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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:Spinocerebellar Ataxias
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Accession:DOID:9002121 term browser browse the term
Definition:A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)
Synonyms:exact_synonym: cerebellar degeneration with slow eye movements;   dominantly inherited spinocerebellar ataxias;   dominantly-inherited spinocerebellar ataxia;   spinocerebellar ataxia;   spinocerebellar atrophies;   spinocerebellar atrophy
 narrow_synonym: SDSEM AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13;   SPINOCEREBELLAR ATAXIA, DOMINANT;   spinocerebellar ataxia, recessive
 primary_id: MESH:D020754
 xref: EFO:0002624

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Spinocerebellar Ataxias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955402:1,037,414...1,069,165
Ensembl chrNW_004955402:1,037,402...1,069,165 		JBrowse link
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive ClinVar PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 More... NCBI chrNW_004955420:27,572,561...27,682,099
Ensembl chrNW_004955420:27,572,561...27,696,269 		JBrowse link
G Atxn1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11719269 PMID:16122429 PMID:17322884 PMID:18337722 NCBI chrNW_004955483:9,159,877...9,559,453
Ensembl chrNW_004955483:9,536,261...9,552,321 		JBrowse link
G Atxn10 ataxin 10 susceptibility ISO DNA:repeat:intron 9 RGD PMID:11017075 RGD:1599410 NCBI chrNW_004955413:29,956,904...30,104,868
Ensembl chrNW_004955413:29,981,236...30,104,552 		JBrowse link
G Atxn1l ataxin 1 like ISO CTD Direct Evidence: therapeutic CTD PMID:17322884 NCBI chrNW_004955484:4,546,012...4,557,184
Ensembl chrNW_004955484:4,546,012...4,557,184 		JBrowse link
G Atxn2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19224595 PMID:20065139 NCBI chrNW_004955482:8,101,410...8,187,815
Ensembl chrNW_004955482:8,101,917...8,216,219 		JBrowse link
G Atxn7 ataxin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25664129 NCBI chrNW_004955517:1,897,050...1,980,428
Ensembl chrNW_004955517:1,892,757...1,980,524 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A onset ISO DNA:repeats:cds:
CTD Direct Evidence: marker/mechanism
protein:altered expression:Purkinje cell:		 RGD
CTD		 PMID:8988170 PMID:10369863 PMID:10945665 PMID:11985388 PMID:16899342 RGD:10054421 RGD:10054466 RGD:1358570 NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955451:11,136,885...11,194,321
Ensembl chrNW_004955451:11,137,214...11,194,036 		JBrowse link
G Capn1 calpain 1 ISO Ataxia, spinocerebellar, CAPN1-related OMIA PMID:2061870 PMID:4747697 PMID:15320590 PMID:22634896 PMID:22872628 More... NCBI chrNW_004955422:20,006,448...20,026,984
Ensembl chrNW_004955422:20,004,426...20,025,708 		JBrowse link
G Casp7 caspase 7 ISO RGD PMID:17646170 RGD:5684537 NCBI chrNW_004955431:18,685,408...18,723,221
Ensembl chrNW_004955431:18,686,190...18,723,524 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955438:13,585,469...13,708,170 JBrowse link
G Cic capicua transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18337722 NCBI chrNW_004955555:613,549...641,587
Ensembl chrNW_004955555:613,665...638,369 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29482223 NCBI chrNW_004955406:10,180,415...10,217,450
Ensembl chrNW_004955406:10,180,415...10,217,505 		JBrowse link
G Cwf19l1 CWF19 like cell cycle control factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955507:6,106,245...6,136,305
Ensembl chrNW_004955507:6,105,179...6,136,313 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26344056 PMID:26467025 More... NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025 		JBrowse link
G Elovl5 ELOVL fatty acid elongase 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955411:2,747,232...2,812,544
Ensembl chrNW_004955411:2,747,232...2,812,544 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:25741868 PMID:28492532 PMID:35401678 NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955403:22,502,625...22,618,513
Ensembl chrNW_004955403:22,502,625...22,619,211 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16122429 NCBI chrNW_004955423:2,024,084...2,032,530
Ensembl chrNW_004955423:2,022,417...2,033,149 		JBrowse link
G Grid2 glutamate ionotropic receptor delta type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955405:3,291,793...4,411,249
Ensembl chrNW_004955405:3,344,763...4,443,836 		JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955436:14,264,470...14,377,581
Ensembl chrNW_004955436:14,264,387...14,644,622 		JBrowse link
G Kat2a lysine acetyltransferase 2A ISO protein:increased expression:retina (mouse) RGD PMID:15932940 RGD:9590239 NCBI chrNW_004955451:16,192,228...16,197,103
Ensembl chrNW_004955451:16,191,186...16,197,574 		JBrowse link
G Lrrk2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Spinocerebellar atrophy ClinVar PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 More... NCBI chrNW_004955505:84,324...216,923
Ensembl chrNW_004955505:81,796...216,923 		JBrowse link
G Mme membrane metalloendopeptidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955448:6,193,113...6,311,666
Ensembl chrNW_004955448:6,226,059...6,314,949 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955415:13,637,505...13,642,809
Ensembl chrNW_004955415:13,637,595...13,643,938 		JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chrNW_004955462:1,098,118...1,150,291
Ensembl chrNW_004955462:1,107,510...1,151,269 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Spinocerebellar atrophy ClinVar PMID:17436221 PMID:18546365 PMID:19010300 PMID:19364868 PMID:19762913 More... NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta ISO CTD Direct Evidence: marker/mechanism
DNA:repeat, SNPs, haplotype:multiple		 CTD
RGD		 PMID:18940801 PMID:20629122 RGD:5686297 NCBI chrNW_004955415:7,054,296...7,510,179
Ensembl chrNW_004955415:7,090,671...7,511,995 		JBrowse link
G Prkcg protein kinase C gamma ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds: (human)		 CTD
RGD		 PMID:12644968 PMID:20398063 RGD:737790 NCBI chrNW_004955604:262,182...279,259
Ensembl chrNW_004955604:262,071...279,259 		JBrowse link
G Rbm17 RNA binding motif protein 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18337722 NCBI chrNW_004955421:22,732,757...22,745,926
Ensembl chrNW_004955421:22,732,757...22,746,014 		JBrowse link
G Rubcn rubicon autophagy regulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955420:12,124,193...12,187,154
Ensembl chrNW_004955420:12,123,450...12,187,154 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955422:19,730,224...19,742,348
Ensembl chrNW_004955422:19,730,224...19,742,348 		JBrowse link
G Snx14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955411:12,967,980...13,048,839
Ensembl chrNW_004955411:12,969,114...13,048,836 		JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955422:18,659,489...18,699,338
Ensembl chrNW_004955422:18,659,489...18,699,338 		JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955442:16,521,130...16,523,733
Ensembl chrNW_004955442:16,521,130...16,523,468 		JBrowse link
G Syt14 synaptotagmin 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955489:2,017,884...2,275,834
Ensembl chrNW_004955489:2,017,884...2,276,301 		JBrowse link
G Tbp TATA-box binding protein onset ISO DNA:repeat:cds:g.172(CAG/CAA)47-55 (human) RGD PMID:11448935 PMID:21705419 RGD:5684014 RGD:5684015 NCBI chrNW_004955411:3,268,147...3,285,567
Ensembl chrNW_004955411:3,268,147...3,285,077 		JBrowse link
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955483:2,375,213...2,385,354
Ensembl chrNW_004955483:2,375,313...2,388,892 		JBrowse link
G Tgm6 transglutaminase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955415:13,470,268...13,499,500
Ensembl chrNW_004955415:13,470,701...13,499,422 		JBrowse link
G Trpc3 transient receptor potential cation channel subfamily C member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955428:18,628,951...18,678,525
Ensembl chrNW_004955428:18,628,890...18,678,906 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18037885 NCBI chrNW_004955416:9,412,297...9,518,561
Ensembl chrNW_004955416:9,412,297...9,559,655 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive ClinVar PMID:21689831 PMID:25741868 PMID:28492532 NCBI chrNW_004955485:9,193,838...9,198,697
Ensembl chrNW_004955485:9,191,919...9,198,697 		JBrowse link
G Uba5 ubiquitin like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955501:5,841,516...5,864,304
Ensembl chrNW_004955501:5,841,606...5,870,953 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Spinocerebellar atrophy ClinVar PMID:25741868 NCBI chrNW_004955486:1,515,630...1,772,107
Ensembl chrNW_004955486:1,513,712...1,767,956 		JBrowse link
G Vwa3b von Willebrand factor A domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955470:4,658,088...4,850,277
Ensembl chrNW_004955470:4,658,197...4,850,336 		JBrowse link
G Wwox WW domain containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955522:1,265,732...2,185,372
Ensembl chrNW_004955522:1,265,404...2,184,562 		JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955484:5,470,203...5,746,325
Ensembl chrNW_004955484:5,474,769...5,789,707 		JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chrNW_004955420:9,689,076...9,727,806
Ensembl chrNW_004955420:9,690,295...9,727,835 		JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V OMIM
ClinVar		 PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chrNW_004955420:9,974,466...9,978,789
Ensembl chrNW_004955420:9,953,045...9,978,789 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chrNW_004955420:9,903,736...9,966,100
Ensembl chrNW_004955420:9,903,736...9,966,100 		JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:8,723,828...8,747,684
Ensembl chrNW_004955412:8,723,828...8,748,701 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806 		JBrowse link
G Ada2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia ClinVar PMID:25741868 PMID:27884168 PMID:28492532 NCBI chrNW_004955454:5,341,822...5,355,383 JBrowse link
G Alg9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909 		JBrowse link
G Alkbh8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:9,875,905...9,923,728 JBrowse link
G Amotl1 angiomotin like 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955605:113,570...275,921
