		ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
OMIM:615033 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:16636240 PMID:17576681 PMID:23176823 More... NCBI chr16:73,022,136...73,051,746
Ensembl chr16:73,022,193...73,051,745 		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 chr16:71,495,457...71,508,845
Ensembl chr16:71,487,930...71,508,874 		JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:71,720,486...71,736,999
Ensembl chr16:71,721,364...71,736,503 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Got1l1 glutamic-oxaloacetic transaminase 1-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:71,563,562...71,576,446
Ensembl chr16:71,563,534...71,570,468 		JBrowse link
G Htra4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:73,704,255...73,717,722
Ensembl chr16:73,704,184...73,717,722 		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 chr16:73,171,768...73,192,336
Ensembl chr16:73,167,727...73,192,373 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:72,980,075...72,991,581
Ensembl chr16:72,979,686...73,022,396 		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 chr16:73,056,748...73,170,082
Ensembl chr16:73,061,694...73,168,130 		JBrowse link
G Plekha2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:73,641,338...73,704,068
Ensembl chr16:73,641,344...73,703,087 		JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:71,705,064...71,717,726
Ensembl chr16:71,700,028...71,717,726 		JBrowse link
G Plpp5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:73,052,204...73,056,609
Ensembl chr16:73,052,204...73,056,643 		JBrowse link
G Rab11fip1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:71,589,753...71,620,341
Ensembl chr16:71,589,753...71,620,341 		JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:72,969,824...72,974,447
Ensembl chr16:72,961,518...72,974,447 		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 chr16:73,515,016...73,598,395
Ensembl chr16:73,514,889...73,598,394 		JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:73,719,331...73,724,853
Ensembl chr16:73,719,332...73,724,981 		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 chr12:37,922,532...37,936,219
Ensembl chr12:37,919,398...37,936,219 		JBrowse link
hereditary spastic paraplegia 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: CYP2U1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 OMIM
ClinVar		 PMID:615030 PMID:14660610 PMID:23176821 PMID:25558065 PMID:25741868 More... NCBI chr 2:222,523,516...222,541,055
Ensembl chr 2:222,523,518...222,541,124 		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 chr11:57,354,607...57,381,071
Ensembl chr11:57,354,687...57,382,267 		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 3:134,413,832...134,463,040
Ensembl chr 3:134,415,391...134,463,032 		JBrowse link
hereditary spastic paraplegia 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:249,325,082...249,357,383
Ensembl chr 1:249,325,082...249,357,383 		JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:21981780 PMID:25741868 PMID:28492532 PMID:39825153 NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:100,010,323...100,023,903 		JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chr 2:222,523,516...222,541,055
Ensembl chr 2:222,523,518...222,541,124 		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 2:102,419,011...102,586,047
Ensembl chr 2:102,419,011...102,451,804 		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 5:62,618,176...62,630,160
Ensembl chr 5:62,618,177...62,630,308 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chr12:6,357,851...6,372,151
Ensembl chr12:6,357,807...6,372,151 		JBrowse link
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:28492532 NCBI chr18:26,712,236...26,721,275
Ensembl chr18:26,712,426...26,721,278 		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 chr 1:115,842,754...115,935,163
Ensembl chr 1:115,846,661...115,951,292 		JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 | ClinVar Annotator: match by term: NIPA1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7825577 PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 More... NCBI chr 1:115,608,221...116,010,503
Ensembl chr 1:115,974,481...116,010,812 		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 chr 1:115,935,759...115,960,034
Ensembl chr 1:115,936,063...115,959,913 		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 chr 1:115,772,294...115,807,947
Ensembl chr 1:115,772,384...115,808,438 		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 1:181,864,717...181,874,232
Ensembl chr 1:181,864,746...181,874,232 		JBrowse link
hereditary spastic paraplegia 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin1 ER lipid raft associated 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 62 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 More... NCBI chr 1:252,870,356...252,905,681
