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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:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:34587489 NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927
JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
JBrowse link
G Akt1 AKT serine/threonine kinase 1 IEP mRNA:decreased expression:soleus RGD PMID:18236467 RGD:5509082 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21620353 PMID:21937992 More... NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
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 chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128
JBrowse link
G Arhgef25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:63,005,938...63,013,325
Ensembl chr 7:63,005,940...63,013,719
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 8:75,779,640...75,802,474
Ensembl chr 8:75,779,523...75,802,452
Ensembl chr 8:75,779,523...75,802,452
JBrowse link
G Arsi arylsulfatase family, member I ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 NCBI chr18:54,364,160...54,371,772
Ensembl chr18:54,364,088...54,371,767
JBrowse link
G Ash2l ASH2 like histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061
JBrowse link
G Atg7 autophagy related 7 IEP RGD PMID:23055316 RGD:11557990 NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
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 8:75,694,828...75,772,565
Ensembl chr 8:75,695,022...75,772,549
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:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989
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 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190
JBrowse link
G Bag4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:66,288,678...66,305,893
Ensembl chr16:66,288,678...66,308,663
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
JBrowse link
G Bcar1 BCAR1 scaffold protein, Cas family member ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:39,679,215...39,713,907
Ensembl chr19:39,679,204...39,713,907
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 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:soleus muscle RGD PMID:23055316 RGD:11557990 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:26998597 PMID:28492532 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
JBrowse link
G Birc6 baculoviral IAP repeat-containing 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434
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 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
JBrowse link
G Brf2 BRF2, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:64,928,334...64,933,057
Ensembl chr16:64,928,300...64,933,059
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 chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
JBrowse link
G Cfdp1 craniofacial development protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:39,718,313...39,823,824
Ensembl chr19:39,718,347...39,823,824
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 chr20:149,337...164,375
Ensembl chr20:148,907...164,355
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 chr18:125,308...132,163
Ensembl chr18:125,227...132,160
JBrowse link
G Cpt1c carnitine palmitoyltransferase 1c ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 NCBI chr 1:95,442,814...95,457,347
Ensembl chr 1:95,442,817...95,457,342
JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201
JBrowse link
G Ctrb1 chymotrypsinogen B1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:39,652,931...39,657,689
Ensembl chr19:39,652,933...39,657,688
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 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
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:15007371 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:63,092,061...63,107,560
Ensembl chr 7:63,092,057...63,108,543
JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
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 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432
JBrowse link
G Dtx3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:63,013,769...63,018,431
Ensembl chr 7:63,013,371...63,018,522
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:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821
JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
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 chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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 chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168
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 chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362
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:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Foxo4 forkhead box O4 IEP protein:increased expression:skeletal muscle: RGD PMID:18236467 RGD:5509082 NCBI chr  X:66,385,241...66,392,115
Ensembl chr  X:66,385,558...66,392,115
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 chr18:128,473...138,232
Ensembl chr18:132,248...138,345
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
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 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272
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 chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
JBrowse link
G Glg1 golgi glycoprotein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:39,124,892...39,224,178
Ensembl chr19:39,124,641...39,224,178
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 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069
JBrowse link
G Got1l1 glutamic-oxaloacetic transaminase 1-like 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:64,860,308...64,873,656
Ensembl chr16:64,860,704...64,866,162
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:82,362,531...82,363,105
Ensembl chr  X:82,362,633...82,362,983
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:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:32707086 PMID:33188300 PMID:33970200 NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:17420924 PMID:17576681 PMID:18414213 PMID:21520333 More... NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Htra4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:67,001,605...67,015,074
Ensembl chr16:67,001,605...67,015,074
JBrowse link
G Iba57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr10:43,942,017...43,950,807
Ensembl chr10:43,942,017...43,950,807
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:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
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:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
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:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G Irf2bpl interferon regulatory factor 2 binding protein-like ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 NCBI chr 6:106,527,179...106,531,294
Ensembl chr 6:106,528,053...106,530,401
JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15586325 PMID:16199547 PMID:18414213 PMID:18697827 PMID:22326837 More... NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:24088041 PMID:25265257 PMID:25326635 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Lage3 L antigen 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:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632
JBrowse link
G Ldhd lactate dehydrogenase D ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:39,583,529...39,588,397
Ensembl chr19:39,573,621...39,595,575
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 8:76,199,547...76,223,983
Ensembl chr 8:76,199,099...76,223,983
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 chr16:66,464,958...66,489,640
Ensembl chr16:66,469,111...66,489,704
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852
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 8:76,378,984...76,394,396
Ensembl chr 8:76,379,219...76,394,654
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 8:76,146,650...76,169,767
Ensembl chr 8:76,146,690...76,169,720
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
JBrowse link
G Mbd6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 7:63,107,562...63,115,841
Ensembl chr 7:63,107,562...63,113,274
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:34,926,198...35,051,722
Ensembl chr15:34,926,207...35,051,727
JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:39,277,526...39,304,555
Ensembl chr19:39,276,785...39,304,502
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 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 chr18:126,189...130,123 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 6:488,923...506,882
Ensembl chr 6:488,969...506,860
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 chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
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 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
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 8:75,989,497...76,066,485
Ensembl chr 8:75,989,528...76,066,483
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:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
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 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:32581362 NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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 chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nsd3 nuclear receptor binding SET domain protein 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
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 8:75,599,432...75,633,598
Ensembl chr 8:75,599,740...75,627,277
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826
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 7:63,020,004...63,035,086
Ensembl chr 7:63,020,000...63,035,078
JBrowse link
G Plekha2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:66,938,684...67,000,661
Ensembl chr16:66,939,109...66,999,395
JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:65,003,292...65,014,886
Ensembl chr16:65,002,223...65,014,886
JBrowse link
G Plpp5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:66,349,483...66,353,887
Ensembl chr16:66,349,502...66,464,797
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674
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:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446
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:150,906,080...150,912,674
Ensembl chr  X:150,906,278...150,910,839
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:150,880,865...150,882,789
Ensembl chr  X:150,880,865...150,882,789
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:151,103,531...151,108,630
Ensembl chr  X:151,103,755...151,106,037
JBrowse link
G Rab11fip1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:64,886,902...64,917,491