Ensembl chrNW_004955605:113,570...245,932 		JBrowse link
G Angptl5 angiopoietin like 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,236,268...5,254,866 JBrowse link
G Arhgap20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:12,433,350...12,515,922
Ensembl chrNW_004955412:12,430,064...12,515,925 		JBrowse link
G Arhgap42 Rho GTPase activating protein 42 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:4,367,369...4,601,653
Ensembl chrNW_004955412:4,367,369...4,594,888 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome		 ClinVar
OMIM		 PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 More... NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545 		JBrowse link
G Bak1 BCL2 antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chrNW_004955437:2,036,415...2,041,997
Ensembl chrNW_004955437:2,036,415...2,041,997 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244 		JBrowse link
G Bik BCL2 interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chrNW_004955413:28,277,727...28,294,032 JBrowse link
G Birc2 baculoviral IAP repeat containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,658,322...5,685,628
Ensembl chrNW_004955412:5,659,478...5,685,114 		JBrowse link
G Birc3 baculoviral IAP repeat containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,137,273...13,250,261
Ensembl chrNW_004955412:13,183,524...13,247,882 		JBrowse link
G Ccdc82 coiled-coil domain containing 82 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:1,178,695...1,208,883
Ensembl chrNW_004955412:1,174,945...1,205,326 		JBrowse link
G Cep126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,262,018...5,319,275
Ensembl chrNW_004955412:5,262,018...5,318,665 		JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:638,718...693,837 JBrowse link
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,368,983...5,399,406
Ensembl chrNW_004955412:5,368,495...5,400,305 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,605,526...13,609,865
Ensembl chrNW_004955412:13,605,819...13,612,070 		JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:3,105,095...4,122,484
Ensembl chrNW_004955412:3,436,462...4,123,202 		JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426 		JBrowse link
G Cul5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:10,266,072...10,336,156
Ensembl chrNW_004955412:10,256,381...10,336,156 		JBrowse link
G CUNH11orf52 chromosome unknown C11orf52 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,635,088...13,640,604
Ensembl chrNW_004955412:13,634,794...13,640,962 		JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome ClinVar PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 More... NCBI chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612 		JBrowse link
G CUNH11orf87 chromosome unknown C11orf87 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:11,447,935...11,455,153
Ensembl chrNW_004955412:11,448,134...11,455,153 		JBrowse link
G Cwc15 CWC15 spliceosome associated protein homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955605:32,721...42,981
Ensembl chrNW_004955605:32,721...46,182 		JBrowse link
G Cwf19l2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:9,758,751...9,861,019
Ensembl chrNW_004955412:9,766,910...9,861,027 		JBrowse link
G Dcun1d5 defective in cullin neddylation 1 domain containing 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:6,185,858...6,217,935
Ensembl chrNW_004955412:6,185,858...6,217,935 		JBrowse link
G Ddi1 DNA damage inducible 1 homolog 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:6,980,778...6,982,453
Ensembl chrNW_004955412:6,981,036...6,982,346 		JBrowse link
G Ddx10 DEAD-box helicase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:10,747,642...11,008,039
Ensembl chrNW_004955412:10,747,464...11,008,168 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,640,693...13,713,926
Ensembl chrNW_004955412:13,642,078...13,711,850 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:6,267,726...6,518,888
Ensembl chrNW_004955412:6,268,214...6,518,468 		JBrowse link
G Elmod1 ELMO domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:9,975,110...10,013,932
Ensembl chrNW_004955412:9,948,157...10,013,932 		JBrowse link
G Endod1 endonuclease domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:61,280...65,352 JBrowse link
G Exph5 exophilin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:10,604,853...10,674,683
Ensembl chrNW_004955412:10,604,772...10,674,749 		JBrowse link
G Fam76b family with sequence similarity 76 member B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:617,089...664,452
Ensembl chrNW_004955412:644,379...665,017 		JBrowse link
G Fdx1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:12,280,900...12,312,930
Ensembl chrNW_004955412:12,286,408...12,316,707 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,601,032...13,605,418
Ensembl chrNW_004955412:13,598,231...13,605,395 		JBrowse link
G Fut4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955605:397,721...398,470 JBrowse link
G Gria4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:8,306,187...8,644,156
Ensembl chrNW_004955412:8,307,091...8,644,598 		JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206 		JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 RGD:9681455 NCBI chrNW_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210 		JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,254,671...13,275,832
Ensembl chrNW_004955412:13,258,703...13,275,876 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,628,098...13,631,575
Ensembl chrNW_004955412:13,628,098...13,631,727 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265 		JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Jrkl JRK like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:1,209,524...1,212,911
Ensembl chrNW_004955412:1,209,788...1,211,362 		JBrowse link
G Kbtbd3 kelch repeat and BTB domain containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:8,703,075...8,723,628
Ensembl chrNW_004955412:8,703,075...8,713,929 		JBrowse link
G Kdm4d lysine demethylase 4D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955605:7,585...32,650
Ensembl chrNW_004955605:8,977...10,539 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,282,871...13,298,214
Ensembl chrNW_004955412:13,280,327...13,297,833 		JBrowse link
G Maml2 mastermind like transcriptional coactivator 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:849,367...1,038,341
Ensembl chrNW_004955412:847,977...952,259 		JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,965,388...5,976,353
Ensembl chrNW_004955412:5,965,394...5,976,382 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:6,045,146...6,057,112
Ensembl chrNW_004955412:6,045,100...6,057,262 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:6,106,994...6,118,760
Ensembl chrNW_004955412:6,106,994...6,118,760 		JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,815,450...5,869,016
Ensembl chrNW_004955412:5,815,450...5,869,016 		JBrowse link
G Mmp27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,912,877...5,922,463
Ensembl chrNW_004955412:5,912,877...5,922,463 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,780,772...5,792,485
Ensembl chrNW_004955412:5,778,502...5,792,445 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,928,997...5,939,012
Ensembl chrNW_004955412:5,928,997...5,939,012 		JBrowse link
G Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:8,654,182...8,666,254
Ensembl chrNW_004955412:8,652,193...8,666,347 		JBrowse link
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:693,743...764,377
Ensembl chrNW_004955412:693,743...750,154 		JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,755,704...13,765,047
Ensembl chrNW_004955412:13,755,817...13,765,047 		JBrowse link
G Npat nuclear protein, ataxia-telangiectasia locus ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chrNW_004955412:10,377,814...10,422,753
Ensembl chrNW_004955412:10,379,132...10,422,497 		JBrowse link
G Pdgfd platelet derived growth factor D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:6,868,995...7,093,353
Ensembl chrNW_004955412:6,866,869...7,093,998 		JBrowse link
G Pgr progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:4,643,839...4,693,478 JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,748,120...13,755,498
Ensembl chrNW_004955412:13,748,325...13,754,130 		JBrowse link
G Piwil4 piwi like RNA-mediated gene silencing 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955605:331,633...398,528 JBrowse link
G Poglut3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:10,582,169...10,598,153
Ensembl chrNW_004955412:10,579,511...10,598,153 		JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,131,229...13,167,150
Ensembl chrNW_004955412:13,131,168...13,156,128 		JBrowse link
G Pou2af2 POU class 2 homeobox associating factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,076,854...13,079,095 JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,090,206...13,098,642
Ensembl chrNW_004955412:13,090,206...13,098,826 		JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,458,078...13,494,583
Ensembl chrNW_004955412:13,458,136...13,494,585 		JBrowse link
G Rab39a RAB39A, member RAS oncogene family ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:10,224,074...10,240,270
Ensembl chrNW_004955412:10,224,074...10,240,270 		JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:12,100,436...12,184,444
Ensembl chrNW_004955412:12,100,359...12,172,545 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,768,501...13,778,944
Ensembl chrNW_004955412:13,768,501...13,778,932 		JBrowse link
G Sesn3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:100,335...125,395
Ensembl chrNW_004955412:107,861...125,944 		JBrowse link
G Sik2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,342,032...13,458,076
Ensembl chrNW_004955412:13,342,032...13,457,563 		JBrowse link
G Slc35f2 solute carrier family 35 member F2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:10,111,134...10,156,575
Ensembl chrNW_004955412:10,110,692...10,156,575 		JBrowse link
G Sln sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:10,057,481...10,062,178 JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:13,766,532...13,768,453
Ensembl chrNW_004955412:13,766,532...13,768,453 		JBrowse link
G Tmem123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,690,988...5,741,109 JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:5,423,866...5,533,728