Ensembl chr 1:252,870,356...252,905,947 		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 2:197,982,335...198,016,770
Ensembl chr 2:197,982,344...198,033,930 		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 2:199,076,864...199,120,402
Ensembl chr 2:199,081,596...199,120,375 		JBrowse link
G Alx3 ALX homeobox 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:197,919,381...197,929,795
Ensembl chr 2:197,919,381...197,929,795 		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 2:198,511,285...198,516,744
Ensembl chr 2:198,511,039...198,521,146 		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 2:198,395,767...198,408,514
Ensembl chr 2:198,395,768...198,408,796 		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 2:198,527,066...198,535,899
Ensembl chr 2:198,527,066...198,534,062 		JBrowse link
G Cd53 Cd53 molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:197,040,369...197,087,925
Ensembl chr 2:197,040,369...197,218,593 		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 2:198,717,333...198,741,689
Ensembl chr 2:198,717,896...198,741,581 		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 2:198,854,129...198,871,406
Ensembl chr 2:198,854,129...198,866,036 		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 2:198,984,455...199,015,015
Ensembl chr 2:198,984,495...199,015,014 		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 2:198,065,400...198,084,774
Ensembl chr 2:198,065,405...198,084,468 		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 2:198,523,031...198,525,671
Ensembl chr 2:198,523,031...198,525,676 		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 2:196,724,052...196,752,645
Ensembl chr 2:196,723,858...196,755,103 		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 2:199,296,582...199,351,449
Ensembl chr 2:199,296,582...199,351,449 		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 2:198,777,323...198,856,497
Ensembl chr 2:198,777,323...198,856,497 		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 2:198,202,862...198,216,255
Ensembl chr 2:198,200,486...198,216,255 		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 2:199,189,029...199,226,425
Ensembl chr 2:199,190,549...199,225,783 		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 2:198,430,920...198,468,874 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 2:198,414,568...198,431,532
Ensembl chr 2:198,414,920...198,424,022 		JBrowse link
G Gpr61 G protein-coupled receptor 61 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:198,471,430...198,477,827
Ensembl chr 2:198,427,135...198,477,874 		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 2:199,015,250...199,063,788
Ensembl chr 2:199,015,250...199,063,056 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstm2 glutathione S-transferase mu 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:198,312,179...198,316,962 JBrowse link
G Gstm4 glutathione S-transferase mu 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:198,356,114...198,373,487
Ensembl chr 2:198,358,744...198,373,638 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:198,219,769...198,222,732
Ensembl chr 2:198,219,647...198,222,731 		JBrowse link
G Gstm5l glutathione S-transferase, mu 5-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:198,231,285...198,238,122
Ensembl chr 2:198,232,596...198,238,252 		JBrowse link
G Henmt1 HEN methyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:199,258,107...199,291,739
Ensembl chr 2:199,274,480...199,287,822 		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 2:197,474,714...197,486,789
Ensembl chr 2:197,474,714...197,486,789 		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 2:197,392,746...197,406,606
Ensembl chr 2:197,392,698...197,407,519 		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 2:197,320,324...197,322,277
Ensembl chr 2:197,318,134...197,350,739 		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 2:197,747,095...197,788,467
Ensembl chr 2:197,759,010...197,788,433 		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 2:197,588,242...197,593,598
Ensembl chr 2:197,588,242...197,593,598 		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 2:196,919,606...197,010,713
Ensembl chr 2:196,919,151...197,010,717 		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 2:198,692,857...198,706,953
Ensembl chr 2:198,693,101...198,705,738 		JBrowse link
G Prok1 prokineticin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:197,538,747...197,547,550
Ensembl chr 2:197,537,068...197,547,550 		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 2:199,241,312...199,250,342
Ensembl chr 2:199,241,313...199,250,338 		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 2:198,584,502...198,607,867
Ensembl chr 2:198,584,505...198,607,867 		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 2:198,710,427...198,715,001