Ensembl chr16:64,884,676...64,917,491
JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 6:97,979,377...97,995,252
Ensembl chr 6:97,979,378...97,995,252
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
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 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Rfwd3 ring finger and WD repeat domain 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:39,235,883...39,268,479
Ensembl chr19:39,236,787...39,268,479
JBrowse link
G Ribc1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr  X:21,091,717...21,103,688
Ensembl chr  X:21,091,717...21,103,200
JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:31636353 NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761
JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22232211 PMID:25741868 More... NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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 8:76,399,777...76,442,015
Ensembl chr 8:76,399,777...76,442,015
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 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18285821 PMID:18398442 PMID:19031088 PMID:19208398 PMID:19892370 More... NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
JBrowse link
G Slc10a3 solute carrier family 10, 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:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958
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:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771
JBrowse link
G Slc19a3 solute carrier family 19 member 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 NCBI chr 9:84,275,722...84,299,368
Ensembl chr 9:84,277,024...84,299,337
JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:32581362 NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:22243965 PMID:24583203 PMID:25741868 PMID:26467025 PMID:27306358 More... NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056
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 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202
JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link
G Tacc1 transforming, acidic coiled-coil containing protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:66,812,232...66,895,736
Ensembl chr16:66,812,295...66,895,733
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
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 4:158,021,454...158,028,905 JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208
JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226
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 chr20:91,234...138,942
Ensembl chr20:91,272...140,386
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 8:76,316,736...76,366,003
Ensembl chr 8:76,325,667...76,365,720
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 8:76,248,978...76,310,855
Ensembl chr 8:76,248,979...76,310,977
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 8:54,413,503...54,455,512
Ensembl chr 8:54,414,457...54,500,079
JBrowse link
G Tnfrsf19 TNF receptor superfamily member 19 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr15:35,092,206...35,158,472
Ensembl chr15:35,092,206...35,180,795
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:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479
JBrowse link
G Ttc27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 6:20,558,756...20,702,126
Ensembl chr 6:20,558,756...20,702,115
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069
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 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
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 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:24215330 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
JBrowse link
G Wdr59 WD repeat domain 59 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:39,416,432...39,483,773
Ensembl chr19:39,416,429...39,483,698
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 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
JBrowse link
G Yipf4 Yip1 domain family, member 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 6:20,950,774...20,962,195
Ensembl chr 6:20,950,501...20,962,229
JBrowse link
G Zfp1 zinc finger protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:39,599,497...39,633,490
Ensembl chr19:39,599,954...39,632,995
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:150,831,869...150,877,652
Ensembl chr  X:150,831,862...150,874,810
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:151,116,794...151,142,451
Ensembl chr  X:151,117,102...151,143,177
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 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:16199547 PMID:16826525 PMID:17576681 PMID:18606302 PMID:24668814 More... NCBI chr 1:240,979,831...241,003,193
Ensembl chr 1:240,979,842...241,003,193
JBrowse link
G Znrf1 zinc and ring finger 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr19:39,496,414...39,581,600
Ensembl chr19:39,496,527...39,580,969
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 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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: Costeff optic atrophy syndrome
OMIM:258501
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469
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 3:58,810,535...58,813,185
Ensembl chr 3:58,810,535...58,814,279
JBrowse link
Hereditary Spastic Paralysis, Infantile Onset Ascending term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11586297 PMID:11586298 PMID:12145748 PMID:12509863 More... NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
JBrowse link
hereditary spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Complex hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927
JBrowse link
G Adam28 ADAM metallopeptidase domain 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr15:43,774,463...43,840,726
Ensembl chr15:42,944,467...43,840,672
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 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
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 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
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 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:26350204 PMID:26544806 PMID:28492532 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
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 chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289
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 chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511
JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524
JBrowse link
G Arsi arylsulfatase family, member I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr18:54,364,160...54,371,772
Ensembl chr18:54,364,088...54,371,767
JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:15596607 More... NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
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 chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 ISS MouseDO NCBI chr 1:245,564,347...245,578,182
Ensembl chr 1:245,564,369...245,579,343
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 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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 2:82,591,750...82,602,903
Ensembl chr 2:82,590,630...82,602,930
JBrowse link
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
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 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
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 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
CTD
ClinVar
PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
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 chr15:18,824,389...18,891,036
Ensembl chr15:18,824,394...18,890,952
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 chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023
JBrowse link
G Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 5:154,073,372...154,106,246
Ensembl chr 5:154,075,261...154,106,136
JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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 1:242,921,147...242,956,472
Ensembl chr 1:242,921,152...242,956,394
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:32147972 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25741868 More... NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
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 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:204,275,785...204,292,844
Ensembl chr 1:204,275,367...204,353,750
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:20593214 PMID:23332916 PMID:23332917 PMID:25741868 PMID:26220345 More... NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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 chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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:18414213 PMID:22552817 PMID:24033266 PMID:25741868 More... RGD:1624200, RGD:1624200 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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:25265257 PMID:25585697 More... RGD:12911231 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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 chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
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 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:103,086,959...103,126,305
Ensembl chr 8:103,086,630...103,126,024
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:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:204,246,238...204,387,027
Ensembl chr 1:204,246,166...204,389,716
JBrowse link
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 PMID:31402626 NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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 chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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 chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
JBrowse link
G Myt1 myelin transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 3:168,890,466...168,950,341
Ensembl chr 3:168,886,089...168,950,341
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 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
JBrowse link
G Nrg1 neuregulin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
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 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10319897 PMID:15712223 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032
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: Spastic Paraplegia, Recessive
CTD
ClinVar