Ensembl chrNW_004955412:5,423,855...5,534,408 		JBrowse link
G Zc3h12c zinc finger CCCH-type containing 12C ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chrNW_004955412:12,015,252...12,086,331
Ensembl chrNW_004955412:12,020,201...12,086,331 		JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673 		JBrowse link
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin susceptibility ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)		 OMIM
ClinVar
RGD		 PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:1599207 NCBI chrNW_004955472:2,645,716...2,664,394
Ensembl chrNW_004955472:2,652,869...2,664,272 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:16199547 PMID:20118933 PMID:24033266 PMID:25728773 PMID:25741868 More... NCBI chrNW_004955559:1,064,924...1,070,120 JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021 		JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 OMIM
ClinVar		 PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chrNW_004955467:8,025,231...8,091,406
Ensembl chrNW_004955467:8,065,857...8,091,486 		JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 More... NCBI chrNW_004955497:3,701,515...3,752,627
Ensembl chrNW_004955497:3,706,882...3,754,663 		JBrowse link
ataxia-oculomotor apraxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chrNW_004955559:1,064,924...1,070,120 JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545 		JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612 		JBrowse link
ataxia-telangiectasia-like disorder-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar		 PMID:24911150 PMID:25741868 NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673 		JBrowse link
autosomal dominant cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955402:1,037,414...1,069,165
Ensembl chrNW_004955402:1,037,402...1,069,165 		JBrowse link
G Dagla diacylglycerol lipase alpha ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955511:5,952,134...5,997,280
Ensembl chrNW_004955511:5,952,087...5,974,172 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:24136616 More... NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:35401678 NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 PMID:26489027 PMID:28492532 NCBI chrNW_004955403:22,502,625...22,618,513
Ensembl chrNW_004955403:22,502,625...22,619,211 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chrNW_004955404:8,704,344...9,329,917
Ensembl chrNW_004955404:8,705,112...9,325,117 		JBrowse link
G Kif26b kinesin family member 26B ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:29053796 NCBI chrNW_004955406:8,289,774...8,738,131
Ensembl chrNW_004955406:8,290,046...8,731,226 		JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:23902687 PMID:25741868 NCBI chrNW_004955402:2,980,539...3,076,283
Ensembl chrNW_004955402:2,979,547...3,076,283 		JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081 		JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chrNW_004955415:13,106,087...13,119,497
Ensembl chrNW_004955415:13,106,062...13,119,515 		JBrowse link
G Prkcg protein kinase C gamma ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chrNW_004955604:262,182...279,259
Ensembl chrNW_004955604:262,071...279,259 		JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:17940722 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955422:18,659,489...18,699,338
Ensembl chrNW_004955422:18,659,489...18,699,338 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chrNW_004955415:13,470,268...13,499,500
Ensembl chrNW_004955415:13,470,701...13,499,422 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia ClinVar NCBI chrNW_004955416:9,412,297...9,518,561
Ensembl chrNW_004955416:9,412,297...9,559,655 		JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy OMIM
ClinVar		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462 		JBrowse link
autosomal recessive cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 More... NCBI chrNW_004955420:27,572,561...27,682,099
Ensembl chrNW_004955420:27,572,561...27,696,269 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29482223 NCBI chrNW_004955406:10,180,415...10,217,450
Ensembl chrNW_004955406:10,180,415...10,217,505 		JBrowse link
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:35792670 NCBI chrNW_004955431:23,640,775...23,651,738
Ensembl chrNW_004955431:23,638,765...23,652,191 		JBrowse link
G Septin11 septin 11 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 PMID:31673878 NCBI chrNW_004955433:1,606,246...1,691,819
Ensembl chrNW_004955433:1,606,261...1,691,812 		JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:26467025 PMID:28492532 NCBI chrNW_004955422:18,659,489...18,699,338
Ensembl chrNW_004955422:18,659,489...18,699,338 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:16199547 PMID:17159980 PMID:19542096 PMID:24033266 PMID:24319099 More... NCBI chrNW_004955439:9,131,227...9,574,112 JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chrNW_004955438:12,421,790...12,510,243
Ensembl chrNW_004955438:12,421,005...12,511,493 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17614277 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 More... NCBI chrNW_004955485:9,193,838...9,198,697
Ensembl chrNW_004955485:9,191,919...9,198,697 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955486:1,515,630...1,772,107
Ensembl chrNW_004955486:1,513,712...1,767,956 		JBrowse link
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 OMIM
ClinVar		 PMID:16199547 PMID:21092923 PMID:24033266 PMID:25089919 PMID:25133958 More... NCBI chrNW_004955420:27,572,561...27,682,099
Ensembl chrNW_004955420:27,572,561...27,696,269 		JBrowse link
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syt14 synaptotagmin 14 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11 OMIM
ClinVar		 PMID:21835308 PMID:25741868 PMID:26467025 NCBI chrNW_004955489:2,017,884...2,275,834
Ensembl chrNW_004955489:2,017,884...2,276,301 		JBrowse link
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 ClinVar PMID:24369382 PMID:25741868 PMID:26467025 PMID:27854218 PMID:27959697 More... NCBI chrNW_004955522:2,514,313...2,519,694 JBrowse link
G Wwox WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY OMIM
ClinVar		 PMID:9536098 PMID:11572989 PMID:16199547 PMID:17470496 PMID:17576681 More... NCBI chrNW_004955522:1,265,732...2,185,372
Ensembl chrNW_004955522:1,265,404...2,184,562 		JBrowse link
autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 | ClinVar Annotator: match by term: GRM1-related condition OMIM
ClinVar		 PMID:19146831 PMID:19924463 PMID:22448230 PMID:22558107 PMID:25741868 More... NCBI chrNW_004955436:14,264,470...14,377,581
Ensembl chrNW_004955436:14,264,387...14,644,622 		JBrowse link
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcg protein kinase C gamma ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 ClinVar PMID:25741868 NCBI chrNW_004955604:262,182...279,259
Ensembl chrNW_004955604:262,071...279,259 		JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 | ClinVar Annotator: match by term: SPTBN2-related condition OMIM
ClinVar		 PMID:17940722 PMID:23236289 PMID:23838597 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955422:18,659,489...18,699,338
Ensembl chrNW_004955422:18,659,489...18,699,338 		JBrowse link
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rubcn rubicon autophagy regulator ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 OMIM
ClinVar		 PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 More... NCBI chrNW_004955420:12,124,193...12,187,154
Ensembl chrNW_004955420:12,123,450...12,187,154 		JBrowse link
autosomal recessive spinocerebellar ataxia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:24113144 PMID:24719489 PMID:24742043 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955442:16,519,394...16,521,106
Ensembl chrNW_004955442:16,519,397...16,521,106 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:25741868 NCBI chrNW_004955442:16,525,009...16,528,780
Ensembl chrNW_004955442:16,525,009...16,528,780 		JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 OMIM
ClinVar		 PMID:24113144 PMID:24312598 PMID:24719489 PMID:24742043 PMID:25258038 More... NCBI chrNW_004955442:16,521,130...16,523,733
Ensembl chrNW_004955442:16,521,130...16,523,468 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:25741868 NCBI chrNW_004955442:16,513,074...16,519,296
Ensembl chrNW_004955442:16,513,448...16,519,296 		JBrowse link
autosomal recessive spinocerebellar ataxia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cwf19l1 CWF19 like cell cycle control factor 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 OMIM
ClinVar		 PMID:15981765 PMID:16199547 PMID:18414213 PMID:25361784 PMID:25741868 More... NCBI chrNW_004955507:6,106,245...6,136,305
Ensembl chrNW_004955507:6,105,179...6,136,313 		JBrowse link
autosomal recessive spinocerebellar ataxia 18 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: Autosomal recessive spinocerebellar ataxia 18 OMIM
ClinVar		 PMID:23611888 PMID:24078737 PMID:25741868 PMID:27980096 PMID:28492532 NCBI chrNW_004955405:3,291,793...4,411,249
Ensembl chrNW_004955405:3,344,763...4,443,836 		JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome OMIM
ClinVar		 PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422 NCBI chrNW_004955452:6,409,833...6,467,841
Ensembl chrNW_004955452:6,409,833...6,467,841 		JBrowse link
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 | ClinVar Annotator: match by term: CPD III OMIM
ClinVar		 PMID:9536098 PMID:10528257 PMID:17576681 PMID:25741868 PMID:25808372 More... NCBI chrNW_004955513:4,315,159...4,322,609
Ensembl chrNW_004955513:4,315,159...4,322,609 		JBrowse link
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx14 sorting nexin 14 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 | ClinVar Annotator: match by term: SNX14-related condition OMIM
ClinVar		 PMID:24501761 PMID:25439728 PMID:25741868 PMID:25848753 PMID:27913285 More... NCBI chrNW_004955411:12,967,980...13,048,839
Ensembl chrNW_004955411:12,969,114...13,048,836 		JBrowse link
autosomal recessive spinocerebellar ataxia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome | ClinVar Annotator: match by term: SCYL1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29419818 PMID:32146038 PMID:32860008 NCBI chrNW_004955422:19,730,224...19,742,348
Ensembl chrNW_004955422:19,730,224...19,742,348 		JBrowse link