Ensembl chr 2:198,705,839...198,714,997 		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 2:197,634,174...197,642,697
Ensembl chr 2:197,583,002...197,643,037 		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 2:198,753,673...198,769,411
Ensembl chr 2:198,753,675...198,769,365 		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 2:197,593,738...197,621,569
Ensembl chr 2:197,599,295...197,621,562 		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 2:199,449,425...199,487,287
Ensembl chr 2:199,449,345...199,487,290 		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 2:197,795,622...197,843,883
Ensembl chr 2:197,795,622...197,843,883 		JBrowse link
G Sort1 sortilin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:198,609,466...198,690,481
Ensembl chr 2:198,612,148...198,690,481 		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 2:197,936,569...197,956,515
Ensembl chr 2:197,936,569...197,956,865 		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 2:199,130,725...199,173,823
Ensembl chr 2:199,130,725...199,173,823 		JBrowse link
G Sypl2 synaptophysin-like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:198,537,208...198,551,939
Ensembl chr 2:198,537,208...198,561,640 		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 2:198,893,332...198,903,994
Ensembl chr 2:198,893,351...198,904,769 		JBrowse link
G Tmem167b transmembrane protein 167B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:198,882,471...198,886,249
Ensembl chr 2:198,882,471...198,886,249
Ensembl chr20:198,882,471...198,886,249 		JBrowse link
G Ubl4b ubiquitin-like 4B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:197,880,669...197,883,167
Ensembl chr 2:197,878,322...197,882,005 		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 2:198,914,977...198,975,844
Ensembl chr 2:198,914,940...198,975,841 		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 chr 1:249,374,810...249,502,310
Ensembl chr 1:249,374,836...249,502,317 		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 chr19:67,848,836...68,007,491
Ensembl chr19:67,848,844...68,007,491 		JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:39825153 NCBI chr 5:135,510,666...135,522,777
Ensembl chr 5:135,517,695...135,522,776 		JBrowse link
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin ISS OMIM:607259 MouseDO NCBI chr19:68,025,619...68,059,754
Ensembl chr19:68,025,612...68,059,754 		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 7:65,034,023...65,042,336
Ensembl chr 7:65,034,144...65,042,336 		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 7:65,006,456...65,023,880
Ensembl chr 7:64,998,544...65,023,753 		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 chr18:26,712,236...26,721,275
Ensembl chr18:26,712,426...26,721,278 		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 1:104,579,297...104,593,824
Ensembl chr 1:104,579,298...104,593,763 		JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 ClinVar PMID:25741868 NCBI chr19:37,700,023...37,734,551
Ensembl chr19:37,691,901...37,733,917 		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 chr10:44,441,579...44,450,368
Ensembl chr10:44,441,579...44,450,368 		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 1:94,690,979...94,696,429
Ensembl chr 1:94,691,822...94,696,427 		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 1:94,824,330...94,834,705
Ensembl chr 1:94,824,072...94,834,610 		JBrowse link
G Arhgap33 Rho GTPase activating protein 33 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,903,566...94,917,074
Ensembl chr 1:94,902,922...94,917,684 		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 1:95,089,122...95,102,277
Ensembl chr 1:95,089,122...95,102,277 		JBrowse link
G Capns1 calpain, small subunit 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,572,083...94,582,332
Ensembl chr 1:94,572,083...94,583,368 		JBrowse link
G Cd22 CD22 molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,243,785...95,270,430
Ensembl chr 1:95,244,868...95,259,730 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:96,896,584...96,899,256
Ensembl chr 1:96,896,171...96,899,309 		JBrowse link
G Cebpg CCAAT/enhancer binding protein gamma ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:96,820,981...96,829,736
Ensembl chr 1:96,810,214...96,830,283 		JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:97,195,116...97,237,015
Ensembl chr 1:97,195,135...97,237,016 		JBrowse link
G Chst8 carbohydrate sulfotransferase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:96,431,144...96,572,880
Ensembl chr 1:96,431,145...96,572,880 		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 1:94,674,492...94,690,643
Ensembl chr 1:94,674,661...94,690,642 		JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,002,513...95,011,516
Ensembl chr 1:95,001,707...95,011,431
Ensembl chr 5:95,001,707...95,011,431 		JBrowse link