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20382209 PMID:20603202 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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 chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10319897 PMID:15712223 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:16199547 PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 More... NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 2:76,335,609...76,474,817
Ensembl chr 2:76,335,609...76,493,898
JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069
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: Pure or complex autosomal recessive spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar PMID:10610707 PMID:10655055 PMID:11788093 PMID:14718706 PMID:15156359 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:24583203 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35588347 NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
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 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248
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 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 More... NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin susceptibility ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar
RGD
PMID:14564668 PMID:16199547 PMID:25741868 PMID:26467025 PMID:28492532 More... RGD:1556574 NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536
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 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
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:35982159 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr 3:114,012,104...114,035,468
Ensembl chr 3:114,011,702...114,035,476
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 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
JBrowse link
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:51,736,170...51,775,384
Ensembl chr16:51,737,481...51,775,390
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 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
JBrowse link
G Wdr48 WD repeat domain 48 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 8:119,622,053...119,655,264
Ensembl chr 8:119,622,048...119,655,264
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 2:61,137,611...61,200,322
Ensembl chr 2:61,137,611...61,200,322
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 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
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 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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)
ClinVar
OMIM
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 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
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 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:26467025 PMID:28492532 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 1:240,979,831...241,003,193
Ensembl chr 1:240,979,842...241,003,193
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 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
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 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM ClinVar PMID:21507300 PMID:23053473 PMID:24069319 PMID:25741868 PMID:28492532 NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
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 11, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum
OMIM:604360
CTD Direct Evidence: marker/mechanism
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
MouseDO
CTD
PMID:2223744 PMID:2795747 PMID:9536098 PMID:16199547 PMID:16773502 More... NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041
JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
JBrowse link
hereditary spastic paraplegia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtn2 reticulon 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 12
OMIM
CTD
ClinVar
PMID:10677333 PMID:12427890 PMID:22232211 PMID:25741868 PMID:26467025 More... NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069
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
OMIM:605280
ClinVar Annotator: match by term: Hereditary spastic paraplegia 13
CTD Direct Evidence: marker/mechanism
OMIM
MouseDO
ClinVar
CTD
RGD
PMID:10677329 PMID:12483302 PMID:17420924 PMID:18414213 PMID:18571143 More... RGD:10402832 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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
OMIM:270700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Recessive spastic paraplegia with retinal degeneration
OMIM
MouseDO
CTD
ClinVar
PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 More... NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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 chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
JBrowse link
hereditary spastic paraplegia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 | 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 chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728
JBrowse link
G Plp1 proteolipid protein 1 ISO
ISS
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
OMIM:312920
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:1384324 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 More... NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:1384324 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 More... NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:25741868 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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:100,058,485...100,060,439
Ensembl chr  X:100,058,132...100,060,551
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:100,010,677...100,012,637
Ensembl chr  X:100,010,690...100,012,654
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:28492532 PMID:28566479 More... NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269
JBrowse link
hereditary spastic paraplegia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 26
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:25741868 More... NCBI chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190
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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Ddhd1 DDHD domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 28
OMIM
CTD
ClinVar
PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 More... NCBI chr15:18,824,389...18,891,036
Ensembl chr15:18,824,394...18,890,952
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 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
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 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236
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 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323
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 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011
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 9:92,120,332...92,140,790
Ensembl chr 9:92,120,306...92,136,376
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 9:94,282,417...94,314,109
Ensembl chr 9:94,282,509...94,314,103
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 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476
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 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
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 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317
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 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
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 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870
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 9:93,472,832...93,474,207 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 9:91,956,971...91,964,846
Ensembl chr 9:91,956,977...91,964,846
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 9:91,912,038...91,936,803
Ensembl chr 9:91,912,049...91,935,292
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 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212
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 9:94,382,456...94,387,990 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 9:93,396,234...93,424,047
Ensembl chr 9:93,396,234...93,424,047
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 9:93,527,165...93,539,573
Ensembl chr 9:93,527,127...93,539,299
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 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048
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 9:92,001,849...92,003,562
Ensembl chr 9:92,001,841...92,003,559
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 9:91,966,440...91,988,791
Ensembl chr 9:91,966,441...91,988,892
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 9:94,326,549...94,343,392
Ensembl chr 9:94,326,548...94,344,220
JBrowse link
G Kif1a kinesin family member 1A ISO
ISS
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive
OMIM:610357
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.A255V (human)
DNA:missense mutations: :p.A255V, p.R350G (human)
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:9536098 PMID:16081310 PMID:16199547 PMID:16434418 PMID:17576681 More... RGD:12911228, RGD:12911224 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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 9:91,942,475...91,952,756
Ensembl chr 9:91,942,504...91,952,730
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 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250
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 9:93,690,455...93,701,267
Ensembl chr 9:93,690,999...93,700,506
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 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
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 9:93,834,162...93,838,838
Ensembl chr 9:93,834,144...93,838,864
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 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560
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 9:94,396,920...94,402,576
Ensembl chr 9:94,396,920...94,402,576
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 9:93,048,475...93,049,413
Ensembl chr 9:93,045,014...93,053,641
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 9:93,216,948...93,220,614
Ensembl chr 9:93,216,948...93,218,466
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 9:93,844,275...93,886,036
Ensembl chr 9:93,844,278...93,885,111
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 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
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 9:93,886,068...93,911,198
Ensembl chr 9:93,886,143...93,914,850
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 9:91,543,128...91,549,022
Ensembl chr 9:91,547,901...91,548,818
JBrowse link
G Prr21 proline rich 21 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More...