autosomal recessive spinocerebellar ataxia 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vwa3b von Willebrand factor A domain containing 3B ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 OMIM
ClinVar		 PMID:25741868 PMID:26157035 NCBI chrNW_004955470:4,658,088...4,850,277
Ensembl chrNW_004955470:4,658,197...4,850,336 		JBrowse link
autosomal recessive spinocerebellar ataxia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 23 OMIM
ClinVar		 PMID:24658003 PMID:25741868 PMID:30109272 NCBI chrNW_004955483:2,375,213...2,385,354
Ensembl chrNW_004955483:2,375,313...2,388,892 		JBrowse link
autosomal recessive spinocerebellar ataxia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26872069 PMID:27545674 PMID:27545681 More... NCBI chrNW_004955501:5,841,516...5,864,304
Ensembl chrNW_004955501:5,841,606...5,870,953 		JBrowse link
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg5 autophagy related 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 OMIM
ClinVar		 PMID:15981765 PMID:26812546 NCBI chrNW_004955411:31,501,191...31,646,407
Ensembl chrNW_004955411:31,522,420...31,646,827 		JBrowse link
autosomal recessive spinocerebellar ataxia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc1 X-ray repair cross complementing 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26 OMIM
ClinVar		 PMID:16875718 PMID:19362955 PMID:20530282 PMID:21057378 PMID:22026922 More... NCBI chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839 		JBrowse link
autosomal recessive spinocerebellar ataxia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap2 ganglioside induced differentiation associated protein 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27 OMIM
ClinVar		 PMID:25741868 PMID:30084953 NCBI chrNW_004955435:20,980,551...21,037,964
Ensembl chrNW_004955435:20,980,551...21,037,964 		JBrowse link
autosomal recessive spinocerebellar ataxia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thg1l tRNA-histidine guanylyltransferase 1 like ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28 OMIM
ClinVar		 PMID:1168944 PMID:25741868 PMID:27307223 PMID:28097321 NCBI chrNW_004955408:11,857,380...11,863,786
Ensembl chrNW_004955408:11,857,380...11,866,270 		JBrowse link
autosomal recessive spinocerebellar ataxia 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps41 VPS41 subunit of HOPS complex ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 OMIM
ClinVar		 PMID:25741868 PMID:32808683 PMID:33764426 PMID:33851776 NCBI chrNW_004955460:4,555,870...4,749,154
Ensembl chrNW_004955460:4,555,870...4,749,153 		JBrowse link
autosomal recessive spinocerebellar ataxia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 OMIM
ClinVar		 PMID:26697887 PMID:28492532 PMID:29383861 PMID:29764912 NCBI chrNW_004955421:28,010,756...28,041,336
Ensembl chrNW_004955421:28,008,733...28,042,116 		JBrowse link
autosomal recessive spinocerebellar ataxia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg7 autophagy related 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 OMIM
ClinVar		 PMID:25741868 PMID:34161705 PMID:35405176 NCBI chrNW_004955429:14,076,976...14,301,034
Ensembl chrNW_004955429:14,076,960...14,304,236 		JBrowse link
autosomal recessive spinocerebellar ataxia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 OMIM
ClinVar		 PMID:25741868 PMID:33889951 PMID:35766882 PMID:35792670 NCBI chrNW_004955431:23,640,775...23,651,738
Ensembl chrNW_004955431:23,638,765...23,652,191 		JBrowse link
autosomal recessive spinocerebellar ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | ClinVar Annotator: match by term: VPS13D-related condition OMIM
ClinVar		 PMID:9536098 PMID:11960835 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955486:1,515,630...1,772,107
Ensembl chrNW_004955486:1,513,712...1,767,956 		JBrowse link
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 | ClinVar Annotator: match by term: TPP1-related condition OMIM
ClinVar		 PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10862088 More... NCBI chrNW_004955414:22,324,847...22,330,912
Ensembl chrNW_004955414:22,324,856...22,330,912 		JBrowse link
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868 PMID:26467025 PMID:27782104 PMID:28492532 NCBI chrNW_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353 		JBrowse link
G Fbxo5 F-box protein 5 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chrNW_004955439:8,830,658...8,843,653
Ensembl chrNW_004955439:8,830,975...8,843,828 		JBrowse link
G Mtrf1l mitochondrial translation release factor 1 like ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chrNW_004955439:8,809,545...8,824,442
Ensembl chrNW_004955439:8,809,617...8,823,762 		JBrowse link
G Myct1 MYC target 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chrNW_004955439:9,065,983...9,086,491
Ensembl chrNW_004955439:9,065,574...9,086,539 		JBrowse link
G Rgs17 regulator of G protein signaling 17 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chrNW_004955439:8,687,775...8,805,229
Ensembl chrNW_004955439:8,687,672...8,802,260 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chrNW_004955439:9,131,227...9,574,112 JBrowse link
G Vip vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type ClinVar PMID:28492532 NCBI chrNW_004955439:9,021,923...9,031,783
Ensembl chrNW_004955439:9,021,904...9,031,792 		JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955563:1,703,408...1,712,908
Ensembl chrNW_004955563:1,703,416...1,745,996 		JBrowse link
G Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism OMIM
ClinVar		 PMID:3963113 PMID:8053762 PMID:9321767 PMID:18313024 PMID:20603202 More... NCBI chrNW_004955563:1,681,112...1,703,287
Ensembl chrNW_004955563:1,680,818...1,703,287 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004955418:538,883...548,605 JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss OMIM
ClinVar		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More... NCBI chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542 		JBrowse link
Cayman type cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atcay ATCAY kinesin light chain interacting caytaxin ISO ClinVar Annotator: match by term: Cayman type cerebellar ataxia OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29449188 NCBI chrNW_004955495:5,715,943...5,741,202
Ensembl chrNW_004955495:5,715,850...5,741,202 		JBrowse link
cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahnak2 AHNAK nucleoprotein 2 ISO ClinVar Annotator: match by term: Dysmetria ClinVar NCBI chrNW_004955538:3,305,664...3,315,094 JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin susceptibility ISO RGD PMID:14556008 RGD:1599348 NCBI chrNW_004955495:5,715,943...5,741,202
Ensembl chrNW_004955495:5,715,850...5,741,202 		JBrowse link
G Atg4d autophagy related 4D cysteine peptidase ISO Neurodegenerative vacuolar storage disease OMIA PMID:25875846 PMID:28583040 PMID:33016245 PMID:37341581 NCBI chrNW_004955495:1,739,982...1,746,362
Ensembl chrNW_004955495:1,739,982...1,746,362 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:12810666 PMID:23807571 PMID:25614872 PMID:25741868 More... NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO Ataxia, cerebellar, ATP1B2-related OMIA PMID:28620085 PMID:37341581 NCBI chrNW_004955467:9,261,775...9,268,743
Ensembl chrNW_004955467:9,261,775...9,268,743 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:10371528 PMID:15173248 PMID:19486177 PMID:25735478 PMID:25741868 More... NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955451:11,136,885...11,194,321
Ensembl chrNW_004955451:11,137,214...11,194,036 		JBrowse link
G Caprin1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:36136249 NCBI chrNW_004955422:12,126,893...12,170,877 JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chrNW_004955486:7,849,921...7,877,598
Ensembl chrNW_004955486:7,853,641...7,876,047 		JBrowse link
G Cers1 ceramide synthase 1 treatment ISO RGD PMID:21625621 RGD:156431058 NCBI chrNW_004955524:2,788,672...2,798,068
Ensembl chrNW_004955524:2,788,653...2,796,370 		JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:28554332 PMID:34386584 NCBI chrNW_004955570:716,124...732,551
Ensembl chrNW_004955570:707,637...732,980 		JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955420:23,138,558...23,152,462
Ensembl chrNW_004955420:23,138,605...23,152,311 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chrNW_004955406:10,180,415...10,217,450
Ensembl chrNW_004955406:10,180,415...10,217,505 		JBrowse link
G Csmd1 CUB and Sushi multiple domains 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:35351988 NCBI chrNW_004955403:55,809,895...57,101,986
Ensembl chrNW_004955403:55,851,519...57,099,067 		JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9887333 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chrNW_004955406:13,964,087...13,991,691
Ensembl chrNW_004955406:13,964,087...13,991,691 		JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:28554332 PMID:34386584 NCBI chrNW_004955570:752,335...781,770
Ensembl chrNW_004955570:752,335...781,770 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025 		JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chrNW_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353 		JBrowse link
G Gjb1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9361298 PMID:9818870 PMID:11438991 PMID:11571214 PMID:15468313 More... NCBI chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910 		JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:36675067 NCBI chrNW_004955436:14,264,470...14,377,581
Ensembl chrNW_004955436:14,264,387...14,644,622 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chrNW_004955418:19,346...30,514
Ensembl chrNW_004955418:19,346...30,514 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955413:2,614,685...2,676,292
Ensembl chrNW_004955413:2,614,685...2,676,292 		JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19289823 PMID:19420365 PMID:20651251 PMID:20807765 PMID:32581362 NCBI chrNW_004955468:11,828,525...11,860,365
Ensembl chrNW_004955468:11,828,525...11,860,365 		JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33242881 PMID:36746441 NCBI chrNW_004955408:34,223,523...34,366,191
Ensembl chrNW_004955408:34,109,334...34,368,114 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:32581362 NCBI chrNW_004955467:10,399,768...10,423,249