G Cox7a1 cytochrome c oxidase subunit 7A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,549,663...94,572,330
Ensembl chr 1:94,569,216...94,570,889 		JBrowse link
G Dmkn dermokine ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,140,737...95,158,676
Ensembl chr 1:95,141,620...95,157,439 		JBrowse link
G Etv2 ETS variant transcription factor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,017,980...95,021,582
Ensembl chr 1:95,017,687...95,021,457 		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 1:97,188,678...97,194,899
Ensembl chr 1:97,188,678...97,194,882 		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 1:95,329,482...95,346,940
Ensembl chr 1:95,332,631...95,371,536 		JBrowse link
G Ffar1 free fatty acid receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,238,785...95,239,689
Ensembl chr 1:95,238,785...95,239,691 		JBrowse link
G Ffar2 free fatty acid receptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,199,277...95,202,599
Ensembl chr 1:95,199,271...95,202,623 		JBrowse link
G Ffar3 free fatty acid receptor 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,232,804...95,234,144
Ensembl chr 1:95,232,336...95,234,354 		JBrowse link
G Fxyd1 FXYD domain-containing ion transport regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,414,556...95,418,645
Ensembl chr 1:95,414,557...95,418,591 		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 1:95,432,918...95,440,129
Ensembl chr 1:95,432,919...95,439,702 		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 1:95,395,327...95,404,722
Ensembl chr 1:95,395,146...95,405,364 		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 1:95,405,071...95,414,407
Ensembl chr 1:95,405,225...95,414,345 		JBrowse link
G Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,106,516...95,125,918
Ensembl chr 1:95,106,518...95,121,055 		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 1:95,999,305...96,077,641
Ensembl chr 1:95,996,429...96,051,620 		JBrowse link
G Gpatch1 G patch domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:97,062,539...97,111,487
Ensembl chr 1:97,062,551...97,111,465 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:95,965,396...95,993,261 		JBrowse link
G Gramd1a GRAM domain containing 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,494,378...95,520,730
Ensembl chr 1:95,494,378...95,520,716 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		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 1:95,039,800...95,050,778
Ensembl chr 1:95,039,800...95,050,778 		JBrowse link
G Hcst hematopoietic cell signal transducer ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,804,429...94,806,661
Ensembl chr 1:94,804,430...94,806,641 		JBrowse link
G Hpn hepsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,464,468...95,480,169
Ensembl chr 1:95,464,470...95,480,199 		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 1:94,934,372...94,936,516
Ensembl chr 1:94,933,543...94,936,512 		JBrowse link
G Igflr1 IGF-like family receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,945,866...94,948,476
Ensembl chr 1:94,945,967...94,948,473 		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 1:96,395,794...96,411,502
Ensembl chr 1:96,395,794...96,410,631 		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 1:94,836,243...94,846,119
Ensembl chr 1:94,836,243...94,846,119 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,949,144...94,969,239
Ensembl chr 1:94,949,144...94,968,441 		JBrowse link
G Krtdap keratinocyte differentiation associated protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,165,844...95,169,025
Ensembl chr 1:95,165,862...95,169,012 		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 1:95,422,461...95,433,296
Ensembl chr 1:95,414,058...95,433,289 		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 1:94,936,512...94,940,444
Ensembl chr 1:94,936,512...94,940,444 		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 1:94,744,315...94,751,001
Ensembl chr 1:94,744,321...94,751,178 		JBrowse link
G Lrp3 LDL receptor related protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:96,980,762...96,996,157
Ensembl chr 1:96,981,815...96,996,057 		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 1:96,101,990...96,146,578
Ensembl chr 1:96,101,992...96,146,448 		JBrowse link
G Lsr lipolysis stimulated lipoprotein receptor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,313,830...95,329,471
Ensembl chr 1:95,313,033...95,329,354 		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 1:95,275,728...95,291,133
Ensembl chr 1:95,275,635...95,291,060 		JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,808,459...94,824,726
Ensembl chr 1:94,808,453...94,817,861 		JBrowse link
G Nudt19 nudix hydrolase 19 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:97,351,373...97,362,969
Ensembl chr 1:97,351,378...97,362,969 		JBrowse link