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 9:91,552,924...91,566,759
Ensembl chr 9:91,553,464...91,566,451
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 9:91,765,481...91,816,152
Ensembl chr 9:91,781,285...91,816,151
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 9:91,731,153...91,756,783
Ensembl chr 9:91,731,115...91,756,772
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 9:93,476,600...93,486,331
Ensembl chr 9:93,472,390...93,486,331
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 9:91,890,269...91,910,947
Ensembl chr 9:91,890,306...91,910,941
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 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386
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 9:93,774,087...93,834,003
Ensembl chr 9:93,774,119...93,830,694
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 9:94,161,834...94,174,095
Ensembl chr 9:94,161,836...94,174,244
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 9:94,242,581...94,282,312
Ensembl chr 9:94,242,581...94,282,306
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 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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 9:91,845,975...91,881,145
Ensembl chr 9:91,845,987...91,880,594
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 4:104,259,992...104,292,168
Ensembl chr 4:104,259,992...104,292,168
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 4:104,402,553...104,408,317
Ensembl chr 4:104,402,588...104,408,320
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 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063
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 4:103,880,482...103,919,116
Ensembl chr 4:103,880,459...103,919,109
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 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493
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 4:103,865,812...103,876,687
Ensembl chr 4:103,865,812...103,880,887
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 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020
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 4:103,922,440...103,957,445
Ensembl chr 4:103,920,566...103,957,538
JBrowse link
G Reep1 receptor accessory protein 1 ISO
ISS
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
OMIM:610250
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:16826527 PMID:17576681 PMID:18321925 More... NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
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 4:104,414,586...104,421,433
Ensembl chr 4:104,414,605...104,421,309
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 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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 4:104,134,613...104,192,558
Ensembl chr 4:104,134,613...104,192,558
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 4:104,410,271...104,414,630
Ensembl chr 4:104,410,516...104,429,349
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 4:104,373,948...104,406,359
Ensembl chr 4:104,373,955...104,406,359
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 4:104,423,813...104,435,059
Ensembl chr 4:104,423,820...104,426,212
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 4:104,442,383...104,452,884
Ensembl chr 4:104,442,393...104,452,897
JBrowse link
hereditary spastic paraplegia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:28492532 NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:25741868 NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: Spastic tetraparesis
OMIM
CTD
ClinVar
PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28492532 More... NCBI chr 1:240,979,831...241,003,193
Ensembl chr 1:240,979,842...241,003,193
JBrowse link
hereditary spastic paraplegia 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fa2h fatty acid 2-hydroxylase ISO
ISS
ClinVar Annotator: match by term: Hereditary spastic paraplegia 35
OMIM:612319
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19068277 More... NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
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 chr12:1,395,035...1,503,082
Ensembl chr12:1,395,088...1,503,081
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 chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,502,606...1,532,347
Ensembl chr12:1,503,646...1,512,585
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: NTE related motor neuron disorder | ClinVar Annotator: match by term: Spastic paraplegia 39
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3963113 PMID:8053762 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Saxo5 stabilizer of axonemal microtubules 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,520,983...1,538,127
Ensembl chr12:1,521,014...1,538,118
JBrowse link
G Zfp358 zinc finger protein 358 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,552,367...1,556,460
Ensembl chr12:1,552,366...1,556,460
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:2255281 PMID:4684346 PMID:8252041 PMID:8981948 PMID:9246006 More... NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
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 chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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 6:88,284,087...88,377,118
Ensembl chr 6:88,284,094...88,376,799
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 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434
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 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432
JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
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 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349
JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561
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 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
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:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127
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 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785
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: Spastic paraplegia 4, autosomal dominant | 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:9536098 PMID:9695811 PMID:10493830 PMID:10610178 PMID:10699187 More... NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
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:28,004,051...28,015,336
Ensembl chr  X:27,994,054...28,015,346
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 6:20,558,756...20,702,126
Ensembl chr 6:20,558,756...20,702,115
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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 6:20,950,774...20,962,195
Ensembl chr 6:20,950,501...20,962,229
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 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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 chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 45
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19415352 PMID:24482476 More... NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
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 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 46
OMIM
CTD
ClinVar
PMID:16199547 PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 More... NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21440262 More... NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
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 2:190,692,503...190,700,386
Ensembl chr 2:190,692,461...190,700,389
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 2:191,338,959...191,344,078
Ensembl chr 2:191,338,959...191,344,078
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 2:192,319,696...192,364,755
Ensembl chr 2:192,319,702...192,364,480
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 2:190,546,015...190,582,787
Ensembl chr 2:190,554,980...190,582,784
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 2:192,507,963...192,554,548
Ensembl chr 2:192,507,963...192,541,101
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 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
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 2:190,622,357...190,690,489
Ensembl chr 2:190,622,940...190,690,488
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 2:191,248,817...191,299,787
Ensembl chr 2:191,248,817...191,298,902
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 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
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 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579
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 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735