Ensembl chrNW_004955467:10,399,768...10,422,712 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 PMID:29286531 NCBI chrNW_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chrNW_004955409:12,485,003...12,531,759
Ensembl chrNW_004955409:12,485,003...12,535,098 		JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:35351988 NCBI chrNW_004955490:569,526...678,626
Ensembl chrNW_004955490:571,679...676,059 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15064763 PMID:16043786 PMID:16835246 PMID:17296794 PMID:17959936 More... NCBI chrNW_004955486:1,937,873...1,962,577
Ensembl chrNW_004955486:1,937,802...1,962,772 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334 PMID:21160490 PMID:23079554 PMID:23851226 PMID:25741868 More... NCBI chrNW_004955413:33,120,426...33,142,149
Ensembl chrNW_004955413:33,119,218...33,142,149 		JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30548255 NCBI chrNW_004955402:2,980,539...3,076,283
Ensembl chrNW_004955402:2,979,547...3,076,283 		JBrowse link
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:33711248 NCBI chrNW_004955452:13,650,016...13,659,382
Ensembl chrNW_004955452:13,649,539...13,659,436 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955415:13,637,505...13,642,809
Ensembl chrNW_004955415:13,637,595...13,643,938 		JBrowse link
G Pde1b phosphodiesterase 1B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955458:1,791,090...1,819,261
Ensembl chrNW_004955458:1,791,090...1,821,813 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chrNW_004955437:8,945,842...8,964,870
Ensembl chrNW_004955437:8,947,002...8,960,371 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chrNW_004955442:9,390,789...9,411,722
Ensembl chrNW_004955442:9,389,443...9,411,719 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chrNW_004955513:4,315,159...4,322,609
Ensembl chrNW_004955513:4,315,159...4,322,609 		JBrowse link
G Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 More... NCBI chrNW_004955563:1,681,112...1,703,287
Ensembl chrNW_004955563:1,680,818...1,703,287 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: RGD PMID:20803511 RGD:8694192 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Pomt1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28182637 PMID:28492532 NCBI chrNW_004955513:1,189,169...1,203,933
Ensembl chrNW_004955513:1,189,169...1,203,933 		JBrowse link
G Prkcg protein kinase C gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chrNW_004955604:262,182...279,259
Ensembl chrNW_004955604:262,071...279,259 		JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 PMID:25741914 PMID:27129381 PMID:28328138 NCBI chrNW_004955451:3,370,761...3,375,979
Ensembl chrNW_004955451:3,370,761...3,375,979 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO Ataxia, cerebellar, juvenile to adolescent, RAB24-related OMIA PMID:3973637 PMID:6502189 PMID:7341602 PMID:7440348 PMID:11043686 More... NCBI chrNW_004955408:29,548,839...29,551,184
Ensembl chrNW_004955408:29,548,839...29,551,184 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chrNW_004955443:7,969,117...8,051,734
Ensembl chrNW_004955443:7,983,840...8,051,089 		JBrowse link
G Rpgrip1l RPGRIP1 like ISO associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569 		JBrowse link
G Rpl27a ribosomal protein L27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chrNW_004955414:24,461,997...24,464,828 JBrowse link
G Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955403:1,663,676...1,811,088
Ensembl chrNW_004955403:1,663,676...1,811,109 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971 		JBrowse link
G Sel1l SEL1L adaptor subunit of SYVN1 ubiquitin ligase ISO Ataxia, cerebellar, progressive early-onset, SEL1L-related OMIA PMID:22719266 PMID:37341581 NCBI chrNW_004955438:5,030,915...5,082,015
Ensembl chrNW_004955438:5,030,915...5,082,118 		JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chrNW_004955443:19,759,772...19,859,188
Ensembl chrNW_004955443:19,822,811...19,863,495 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:26467025 NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511 		JBrowse link
G Snx14 sorting nexin 14 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chrNW_004955411:12,967,980...13,048,839
Ensembl chrNW_004955411:12,969,114...13,048,836 		JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 PMID:25741868 NCBI chrNW_004955431:9,758,159...9,786,468
Ensembl chrNW_004955431:9,758,053...9,786,644 		JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955422:18,659,489...18,699,338
Ensembl chrNW_004955422:18,659,489...18,699,338 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:20887364 PMID:24033266 PMID:25533962 PMID:25741868 PMID:26384463 More... NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759 		JBrowse link
G Surf1 surfeit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9536098 PMID:17576681 PMID:22488715 PMID:23829769 PMID:25741868 More... NCBI chrNW_004955513:2,707,877...2,711,606
Ensembl chrNW_004955513:2,707,951...2,711,566 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955439:9,131,227...9,574,112 JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955437:1,950,559...1,981,004
Ensembl chrNW_004955437:1,950,602...1,979,251 		JBrowse link
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chrNW_004955483:2,375,213...2,385,354
Ensembl chrNW_004955483:2,375,313...2,388,892 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955472:568,939...603,676
Ensembl chrNW_004955472:568,939...603,676 		JBrowse link
G Unc13a unc-13 homolog A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 PMID:28192369 NCBI chrNW_004955524:725,353...769,745 JBrowse link
G Vps39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955416:8,893,249...8,936,351
Ensembl chrNW_004955416:8,893,249...8,936,351 		JBrowse link
G Znf236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chrNW_004955402:60,185,687...60,315,589
Ensembl chrNW_004955402:60,185,646...60,315,584 		JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
cerebellar ataxia type 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpc3 transient receptor potential cation channel subfamily C member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 OMIM
ClinVar		 PMID:25477146 PMID:25741868 PMID:28492532 NCBI chrNW_004955428:18,628,951...18,678,525
Ensembl chrNW_004955428:18,628,890...18,678,906 		JBrowse link
cerebellar ataxia type 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 42 OMIM
ClinVar		 PMID:25741868 PMID:26456284 PMID:26715324 PMID:28490766 PMID:28492532 More... NCBI chrNW_004955451:11,136,885...11,194,321
Ensembl chrNW_004955451:11,137,214...11,194,036 		JBrowse link
cerebellar ataxia type 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mme membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 43 OMIM
ClinVar		 PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 More... NCBI chrNW_004955448:6,193,113...6,311,666
Ensembl chrNW_004955448:6,226,059...6,314,949 		JBrowse link
cerebellar ataxia type 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pum1 pumilio RNA binding family member 1 ISO ClinVar Annotator: match by term: PUM1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 47 OMIM
ClinVar		 PMID:25741868 PMID:29474920 PMID:30903679 PMID:31859446 PMID:35386260 NCBI chrNW_004955452:9,487,725...9,623,565
Ensembl chrNW_004955452:9,487,725...9,624,066 		JBrowse link
cerebellar ataxia type 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:24719489 PMID:25741868 PMID:28492532 PMID:30381368 PMID:31126790 More... NCBI chrNW_004955442:16,519,394...16,521,106
Ensembl chrNW_004955442:16,519,397...16,521,106 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:25741868 NCBI chrNW_004955442:16,525,009...16,528,780
Ensembl chrNW_004955442:16,525,009...16,528,780 		JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 OMIM
ClinVar		 PMID:24719489 PMID:25258038 PMID:25741868 PMID:28492532 PMID:30381368 More... NCBI chrNW_004955442:16,521,130...16,523,733
Ensembl chrNW_004955442:16,521,130...16,523,468 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 48 ClinVar PMID:25741868 NCBI chrNW_004955442:16,513,074...16,519,296
Ensembl chrNW_004955442:16,513,448...16,519,296 		JBrowse link
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects OMIM
ClinVar		 PMID:25741868 PMID:29302074 PMID:30950035 PMID:32504085 PMID:34089229 NCBI chrNW_004955555:328,130...334,106
Ensembl chrNW_004955555:326,698...334,106 		JBrowse link
cerebellar ataxia, mental retardation and dysequlibrium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca8 carbonic anhydrase 8 ISO OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chrNW_004955444:18,414,006...18,510,800
Ensembl chrNW_004955444:18,413,958...18,512,213 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: Dysequilibrium syndrome ClinVar PMID:11913577 PMID:16080122 PMID:16199547 PMID:18043714 PMID:18326629 More... NCBI chrNW_004955434:7,013,092...7,050,103
Ensembl chrNW_004955434:7,013,092...7,050,103 		JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM
ClinVar		 PMID:11913577 PMID:16080122 PMID:16199547 PMID:18043714 PMID:18326629 More... NCBI chrNW_004955434:7,013,092...7,050,103
Ensembl chrNW_004955434:7,013,092...7,050,103 		JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 OMIM
ClinVar		 PMID:16371500 PMID:21885617 PMID:25558065 PMID:25741868 PMID:25741909 More... NCBI chrNW_004955481:1,450,127...1,462,564
Ensembl chrNW_004955481:1,449,350...1,462,555 		JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 OMIM
ClinVar		 PMID:19461874 PMID:21937992 PMID:25741868 NCBI chrNW_004955444:18,414,006...18,510,800
Ensembl chrNW_004955444:18,413,958...18,512,213 		JBrowse link
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elf2 E74 like ETS transcription factor 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar PMID:29628936 NCBI chrNW_004955428:4,458,962...4,550,783
Ensembl chrNW_004955428:4,479,913...4,550,783 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM
ClinVar		 PMID:25741868 PMID:35883251 PMID:36478048 NCBI chrNW_004955443:7,969,117...8,051,734
Ensembl chrNW_004955443:7,983,840...8,051,089 		JBrowse link
cerebellofaciodental syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brf1 BRF1 RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome OMIM
ClinVar		 PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 NCBI chrNW_004955538:3,469,322...3,544,704