G Ovol3 ovo-like zinc finger 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,612,417...94,616,053
Ensembl chr 1:94,612,417...94,616,053 		JBrowse link
G Pdcd2l programmed cell death 2-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,947,476...95,959,738
Ensembl chr 1:95,947,476...95,959,906 		JBrowse link
G Pepd peptidase D ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:96,673,624...96,818,197
Ensembl chr 1:96,673,607...96,818,190 		JBrowse link
G Polr2i RNA polymerase II subunit I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,610,976...94,612,413
Ensembl chr 1:94,610,942...94,613,000 		JBrowse link
G Prodh2 proline dehydrogenase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,881,000...94,894,609
Ensembl chr 1:94,881,061...94,894,609 		JBrowse link
G Proser3 proline and serine rich 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,920,802...94,934,126
Ensembl chr 1:94,920,817...94,933,296 		JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,942,348...94,943,545
Ensembl chr 1:94,942,225...94,943,752 		JBrowse link
G Rbm42 RNA binding motif protein 42 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,026,050...95,036,020
Ensembl chr 1:95,026,050...95,035,980 		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 1:97,386,326...97,387,039
Ensembl chr 1:97,386,326...97,387,039 		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 1:97,128,054...97,188,803
Ensembl chr 1:97,127,697...97,188,803 		JBrowse link
G Sbsn suprabasin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,106,390...95,133,448
Ensembl chr 1:95,120,927...95,134,220 		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 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197 		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 1:94,703,662...94,704,611
Ensembl chr 1:94,702,409...94,706,092 		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 1:96,966,030...96,982,020
Ensembl chr 1:96,966,076...96,982,018 		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 1:97,246,253...97,269,546
Ensembl chr 1:97,247,547...97,269,543 		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 1:94,696,866...94,701,230
Ensembl chr 1:94,696,609...94,701,230 		JBrowse link
G Tbcb tubulin folding cofactor B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,605,100...94,610,949
Ensembl chr 1:94,605,101...94,610,949 		JBrowse link
G Tdrd12 tudor domain containing 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:97,270,280...97,342,637
Ensembl chr 1:97,271,185...97,342,699 		JBrowse link
G Thap8 THAP domain containing 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532
G Tmem147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,104,448...95,106,268
Ensembl chr 1:95,104,452...95,106,283 		JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,800,372...94,804,307
Ensembl chr 1:94,800,117...94,804,299 		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 1:94,943,684...94,945,906
Ensembl chr 1:94,942,544...94,946,391 		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 1:95,912,422...95,939,870
Ensembl chr 1:95,912,430...95,939,901 		JBrowse link
G Upk1a uroplakin 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,987,110...94,998,083
Ensembl chr 1:94,987,108...94,997,787 		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 1:95,302,109...95,321,334
Ensembl chr 1:95,302,105...95,313,119 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:94,618,992...94,658,097
Ensembl chr 1:94,618,992...94,658,223 		JBrowse link
G Wdr88 WD repeat domain 88 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:97,021,259...97,061,646
Ensembl chr 1:97,020,943...97,061,790 		JBrowse link
G Wtip WT1 interacting protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,868,399...95,902,117
Ensembl chr 1:95,868,399...95,902,427 		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 1:94,969,374...94,978,553
Ensembl chr 1:94,969,374...94,971,679 		JBrowse link
G Znf599l-ps1 zinc finger protein 599 like, pseudogene 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:95,580,833...95,611,375 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:16199547 PMID:17576681 PMID:25741868 PMID:27153400 More... NCBI chr 1:212,705,219...212,736,134
Ensembl chr 1:212,705,222...212,729,445 		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 chr17:28,524,737...28,951,818
Ensembl chr17:28,524,738...28,951,591 		JBrowse link
G Lyrm4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive ClinVar PMID:25741868 NCBI chr17:28,951,912...29,067,300
Ensembl chr17:28,951,924...29,143,177 		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 5:158,575,727...158,595,157
Ensembl chr 5:158,575,749...158,595,156 		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 chr14:41,838,859...41,849,743
Ensembl chr14:41,838,861...41,849,417 		JBrowse link