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 2:192,292,041...192,315,142
Ensembl chr 2:192,293,470...192,315,083
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 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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 2:191,244,221...191,247,050
Ensembl chr 2:191,244,221...191,247,050
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 2:191,470,849...191,537,399
Ensembl chr 2:191,473,130...191,512,078
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 2:192,278,597...192,283,883
Ensembl chr 2:192,278,517...192,283,882
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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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 2:192,287,065...192,293,292
Ensembl chr 2:192,287,130...192,295,306
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 2:191,416,631...191,470,711
Ensembl chr 2:191,416,631...191,470,711
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 2:190,518,002...190,525,833
Ensembl chr 2:190,518,002...190,525,832
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 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
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 2:192,364,594...192,434,414
Ensembl chr 2:192,364,594...192,487,190
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 2:190,296,688...190,456,687
Ensembl chr 2:190,296,954...190,456,737
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 2:191,093,009...191,152,283
Ensembl chr 2:191,093,007...191,149,956
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 2:192,264,153...192,280,356
Ensembl chr 2:192,267,093...192,274,019
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 2:190,812,329...190,892,663
Ensembl chr 2:190,807,243...190,888,814
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 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308
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
OMIM:613647
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20613862 PMID:24033266 More... NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511
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 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: Inherited spastic paresis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23176824 PMID:25590979 More... NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
JBrowse link
hereditary spastic paraplegia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 More... NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 51
OMIM
CTD
ClinVar
PMID:18414213 PMID:20972249 PMID:21937992 PMID:23472171 PMID:25741868 More... NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
JBrowse link
G Sppl2a signal peptide peptidase-like 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:21620353 PMID:23167973 PMID:24700674 More... NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
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 chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
JBrowse link
G Cnot7 CCR4-NOT transcription complex, subunit 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,775,416...51,794,581
Ensembl chr16:51,775,412...51,794,576
JBrowse link
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,995,210...21,330,586
Ensembl chr16:21,235,784...21,330,319
JBrowse link
G Fgf20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:52,030,549...52,038,201
Ensembl chr16:52,010,194...52,038,204
JBrowse link
G Fgl1 fibrinogen-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,120,652...51,150,907
Ensembl chr16:51,120,694...51,151,093
JBrowse link
G Ints10 integrator complex subunit 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,915,223...20,947,146
Ensembl chr16:20,916,082...20,967,610
JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Lzts1 leucine zipper tumor suppressor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203
JBrowse link
G Micu3 mitochondrial calcium uptake family, member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,919,859...52,010,705
Ensembl chr16:51,925,225...52,010,613
JBrowse link
G Mtmr7 myotubularin related protein 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,641,267...51,732,212
Ensembl chr16:51,641,190...51,732,182
JBrowse link
G Mtus1 microtubule associated scaffold protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793
JBrowse link
G Nat1 N-acetyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:22,218,217...22,238,516
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Nat2 N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Pcm1 pericentriolar material 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,008,315...51,105,261
Ensembl chr16:51,008,315...51,105,091
JBrowse link
G Pdgfrl platelet-derived growth factor receptor-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,347,929...51,407,850
Ensembl chr16:51,347,948...51,407,850
JBrowse link
G Psd3 pleckstrin and Sec7 domain containing 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:21,465,643...22,035,846
Ensembl chr16:21,465,639...22,034,547
JBrowse link
G Sh2d4a SH2 domain containing 4A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:21,339,010...21,409,360
Ensembl chr16:21,340,015...21,409,260
JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:20,653,268...20,687,051
Ensembl chr16:20,653,508...20,687,051
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784
JBrowse link
G Vps37a VPS37A subunit of ESCRT-I ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22717650 PMID:25741868 More... NCBI chr16:51,736,170...51,775,384
Ensembl chr16:51,737,481...51,775,390
JBrowse link
G Zdhhc2 zinc finger DHHC-type palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar PMID:28492532 NCBI chr16:51,808,465...51,878,060
Ensembl chr16:51,808,468...51,878,060
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 chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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 chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061
JBrowse link
G Bag4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,288,678...66,305,893
Ensembl chr16:66,288,678...66,308,663
JBrowse link
G Brf2 BRF2, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,928,334...64,933,057
Ensembl chr16:64,928,300...64,933,059
JBrowse link
G Ddhd2 DDHD domain containing 2 ISO
ISS
OMIM:615033
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
OMIM
MouseDO
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:16636240 PMID:17576681 PMID:23176823 More... NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023
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 chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Got1l1 glutamic-oxaloacetic transaminase 1-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,860,308...64,873,656
Ensembl chr16:64,860,704...64,866,162
JBrowse link
G Htra4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:67,001,605...67,015,074
Ensembl chr16:67,001,605...67,015,074
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 chr16:66,464,958...66,489,640
Ensembl chr16:66,469,111...66,489,704
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852
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 chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423
JBrowse link
G Plekha2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,938,684...67,000,661
Ensembl chr16:66,939,109...66,999,395
JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:65,003,292...65,014,886
Ensembl chr16:65,002,223...65,014,886
JBrowse link
G Plpp5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,349,483...66,353,887
Ensembl chr16:66,349,502...66,464,797
JBrowse link
G Rab11fip1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,886,902...64,917,491
Ensembl chr16:64,884,676...64,917,491
JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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 chr16:66,812,232...66,895,736
Ensembl chr16:66,812,295...66,895,733
JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226
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 chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
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: Hereditary spastic paraplegia 56
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:615030 PMID:14660610 PMID:23176821 PMID:25558065 PMID:25741868 More... NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 More... NCBI chr11:43,885,542...43,911,976
Ensembl chr11:43,885,661...43,911,976
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 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
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 NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1943942 PMID:7987300 PMID:9536098 PMID:9802883 PMID:12874406 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