Ensembl chrNW_004955538:3,470,249...3,544,704 		JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfy1 ankyrin repeat and FYVE domain containing 1 ISO OMIM:270550 MouseDO NCBI chrNW_004955467:12,644,070...12,734,546
Ensembl chrNW_004955467:12,644,098...12,730,711 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition OMIM
ClinVar		 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 More... NCBI chrNW_004955497:3,701,515...3,752,627
Ensembl chrNW_004955497:3,706,882...3,754,663 		JBrowse link
G Sgcg sarcoglycan gamma ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955497:3,592,041...3,702,780
Ensembl chrNW_004955497:3,615,003...3,701,300 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE ClinVar PMID:25326637 PMID:28492532 NCBI chrNW_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017 		JBrowse link
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus OMIM
ClinVar		 PMID:25466870 PMID:25741868 PMID:28940199 PMID:32738013 PMID:33486469 NCBI chrNW_004955404:14,361,540...14,412,533
Ensembl chrNW_004955404:14,360,832...14,412,533 		JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 NCBI chrNW_004955423:25,269,459...25,382,664
Ensembl chrNW_004955423:25,269,466...25,377,641 		JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:25741868 NCBI chrNW_004955454:2,134,340...2,136,962
Ensembl chrNW_004955454:2,135,484...2,136,560 		JBrowse link
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia OMIM
ClinVar		 PMID:25388005 PMID:25741868 PMID:28492532 NCBI chrNW_004955429:19,981,599...20,552,700 JBrowse link
dentatorubral-pallidoluysian atrophy 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: Dentatorubral-pallidoluysian atrophy OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004955413:4,511,251...4,524,037
Ensembl chrNW_004955413:4,516,532...4,522,831 		JBrowse link
episodic ataxia type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Episodic ataxia type 5 ClinVar
OMIM		 PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chrNW_004955440:17,364,996...17,497,446
Ensembl chrNW_004955440:17,371,321...17,497,616 		JBrowse link
episodic ataxia type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 6 OMIM
ClinVar		 PMID:16116111 PMID:19139306 PMID:23107647 PMID:24214974 PMID:25497598 More... NCBI chrNW_004955426:21,371,985...21,450,749
Ensembl chrNW_004955426:21,371,985...21,451,069 		JBrowse link
familial hemiplegic migraine 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine OMIM
ClinVar		 PMID:7537420 PMID:8734765 PMID:8898206 PMID:9329229 PMID:9488686 More... NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 ClinVar PMID:25741868 NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963 		JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1 angiotensin II receptor type 1 ISO DNA:SNP: :rs5186(human) RGD PMID:21771600 RGD:401717567 NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255 		JBrowse link
G Fxn frataxin onset
treatment		 ISO ClinVar Annotator: match by term: Friedreich ataxia
DNA:repeat,deletion:intron,exon:GAA(human)		 ClinVar
RGD		 PMID:8596916 PMID:9090376 PMID:9150176 PMID:9700204 PMID:9737785 More... RGD:401793707 RGD:401793708 RGD:401793711 RGD:401793713 NCBI chrNW_004955434:3,983,225...4,008,324
Ensembl chrNW_004955434:3,980,653...4,008,761 		JBrowse link
Friedreich ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO ClinVar Annotator: match by term: Friedreich ataxia 1 OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:34906502 NCBI chrNW_004955434:3,983,225...4,008,324
Ensembl chrNW_004955434:3,980,653...4,008,761 		JBrowse link
Gillespie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Gillespie syndrome ClinVar PMID:25741868 PMID:26899008 NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		JBrowse link
Gordon Holmes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf216 ring finger protein 216 ISO ClinVar Annotator: match by term: Cerebellar ataxia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome OMIM
ClinVar		 PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 More... NCBI chrNW_004955460:10,423,736...10,578,421
Ensembl chrNW_004955460:10,425,885...10,551,295 		JBrowse link
hypomyelinating leukodystrophy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18851904 PMID:22036171 More... NCBI chrNW_004955405:40,353,289...40,451,445
Ensembl chrNW_004955405:40,353,281...40,451,479 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ClinVar PMID:24033266 PMID:25326637 PMID:25741868 PMID:25944730 PMID:28492532 NCBI chrNW_004955445:10,708,147...10,722,109
Ensembl chrNW_004955445:10,709,681...10,722,264 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica OMIM
ClinVar		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chrNW_004955431:1,928,706...1,935,010
Ensembl chrNW_004955431:1,928,706...1,937,238 		JBrowse link
Machado-Joseph disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn3 ataxin 3 treatment
susceptibility		 ISO ClinVar Annotator: match by term: Azorean disease RGD
OMIM
ClinVar		 PMID:20308049 PMID:25741868 RGD:11557997 NCBI chrNW_004955438:14,405,415...14,443,457
Ensembl chrNW_004955438:14,405,643...14,440,009 		JBrowse link
G Becn1 beclin 1 ISO protein:decreased expression:fibroblast
protein:decreased expression:brain		 RGD PMID:21478185 RGD:6483072 NCBI chrNW_004955451:16,616,595...16,625,731
Ensembl chrNW_004955451:16,616,595...16,625,730 		JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:21743141 RGD:5508762 NCBI chrNW_004955407:42,972,584...42,980,510
Ensembl chrNW_004955407:42,972,584...42,980,510 		JBrowse link
G Slc18a2 solute carrier family 18 member A2 ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chrNW_004955431:21,949,553...21,979,679
Ensembl chrNW_004955431:21,949,576...21,979,679 		JBrowse link
G Th tyrosine hydroxylase ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chrNW_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137 		JBrowse link
Marinesco-Sjogren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Marinesco-Sjogren Syndrome | ClinVar Annotator: match by term: Marinesco-Sjogren-Garland Syndrome | ClinVar Annotator: match by term: Marinesco-Sjögren syndrome ClinVar PMID:9536098 PMID:10665502 PMID:12692552 PMID:16199547 PMID:16282977 More... NCBI chrNW_004955418:1,322,644...1,583,352
Ensembl chrNW_004955418:1,392,985...1,583,376 		JBrowse link
mitochondrial DNA depletion syndrome 16B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) ClinVar PMID:25741868 PMID:28492532 PMID:31778857 NCBI chrNW_004955478:7,416,609...7,429,817 JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31778857 NCBI chrNW_004955478:7,376,240...7,396,647
Ensembl chrNW_004955478:7,376,712...7,396,647 		JBrowse link
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia ClinVar PMID:29764912 NCBI chrNW_004955421:28,010,756...28,041,336
Ensembl chrNW_004955421:28,008,733...28,042,116 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | ClinVar Annotator: match by term: mitochondrial hepatopathy OMIM
ClinVar		 PMID:11431692 PMID:12707443 PMID:12872260 PMID:16135556 PMID:17614277 More... NCBI chrNW_004955485:9,193,838...9,198,697
Ensembl chrNW_004955485:9,191,919...9,198,697 		JBrowse link
Myelocerebellar Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9l sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome | ClinVar Annotator: match by term: Myelocerebellar disorder OMIM
ClinVar		 PMID:283689 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 More... NCBI chrNW_004955432:10,007,631...10,028,989
Ensembl chrNW_004955432:10,007,936...10,012,693 		JBrowse link
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Caprin1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline OMIM
ClinVar		 PMID:25741868 PMID:36136249 NCBI chrNW_004955422:12,126,893...12,170,877 JBrowse link
nonprogressive cerebellar ataxia with mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadacl3 arylacetamide deacetylase like 3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004955486:577,468...586,176
Ensembl chrNW_004955486:577,468...586,176 		JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: CAMTA1-related condition | ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities OMIM
ClinVar		 PMID:22693284 PMID:24738973 PMID:25326637 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955486:5,115,469...5,890,028
Ensembl chrNW_004955486:5,116,677...5,872,167 		JBrowse link
G Cfap107 cilia and flagella associated protein 107 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004955486:538,170...551,522
Ensembl chrNW_004955486:538,143...551,488 		JBrowse link
G Dhrs3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004955486:1,439,179...1,473,476
Ensembl chrNW_004955486:1,439,179...1,474,130 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004955486:1,937,873...1,962,577
Ensembl chrNW_004955486:1,937,802...1,962,772 		JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004955486:1,922,569...1,930,621
Ensembl chrNW_004955486:1,922,738...1,931,239 		JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004955492:4,014,912...4,096,659
Ensembl chrNW_004955492:4,014,912...4,096,829 		JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004955486:1,967,771...1,990,561
Ensembl chrNW_004955486:1,967,167...1,990,561 		JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004955404:28,812,762...28,818,024 JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004955486:8,139,848...8,327,788
Ensembl chrNW_004955486:8,137,531...8,327,977 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004955452:6,409,833...6,467,841
Ensembl chrNW_004955452:6,409,833...6,467,841 		JBrowse link
G Smyd3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004955406:8,768,365...9,417,612
Ensembl chrNW_004955406:8,768,588...9,417,525 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004955486:1,839,642...1,910,080 JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chrNW_004955486:1,515,630...1,772,107
Ensembl chrNW_004955486:1,513,712...1,767,956 		JBrowse link
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42bpa CDC42 binding protein kinase alpha ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar PMID:24164873 NCBI chrNW_004955406:9,906,195...10,178,281
Ensembl chrNW_004955406:9,906,195...10,174,465 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: COQ8A-related condition | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9 OMIM
ClinVar		 PMID:9536098 PMID:12682339 PMID:15326254 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955406:10,180,415...10,217,450