hereditary spastic paraplegia 79B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome ClinVar
OMIM		 PMID:3340629 PMID:4514348 PMID:10203348 PMID:10563640 PMID:12408865 More... NCBI chr14:41,838,859...41,849,743
Ensembl chr14:41,838,861...41,849,417 		JBrowse link
hereditary spastic paraplegia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr11:98,084,049...98,135,663
Ensembl chr11:98,085,397...98,137,420 		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 chr17:9,317,085...9,431,528
Ensembl chr17:9,317,085...9,452,250 		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 7:92,825,568...93,071,037
Ensembl chr 7:92,825,587...93,054,326 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:74,465,616...74,827,455
Ensembl chr18:74,465,616...74,827,455 		JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 7:58,963,319...58,996,357
Ensembl chr 7:58,963,325...58,996,357 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7604842 PMID:9536098 PMID:10797436 PMID:16199547 PMID:17160902 More... NCBI chr 7:92,773,625...92,825,532
Ensembl chr 7:92,773,625...92,825,532 		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
ISS 		ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant | ClinVar Annotator: match by term: UBAP1-related condition
OMIM:618418 		OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:25741869 PMID:30929741 PMID:31203368 PMID:31515522 More... NCBI chr 5:61,316,650...61,357,077
Ensembl chr 5:61,316,643...61,357,076 		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 6:31,792,972...31,831,170
Ensembl chr 6:31,792,973...31,831,523 		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 chr10:106,387,150...106,394,500
Ensembl chr10:106,387,148...106,394,468 		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 5:135,523,258...135,524,864
Ensembl chr 5:135,523,262...135,535,704 		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 chr11:97,113,390...97,234,374
Ensembl chr11:97,113,245...97,228,315 		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 chr16:72,631,638...72,656,893
Ensembl chr16:72,631,638...72,656,469 		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:34489854 PMID:34587489 PMID:34866177 NCBI chr20:3,723,756...3,738,617
Ensembl chr20:3,723,757...3,738,736 		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 6:112,398,308...112,469,732
Ensembl chr 6:112,399,118...112,469,729 		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 chr15:39,712,375...39,786,127
Ensembl chr15:39,712,381...39,786,319 		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:25741868 PMID:37119330 NCBI chr19:11,002,451...11,038,182
Ensembl chr19:11,002,101...11,038,364 		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 6:77,879,931...77,891,344
Ensembl chr 6:77,879,941...77,891,403 		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		 PMID:36718090 NCBI chr 6:77,879,931...77,891,344
Ensembl chr 6:77,879,941...77,891,403 		JBrowse link
hereditary spastic paraplegia 92 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ficd FIC domain protein adenylyltransferase ISO ClinVar Annotator: match by term: Spastic paraplegia 92, autosomal recessive OMIM
ClinVar		 PMID:36136088 NCBI chr12:48,549,737...48,554,626
Ensembl chr12:48,549,737...48,554,626 		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: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:p.V243L, p.R252Q(human) 		OMIM
ClinVar
CTD
RGD		 PMID:8779323 PMID:9643297 PMID:9973297 PMID:25741868 PMID:26026163 More... RGD:11056004 NCBI chr 1:249,325,082...249,357,383
Ensembl chr 1:249,325,082...249,357,383 		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:21739576 PMID:24913064 More... NCBI chr 1:249,325,082...249,357,383
Ensembl chr 1:249,325,082...249,357,383 		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 chr13:42,410,351...42,465,467
Ensembl chr13:42,379,162...42,465,467 		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 4:159,240,573...159,254,378
Ensembl chr 4:159,237,562...159,254,418 		JBrowse link
G L1cam L1 cell adhesion molecule ISO
ISS 		DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel (human)
ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
OMIM:303350
DNA:deletion:exon:
DNA:mutation:cds:924C>T(human)
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1303258 PMID:1870106 PMID:3460961 PMID:7493978 PMID:7562969 More... RGD:6483061, RGD:11570406, RGD:11064095 NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:156,748,597...156,775,077 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr19:68,365,687...68,374,741
Ensembl chr19:68,365,587...68,374,740 		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
ISS 		ClinVar Annotator: match by term: Mast syndrome | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE
OMIM:248900
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:6024251 PMID:9536098 PMID:14564668 PMID:16199547 PMID:17576681 More... NCBI chr 8:74,876,136...74,903,676