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 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
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 1:106,799,979...106,824,206
Ensembl chr 1:106,800,903...106,824,126
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 1:106,636,526...106,672,175
Ensembl chr 1:106,636,526...106,672,175
JBrowse link
hereditary spastic paraplegia 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6ip1 ADP-ribosylation factor like GTPase 6 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 61
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:27848944 More... NCBI chr 1:172,430,475...172,439,990
Ensembl chr 1:172,430,489...172,439,994
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 62
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 More... NCBI chr 1:242,921,147...242,956,472
Ensembl chr 1:242,921,152...242,956,394
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 2:195,294,149...195,328,586
Ensembl chr 2:195,294,153...195,345,815
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 2:196,385,149...196,432,319
Ensembl chr 2:196,393,535...196,432,309
JBrowse link
G Alx3 ALX homeobox 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,231,197...195,241,609
Ensembl chr 2:195,231,197...195,241,609
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 2:195,823,138...195,828,593
Ensembl chr 2:195,823,042...195,829,585
JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 | ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23911318 PMID:24482476 More... NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
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 2:195,838,920...195,847,339
Ensembl chr 2:195,838,981...195,847,315
JBrowse link
G Cd53 Cd53 molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,352,139...194,399,668
Ensembl chr 2:194,352,139...194,399,657
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 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
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 2:196,166,009...196,177,919
Ensembl chr 2:196,166,009...196,177,919
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 2:196,296,350...196,326,914
Ensembl chr 2:196,296,393...196,326,913
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 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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 2:195,834,884...195,837,524
Ensembl chr 2:195,834,740...195,838,243
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 2:194,035,624...194,064,415
Ensembl chr 2:194,035,818...194,063,403
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 2:196,608,499...196,663,371
Ensembl chr 2:196,608,499...196,663,371
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 2:196,089,199...196,169,055
Ensembl chr 2:196,091,646...196,168,716
JBrowse link
G Eps8l3 EPS8 like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,514,692...195,528,085
Ensembl chr 2:195,514,692...195,528,085
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 2:196,501,313...196,537,816
Ensembl chr 2:196,502,460...196,537,694
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 2:195,742,765...195,780,720
Ensembl chr 2:195,742,642...195,780,742
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 2:195,726,371...195,735,866
Ensembl chr 2:195,726,762...195,735,866
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 2:195,781,931...195,789,798
Ensembl chr 2:195,782,752...195,789,621
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 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154
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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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 2:195,624,015...195,628,774
Ensembl chr 2:195,544,426...195,628,961
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 2:195,667,940...195,685,315
Ensembl chr 2:195,680,004...195,685,323
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 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
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 2:195,544,424...195,549,895
Ensembl chr 2:195,544,426...195,628,961
JBrowse link
G Henmt1 HEN methyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,585,732...196,603,700
Ensembl chr 2:196,586,797...196,599,738
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 2:194,786,500...194,798,575
Ensembl chr 2:194,786,500...194,798,575
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 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
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 2:194,632,106...194,634,059
Ensembl chr 2:194,632,196...194,650,138
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 2:195,063,967...195,100,244
Ensembl chr 2:195,071,769...195,099,233
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 2:194,900,038...194,905,394
Ensembl chr 2:194,900,038...194,905,395
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 2:194,231,397...194,322,489
Ensembl chr 2:194,230,951...194,322,483
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 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824
JBrowse link
G Prok1 prokineticin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:194,850,539...194,859,343
Ensembl chr 2:194,853,991...194,859,250
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 2:196,553,224...196,562,271
Ensembl chr 2:196,553,225...196,562,250
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 2:195,896,369...195,919,733
Ensembl chr 2:195,896,365...195,919,731
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 2:196,022,361...196,026,874
Ensembl chr 2:196,022,361...196,026,874
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 2:194,945,974...194,954,498
Ensembl chr 2:194,945,974...194,954,703
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 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277
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 2:194,911,075...194,933,162
Ensembl chr 2:194,911,236...194,933,117
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 2:196,761,076...196,799,236
Ensembl chr 2:196,761,274...196,799,231
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 2:195,107,434...195,155,697
Ensembl chr 2:195,107,438...195,155,697
JBrowse link
G Sort1 sortilin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,924,033...196,002,354
Ensembl chr 2:195,924,099...196,002,354
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 2:195,248,384...195,268,330
Ensembl chr 2:195,248,386...195,268,481
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 2:196,442,738...196,485,733
Ensembl chr 2:196,442,634...196,485,671
JBrowse link
G Sypl2 synaptophysin-like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,849,062...195,863,794
Ensembl chr 2:195,849,062...195,863,794
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 2:196,205,219...196,215,882
Ensembl chr 2:196,205,243...196,215,878
JBrowse link
G Tmem167b transmembrane protein 167B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:196,194,355...196,198,134
Ensembl chr 2:196,192,185...196,198,158
Ensembl chr20:196,192,185...196,198,158
JBrowse link
G Ubl4b ubiquitin-like 4B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 2:195,192,490...195,193,820
Ensembl chr 2:195,191,720...195,193,875
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 2:196,226,757...196,287,739
Ensembl chr 2:196,205,238...196,287,739
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 64
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
JBrowse link
hereditary spastic paraplegia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type ClinVar PMID:25326637 PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
JBrowse link
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin ISS OMIM:607259 MouseDO NCBI chr19:51,117,088...51,151,228
Ensembl chr19:51,117,057...51,150,484
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 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524
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 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 72 | ClinVar Annotator: match by term: Spastic paraplegia 72B, autosomal recessive
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:24388663 PMID:24482476 PMID:25741868 More... NCBI chr18:26,438,130...26,447,165
Ensembl chr18:26,438,346...26,447,161
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 73
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25751282 More... NCBI chr 1:95,442,814...95,457,347
Ensembl chr 1:95,442,817...95,457,342