Ensembl chrNW_004955406:10,180,415...10,217,505 		JBrowse link
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,933,550...14,989,492
Ensembl chrNW_004955442:14,933,550...14,989,492 		JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,310,289...13,433,816
Ensembl chrNW_004955442:13,310,289...13,434,971 		JBrowse link
G Amdhd2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,775,528...14,791,650
Ensembl chrNW_004955442:14,782,755...14,791,649 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,752,468...12,775,081
Ensembl chrNW_004955442:12,752,008...12,775,081 		JBrowse link
G Antkmt adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,482,450...16,484,164
Ensembl chrNW_004955442:16,482,450...16,484,164 		JBrowse link
G Arhgdig Rho GDP dissociation inhibitor gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,901,951...16,903,147
Ensembl chrNW_004955442:16,898,552...16,903,685 		JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit c ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,791,795...14,798,066
Ensembl chrNW_004955442:14,791,795...14,798,066 		JBrowse link
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,845,728...16,898,301
Ensembl chrNW_004955442:16,843,152...16,898,430 		JBrowse link
G Baiap3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,884,034...15,897,894
Ensembl chrNW_004955442:15,884,034...15,898,396 		JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,306,144...14,314,060
Ensembl chrNW_004955442:14,306,041...14,313,620 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,054,116...15,056,506
Ensembl chrNW_004955442:15,055,513...15,060,526 		JBrowse link
G C1qtnf8 C1q and TNF related 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,159,901...16,162,152 JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,047,965...16,108,862
Ensembl chrNW_004955442:16,045,895...16,108,862 		JBrowse link
G Capn15 calpain 15 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,649,600...16,674,252
Ensembl chrNW_004955442:16,650,806...16,662,086 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,075,427...15,092,786
Ensembl chrNW_004955442:15,030,219...15,092,786 		JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,792,593...15,800,410
Ensembl chrNW_004955442:15,793,049...15,800,364 		JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,478,219...16,482,452
Ensembl chrNW_004955442:16,478,795...16,482,263 		JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,864,935...14,890,802
Ensembl chrNW_004955442:14,865,954...14,890,709 		JBrowse link
G Cdip1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,895,403...12,913,517
Ensembl chrNW_004955442:12,895,702...12,913,517 		JBrowse link
G Chtf18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,414,564...16,423,386 JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,465,759...16,475,110
Ensembl chrNW_004955442:16,465,178...16,475,110 		JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,762,369...15,791,635
Ensembl chrNW_004955442:15,761,498...15,791,635 		JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,323,193...14,326,311
Ensembl chrNW_004955442:14,323,193...14,326,311 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,326,705...14,328,150
Ensembl chrNW_004955442:14,327,140...14,327,793 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,843,952...13,890,082
Ensembl chrNW_004955442:13,842,784...13,885,860 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,010,032...13,084,897
Ensembl chrNW_004955442:13,009,977...13,084,355 		JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,563,545...15,625,163
Ensembl chrNW_004955442:15,563,355...15,624,886 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004 		JBrowse link
G CUNH16orf90 chromosome unknown C16orf90 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,890,284...13,892,362 JBrowse link
G CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,834,662...12,879,308
Ensembl chrNW_004955442:12,839,570...12,879,144 		JBrowse link
G Decr2 2,4-dienoyl-CoA reductase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,799,927...16,807,199
Ensembl chrNW_004955442:16,797,190...16,807,199 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,738,888...12,752,306 JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,971,031...13,002,605
Ensembl chrNW_004955442:12,967,438...13,010,943 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,733,107...13,736,527 JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,028,168...15,031,110
Ensembl chrNW_004955442:15,028,168...15,031,110 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,031,210...15,041,437
Ensembl chrNW_004955442:15,030,363...15,041,877 		JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,010,412...15,027,014
Ensembl chrNW_004955442:15,010,412...15,027,014 		JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,498,666...14,501,895
Ensembl chrNW_004955442:14,498,725...14,502,135 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,492,925...15,496,639
Ensembl chrNW_004955442:15,493,911...15,496,620 		JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,450,066...15,451,797 JBrowse link
G Fam234a family with sequence similarity 234 member A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,915,630...16,950,809
Ensembl chrNW_004955442:16,912,388...16,951,432 		JBrowse link
G Fbxl16 F-box and leucine rich repeat protein 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,498,903...16,510,640
Ensembl chrNW_004955442:16,498,903...16,510,635 		JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,392,901...14,419,178
Ensembl chrNW_004955442:14,386,276...14,418,328 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,280,753...15,283,405
Ensembl chrNW_004955442:15,281,419...15,283,266 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,097,636...13,113,514
Ensembl chrNW_004955442:13,097,636...13,105,210 		JBrowse link
G Gng13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,408,295...16,414,608
Ensembl chrNW_004955442:16,408,295...16,414,608 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,870,409...15,881,552
Ensembl chrNW_004955442:15,870,619...15,881,511 		JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,451,910...15,465,211
Ensembl chrNW_004955442:15,451,910...15,465,211 		JBrowse link
G Haghl hydroxyacylglutathione hydrolase like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,475,155...16,478,147
Ensembl chrNW_004955442:16,475,384...16,477,623 		JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,318,071...14,319,549
Ensembl chrNW_004955442:14,318,071...14,319,549 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,913,983...12,947,412
Ensembl chrNW_004955442:12,913,983...12,920,152 		JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,337,106...15,344,453
Ensembl chrNW_004955442:15,337,106...15,347,251 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 More... NCBI chrNW_004955442:15,625,429...15,719,006
Ensembl chrNW_004955442:15,630,501...15,718,484 		JBrowse link
G Igfals insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,469,602...15,482,115
Ensembl chrNW_004955442:15,478,202...15,482,115 		JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,519,394...16,521,106
Ensembl chrNW_004955442:16,519,397...16,521,106 		JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,549,223...15,563,027
Ensembl chrNW_004955442:15,549,223...15,563,268 		JBrowse link
G Kctd5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,658,612...14,684,928
Ensembl chrNW_004955442:14,658,612...14,684,928 		JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,376,466...14,381,106
Ensembl chrNW_004955442:14,376,466...14,381,106 		JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,250,131...16,360,907
Ensembl chrNW_004955442:16,245,081...16,360,846 		JBrowse link
G LOC102009553 chromosome unknown open reading frame, human C16orf91 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,820,684...15,821,784
Ensembl chrNW_004955442:15,820,753...15,825,390 		JBrowse link
G LOC102028688 olfactory receptor 15 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,000,372...14,005,737
Ensembl chrNW_004955442:14,000,372...14,001,310 		JBrowse link
G Luc7l LUC7 like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,965,788...16,997,329
Ensembl chrNW_004955442:16,965,788...16,997,329 		JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,498,909...15,545,298
Ensembl chrNW_004955442:15,498,909...15,545,298 		JBrowse link
G Mcrip2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,554,321...16,559,404
Ensembl chrNW_004955442:16,554,321...16,559,404 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,068,436...14,093,889
Ensembl chrNW_004955442:14,068,348...14,094,016 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,409,344...15,444,996
Ensembl chrNW_004955442:15,409,344...15,444,996 		JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,485,482...16,488,949
Ensembl chrNW_004955442:16,485,482...16,488,949 		JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,571,339...16,572,780
Ensembl chrNW_004955442:16,570,831...16,572,780 		JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,780,795...12,823,716
Ensembl chrNW_004955442:12,781,539...12,824,222 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,056,363...15,060,300
Ensembl chrNW_004955442:15,056,363...15,060,300 		JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,288,139...14,302,154
Ensembl chrNW_004955442:14,286,615...14,300,737 		JBrowse link
G Mrpl28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,831,641...16,835,133
Ensembl chrNW_004955442:16,831,913...16,834,878 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,496,639...15,497,757
Ensembl chrNW_004955442:15,496,639...15,497,757 		JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,322,961...15,328,311
Ensembl chrNW_004955442:15,323,039...15,327,406 		JBrowse link
G Naa60 N-alpha-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,895,248...13,926,152
Ensembl chrNW_004955442:13,895,248...13,918,723 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,306,688...15,309,281
Ensembl chrNW_004955442:15,306,741...15,309,167 		JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,224,214...15,235,372
Ensembl chrNW_004955442:15,224,214...15,235,379 		JBrowse link
G Nhlrc4 NHL repeat containing 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,634,672...16,637,815 JBrowse link