Ensembl chr 8:74,876,136...74,903,676 		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 NCBI chr 3:29,580,157...29,598,440
Ensembl chr 3:29,580,159...29,597,610 		JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:159,707,686...159,715,137
Ensembl chr 4:159,708,511...159,715,137 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:159,698,894...159,705,582
Ensembl chr 4:159,698,629...159,713,608 		JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,830,684...55,831,827 JBrowse link
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,882,071...55,900,575
Ensembl chr10:55,882,071...55,900,179 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,829,835...55,838,853
Ensembl chr10:55,829,836...55,834,154 		JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,868,880...55,876,099
Ensembl chr10:55,866,101...55,874,540 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,829,832...55,854,560 		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 chr10:55,900,610...55,912,975
Ensembl chr10:55,900,610...55,912,698 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia 2
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17273843 PMID:17576681 PMID:24319291 More... NCBI chr10:55,913,010...55,942,220
Ensembl chr10:55,913,093...55,942,220 		JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,863,882...55,866,587
Ensembl chr10:55,863,881...55,868,611 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,859,254...55,863,546
Ensembl chr10:55,859,297...55,863,905 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,856,209...55,859,060
Ensembl chr10:55,855,979...55,859,060 		JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,875,868...55,882,025
Ensembl chr10:55,875,868...55,882,025 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic ataxia 3 		OMIM
CTD
ClinVar		 PMID:22448145 PMID:25741868 PMID:28492532 NCBI chr 9:64,214,935...64,228,408
Ensembl chr 9:64,215,128...64,338,443 		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 chr15:39,461,853...39,546,419
Ensembl chr15:39,472,905...39,546,419 		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 chr 9:101,010,447...101,094,891
Ensembl chr 9:101,010,447...101,094,777 		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 30b, autosomal recessive
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16434418 PMID:21487076 PMID:22258533 PMID:25265257 PMID:25741868 More... NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:101,010,447...101,094,777 		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 3:33,639,020...33,703,890
Ensembl chr 3:33,607,210...33,703,889 		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 4:121,016,316...121,036,925
Ensembl chr 4:121,016,393...121,037,493 		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 chr10:88,352,987...88,361,661
Ensembl chr10:88,352,986...88,361,685 		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 6:47,346,790...47,435,599
Ensembl chr 6:47,346,832...47,431,865 		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 2:173,919,330...174,500,536
Ensembl chr 2:173,921,747...174,500,527 		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 chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		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
ISS 		ClinVar Annotator: match by term: SLC1A4-related condition | ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
OMIM:616657 		OMIM
ClinVar
MouseDO		 PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chr14:98,718,646...98,761,672
Ensembl chr14:98,730,450...98,761,790 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: KLC2-related condition | ClinVar Annotator: match by term: Spastic paraplegia, optic atropy, and neuropathy 		OMIM
CTD
ClinVar		 PMID:24482476 PMID:25741868 PMID:26385635 PMID:28492532 NCBI chr 1:211,843,927...211,854,160
Ensembl chr 1:211,843,929...211,854,160 		JBrowse link
Troyer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grid2 glutamate ionotropic receptor delta type subunit 2 ISO ClinVar Annotator: match by term: Troyer syndrome ClinVar PMID:24122788 NCBI chr 4:93,745,165...95,222,354
Ensembl chr 4:93,745,277...95,219,868 		JBrowse link
G Spart spartin ISO
ISS 		OMIM:275900
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SPART-related condition | ClinVar Annotator: match by term: Troyer syndrome 		OMIM
MouseDO
CTD
ClinVar		 PMID:12134148 PMID:18413476 PMID:20437587 PMID:20504295 PMID:23699601 More... NCBI chr 2:141,442,770...141,469,388
Ensembl chr 2:141,442,737...141,469,382 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          paraplegia 704
            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 + 466
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          Paralysis 827
            paraplegia 704
              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 + 466
paths to the root