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 ClinVar PMID:25741868 NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 | ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:23462291 PMID:25609768 PMID:25741868 More... NCBI chr10:43,942,017...43,950,807
Ensembl chr10:43,942,017...43,950,807
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 1:85,563,511...85,568,977
Ensembl chr 1:85,563,592...85,568,973
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 1:85,696,880...85,707,215
Ensembl chr 1:85,696,882...85,707,155
JBrowse link
G Arhgap33 Rho GTPase activating protein 33 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,776,112...85,789,767
Ensembl chr 1:85,776,108...85,789,678
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 1:85,961,607...85,974,972
Ensembl chr 1:85,961,708...85,974,844
JBrowse link
G Capns1 calpain, small subunit 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,444,613...85,454,861
Ensembl chr 1:85,444,608...85,454,795
JBrowse link
G Cd22 CD22 molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,116,376...86,132,782
Ensembl chr 1:86,117,459...86,132,322
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
JBrowse link
G Cebpg CCAAT/enhancer binding protein gamma ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,683,060...87,692,772
Ensembl chr 1:87,684,019...87,694,569
JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,058,211...88,100,114
Ensembl chr 1:88,058,227...88,100,112
JBrowse link
G Chst8 carbohydrate sulfotransferase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,294,144...87,435,900
Ensembl chr 1:87,294,540...87,435,900
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 1:85,547,170...85,563,187
Ensembl chr 1:85,547,206...85,563,184
JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001
Ensembl chr 2:85,875,109...85,884,001
JBrowse link
G Cox7a1 cytochrome c oxidase subunit 7A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,422,162...85,447,530
Ensembl chr 1:85,441,871...85,445,151
JBrowse link
G Dmkn dermokine ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,013,237...86,031,243
Ensembl chr 1:86,014,188...86,030,006
JBrowse link
G Etv2 ETS variant transcription factor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,890,562...85,894,025
Ensembl chr 1:85,890,559...85,893,431
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 1:88,051,523...88,057,997
Ensembl chr 1:88,051,911...88,057,989
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 1:86,205,234...86,219,542
Ensembl chr 1:86,205,218...86,219,917
JBrowse link
G Ffar1 free fatty acid receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,111,368...86,112,272
Ensembl chr 1:86,111,368...86,112,272
JBrowse link
G Ffar2 free fatty acid receptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,071,855...86,075,049
Ensembl chr 1:86,072,184...86,075,033
JBrowse link
G Ffar3 free fatty acid receptor 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,105,388...86,106,728
Ensembl chr 1:86,104,920...86,106,849
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 1:86,287,163...86,291,478
Ensembl chr 1:86,287,165...86,291,278
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 1:86,305,531...86,312,455 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 1:86,267,937...86,277,329
Ensembl chr 1:86,267,406...86,277,519
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 1:86,277,678...86,286,954
Ensembl chr 1:86,277,678...86,286,954
JBrowse link
G Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,979,096...85,994,153
Ensembl chr 1:85,979,098...85,993,640
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 1:86,862,121...86,939,725
Ensembl chr 1:86,862,121...86,939,687
JBrowse link
G Gpatch1 G patch domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,925,606...87,974,544
Ensembl chr 1:87,925,618...87,974,544
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
JBrowse link
G Gramd1a GRAM domain containing 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,367,001...86,393,348
Ensembl chr 1:86,367,001...86,393,336
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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 1:85,912,371...85,924,327
Ensembl chr 1:85,912,374...85,923,337
JBrowse link
G Hcst hematopoietic cell signal transducer ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,676,976...85,679,083
Ensembl chr 1:85,676,979...85,679,012
JBrowse link
G Hpn hepsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,337,085...86,352,785
Ensembl chr 1:86,337,087...86,352,811
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 1:85,806,898...85,809,072
Ensembl chr 1:85,806,146...85,809,071
JBrowse link
G Igflr1 IGF-like family receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,818,428...85,821,032
Ensembl chr 1:85,816,326...85,821,030
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 1:87,258,658...87,271,979
Ensembl chr 1:87,258,658...87,273,497
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 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
JBrowse link
G Krtdap keratinocyte differentiation associated protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,038,296...86,041,594
Ensembl chr 1:86,038,437...86,041,455
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 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
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 1:85,809,065...85,813,235
Ensembl chr 1:85,809,074...85,812,991
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 1:85,616,862...85,623,725
Ensembl chr 1:85,616,868...85,623,725
JBrowse link
G Lrp3 LDL receptor related protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,843,815...87,859,147
Ensembl chr 1:87,844,868...87,859,110
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 1:86,964,800...87,009,325
Ensembl chr 1:86,964,828...87,009,276
JBrowse link
G Lsr lipolysis stimulated lipoprotein receptor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,185,769...86,201,952
Ensembl chr 1:86,186,431...86,201,952
JBrowse link
G Mag myelin-associated glycoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26179919 More... NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,679,353...85,690,415
Ensembl chr 1:85,680,861...85,690,447
JBrowse link
G Nudt19 nudix hydrolase 19 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,214,475...88,226,072
Ensembl chr 1:88,214,480...88,226,207
JBrowse link
G Ovol3 ovo-like zinc finger 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,484,956...85,488,592
Ensembl chr 1:85,484,956...85,488,592
JBrowse link
G Pdcd2l programmed cell death 2-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,810,292...86,822,554
Ensembl chr 1:86,810,292...86,822,554
JBrowse link
G Pepd peptidase D ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231
JBrowse link
G Polr2i RNA polymerase II subunit I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,483,515...85,484,952
Ensembl chr 1:85,483,515...85,484,952
JBrowse link
G Prodh2 proline dehydrogenase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,753,558...85,767,165
Ensembl chr 1:85,753,644...85,767,162
JBrowse link
G Proser3 proline and serine rich 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,793,363...85,806,682
Ensembl chr 1:85,793,358...85,805,909
JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192
JBrowse link
G Rbm42 RNA binding motif protein 42 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,898,618...85,908,569
Ensembl chr 1:85,898,625...85,908,573
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 1:88,249,438...88,250,151
Ensembl chr 1:88,249,438...88,250,151
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 1:87,991,143...88,051,895
Ensembl chr 1:87,991,144...88,051,902
JBrowse link
G Sbsn suprabasin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,978,970...86,006,034
Ensembl chr 1:86,001,567...86,006,034
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 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
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 1:85,576,207...85,577,156
Ensembl chr 1:85,576,041...85,577,366
Ensembl chr 1:85,576,041...85,577,366
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 1:87,829,084...87,845,073
Ensembl chr 1:87,829,175...87,845,071
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 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641
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 1:85,569,409...85,573,775
Ensembl chr 1:85,569,545...85,573,760
JBrowse link
G Tbcb tubulin folding cofactor B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,477,639...85,483,488
Ensembl chr 1:85,477,640...85,483,488
JBrowse link
G Tdrd12 tudor domain containing 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:88,133,271...88,205,729
Ensembl chr 1:88,133,373...88,205,705
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 1:85,977,028...85,978,848
Ensembl chr 1:85,977,025...85,978,868
JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848
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 1:85,816,268...85,818,462
Ensembl chr 1:85,815,101...85,818,462
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 1:86,775,239...86,802,685
Ensembl chr 1:86,775,244...86,802,682
JBrowse link
G Upk1a uroplakin 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,859,672...85,870,147
Ensembl chr 1:85,859,671...85,870,354
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 1:86,174,703...86,185,942
Ensembl chr 1:86,174,703...86,185,617
JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
JBrowse link
G Wdr88 WD repeat domain 88 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:87,884,316...87,924,719
Ensembl chr 1:87,884,323...87,924,695
JBrowse link
G Wtip WT1 interacting protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar PMID:28492532 NCBI chr 1:86,731,214...86,764,939
Ensembl chr 1:86,731,265...86,765,014
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 1:85,841,931...85,851,116
Ensembl chr 1:85,841,931...85,844,236
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 1:86,453,465...86,484,002 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27153400 PMID:27320912 More... NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 | ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive
OMIM
CTD
ClinVar
PMID:25741868 PMID:25851414 PMID:26553276 PMID:28492532 PMID:29126765 More... NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337
JBrowse link
G Lyrm4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive ClinVar PMID:25741868 NCBI chr17:28,746,457...28,861,849
Ensembl chr17:28,746,469...28,861,750
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12169656 PMID:16964263 PMID:18075584 PMID:18075585 PMID:18414213 More... NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
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 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:35986737 PMID:37650884 NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
CTD
OMIM
ClinVar
PMID:3340629 PMID:4514348 PMID:10203348 PMID:10563640 PMID:12408865 More... NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
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 chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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 chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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 7:90,936,112...91,173,435
Ensembl chr 7:90,936,112...91,164,899
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: WASHC5-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10797436 PMID:16199547 PMID:17160902 PMID:17576681 More... NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
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
OMIM:618418
ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant | ClinVar Annotator: match by term: UBAP1-related condition
OMIM
MouseDO
ClinVar
PMID:25741868 PMID:25741869 PMID:30929741 PMID:31203368 PMID:31515522 More... NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152
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 6:26,073,127...26,111,326
Ensembl chr 6:26,072,648...26,111,314
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 NCBI chr10:105,888,769...105,896,182
Ensembl chr10:105,888,775...105,896,172
JBrowse link
hereditary spastic paraplegia 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:32707086 PMID:33970200 NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233
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 chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
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 chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
JBrowse link
hereditary spastic paraplegia 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:34587489 PMID:34866177 NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927
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 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990
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 chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
JBrowse link
hereditary spastic paraplegia 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Spastic paraplegia 89, autosomal recessive OMIM
ClinVar
PMID:37119330 NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247
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 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214
JBrowse link
hereditary spastic paraplegia 90B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptssa serine palmitoyltransferase, small subunit A ISO ClinVar Annotator: match by term: Spastic paraplegia 90B, autosomal recessive OMIM
ClinVar
NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214
JBrowse link
hereditary spastic paraplegia 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:p.V243L, p.R252Q(human)
OMIM
ClinVar
CTD
RGD
PMID:8779323 PMID:9536098 PMID:9973297 PMID:16199547 PMID:17576681 More... RGD:11056004 NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26026163 PMID:26297558 More... NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ASPARTYL-tRNA SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity
OMIM
CTD
ClinVar
PMID:23643384 PMID:25527264 PMID:25741868 PMID:28492532 NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116
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 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
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:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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
OMIM:248900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:6024251 PMID:9536098 PMID:14564668 PMID:16199547 PMID:17576681 More... NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536
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 ClinVar
OMIM
PMID:36965478 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic ataxia 1
OMIM
CTD
ClinVar
PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
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 chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196
JBrowse link
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,383,450...55,401,838
Ensembl chr10:55,383,450...55,401,558
JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530
JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,370,531...55,375,921
Ensembl chr10:55,366,975...55,375,921
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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 chr10:55,401,989...55,414,364
Ensembl chr10:55,401,982...55,414,114
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:17273843 PMID:17576681 PMID:24319291 PMID:24482476 More... NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410
JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,377,249...55,383,404
Ensembl chr10:55,377,249...55,383,404
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 9:56,720,408...56,729,991
Ensembl chr 9:56,720,983...56,723,820
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471 PMID:21450511 PMID:24033266 PMID:24180463 PMID:25741868 NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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:35150594 PMID:36331550 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kidins220 kinase D-interacting substrate 220 ISO ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 More... NCBI chr 6:41,618,207...41,706,990
Ensembl chr 6:41,618,294...41,703,256
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:15050437 PMID:15208263 PMID:16945901 PMID:20075587 PMID:20472325 More... NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
spastic tetraplegia, thin corpus callosum, and progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a4 solute carrier family 1 member 4 ISO ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly OMIM
ClinVar
PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418
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: SPOAN syndrome
OMIM
CTD
ClinVar
PMID:24482476 PMID:25741868 PMID:26385635 PMID:28492532 NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
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 4:92,415,019...93,892,472
Ensembl chr 4:92,415,230...93,889,355
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 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          paraplegia 564
            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 + 447
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        Neurologic Manifestations 10029
          Paralysis 671
            paraplegia 564
              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 + 447
paths to the root