G Nlrc3 NLR family CARD domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,795,322...13,834,362
Ensembl chrNW_004955442:13,814,434...13,833,222 		JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,497,779...15,498,873
Ensembl chrNW_004955442:15,497,779...15,498,873 		JBrowse link
G Nme4 NME/NM23 nucleoside diphosphate kinase 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,808,215...16,811,302
Ensembl chrNW_004955442:16,808,215...16,811,302 		JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,960,559...12,967,186
Ensembl chrNW_004955442:12,959,931...12,967,282 		JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,288,495...15,290,601
Ensembl chrNW_004955442:15,288,602...15,290,418 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,241,140...15,244,387
Ensembl chrNW_004955442:15,241,231...15,242,064 		JBrowse link
G Nthl1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,210,799...15,223,272
Ensembl chrNW_004955442:15,217,019...15,223,272 		JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,838,076...14,840,857
Ensembl chrNW_004955442:14,838,076...14,840,857 		JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,482,916...15,486,830
Ensembl chrNW_004955442:15,483,549...15,486,741 		JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,761,962...12,777,549
Ensembl chrNW_004955442:12,775,630...12,777,549 		JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,087,082...13,097,048
Ensembl chrNW_004955442:13,087,092...13,097,048 		JBrowse link
G Paqr4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,373,092...14,375,862
Ensembl chrNW_004955442:14,373,092...14,375,862 		JBrowse link
G Pdia2 protein disulfide isomerase family A member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,898,563...16,901,867
Ensembl chrNW_004955442:16,898,635...16,901,799 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,685,089...14,772,870
Ensembl chrNW_004955442:14,685,153...14,772,870 		JBrowse link
G Pgap6 post-GPI attachment to proteins 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,821,275...16,830,275 JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,051,149...15,053,123
Ensembl chrNW_004955442:15,051,183...15,052,289 		JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,620,009...16,635,308
Ensembl chrNW_004955442:16,620,009...16,631,343 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377 		JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,368,110...14,372,365
Ensembl chrNW_004955442:14,364,031...14,372,365 		JBrowse link
G Prr35 proline rich 35 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,639,379...16,644,669
Ensembl chrNW_004955442:16,639,369...16,645,512 		JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,618,859...14,623,508
Ensembl chrNW_004955442:14,618,859...14,623,508 		JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,636,739...14,656,877
Ensembl chrNW_004955442:14,651,902...14,656,877 		JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,521,485...14,524,632
Ensembl chrNW_004955442:14,521,485...14,524,632 		JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,527,717...14,532,265 JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,750,881...15,757,906
Ensembl chrNW_004955442:15,752,957...15,756,801 		JBrowse link
G Rab11fip3 RAB11 family interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,678,136...16,760,663
Ensembl chrNW_004955442:16,674,867...16,736,921 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,114,333...15,119,481
Ensembl chrNW_004955442:15,114,333...15,120,123 		JBrowse link
G Rab40c RAB40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,577,843...16,614,132
Ensembl chrNW_004955442:16,577,843...16,614,639 		JBrowse link
G Rgs11 regulator of G protein signaling 11 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,905,982...16,914,772
Ensembl chrNW_004955442:16,905,982...16,914,772 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,525,009...16,528,780
Ensembl chrNW_004955442:16,525,009...16,528,780 		JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,528,886...16,534,856 JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,300,228...15,303,645
Ensembl chrNW_004955442:15,300,178...15,302,171 		JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,995,404...15,009,358
Ensembl chrNW_004955442:14,995,404...15,009,358 		JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,694,197...12,700,181
Ensembl chrNW_004955442:12,694,197...12,700,181 		JBrowse link
G Rpl3l ribosomal protein L3 like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,311,336...15,322,578
Ensembl chrNW_004955442:15,313,729...15,322,578 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,304,306...15,306,599 JBrowse link
G Rpusd1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,423,526...16,426,623
Ensembl chrNW_004955442:16,423,526...16,430,265 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,704,546...12,717,905
Ensembl chrNW_004955442:12,705,034...12,719,140 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,765,660...13,792,106
Ensembl chrNW_004955442:13,770,340...13,791,314 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,700,461...12,701,283
Ensembl chrNW_004955442:12,700,461...12,701,283 		JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,236,286...16,241,093
Ensembl chrNW_004955442:16,236,232...16,241,152 		JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,486,845...15,493,422
Ensembl chrNW_004955442:15,487,475...15,493,422 		JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,200,237...13,242,816
Ensembl chrNW_004955442:13,200,440...13,238,227 		JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,478,350...14,498,152
Ensembl chrNW_004955442:14,482,154...14,497,639 		JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,169,069...16,176,054
Ensembl chrNW_004955442:16,168,941...16,176,203 		JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,521,130...16,523,733
Ensembl chrNW_004955442:16,521,130...16,523,468 		JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,273,597...15,277,740
Ensembl chrNW_004955442:15,272,692...15,277,765 		JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224 		JBrowse link
G Tbl3 transducin beta like 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,290,759...15,297,070
Ensembl chrNW_004955442:15,290,759...15,297,442 		JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,856,517...14,862,391
Ensembl chrNW_004955442:14,856,269...14,862,338 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,719,082...15,733,527
Ensembl chrNW_004955442:15,719,521...15,734,087 		JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,160,467...13,174,288
Ensembl chrNW_004955442:13,160,450...13,175,057 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,314,100...14,317,726
Ensembl chrNW_004955442:14,314,100...14,317,724 		JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,678,938...15,701,554
Ensembl chrNW_004955442:15,676,155...15,701,554 		JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,320,159...14,322,146
Ensembl chrNW_004955442:14,320,159...14,322,146 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,092,955...15,112,842
Ensembl chrNW_004955442:15,092,955...15,112,840 		JBrowse link
G Trap1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,697,471...13,733,161
Ensembl chrNW_004955442:13,696,810...13,733,161 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362 		JBrowse link
G Tsr3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,881,663...15,884,222
Ensembl chrNW_004955442:15,881,678...15,884,008 		JBrowse link
G Ubald1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:12,828,567...12,834,355
Ensembl chrNW_004955442:12,828,567...12,834,355 		JBrowse link
G Ube2i ubiquitin conjugating enzyme E2 I ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,902,026...15,913,033
Ensembl chrNW_004955442:15,901,980...15,913,037 		JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:15,827,352...15,870,561
Ensembl chrNW_004955442:15,827,350...15,870,561 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,060,923...13,071,303
Ensembl chrNW_004955442:13,060,923...13,071,303 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 PMID:33002628 PMID:33532864 NCBI chrNW_004955443:8,053,847...8,122,918
Ensembl chrNW_004955443:8,053,847...8,123,110 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,513,074...16,519,296
Ensembl chrNW_004955442:16,513,448...16,519,296 		JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,534,951...16,552,856
Ensembl chrNW_004955442:16,535,176...16,552,781 		JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004955442:16,573,094...16,577,650
Ensembl chrNW_004955442:16,569,046...16,577,650 		JBrowse link
G Zg16b zymogen granule protein 16B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,569,492...14,572,282 JBrowse link
G Znf174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,966,438...13,977,583
Ensembl chrNW_004955442:13,966,877...13,976,452 		JBrowse link
G Znf200 zinc finger protein 200 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,099,237...14,123,739
Ensembl chrNW_004955442:14,100,879...14,122,310 		JBrowse link
G Znf205 zinc finger protein 205 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,242,239...14,249,276
Ensembl chrNW_004955442:14,242,423...14,249,309 		JBrowse link
G Znf213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,217,982...14,228,064
Ensembl chrNW_004955442:14,218,810...14,228,151 		JBrowse link
G Znf263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,053,845...14,061,497
Ensembl chrNW_004955442:14,053,851...14,061,497 		JBrowse link
G Znf597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:13,926,675...13,933,490
Ensembl chrNW_004955442:13,926,440...13,935,055 		JBrowse link
G Znf598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:15,253,649...15,265,420
Ensembl chrNW_004955442:15,252,927...15,269,087 		JBrowse link
G Znf75a zinc finger protein 75a ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,033,491...14,045,086 JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004955442:14,270,056...14,280,877 JBrowse link
spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 onset ISO DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human)
ClinVar Annotator: match by term: Spastic ataxia		 RGD
ClinVar		 PMID:22022284 PMID:25741868 RGD:11532672 NCBI chrNW_004955402:1,037,414...1,069,165
Ensembl chrNW_004955402:1,037,402...1,069,165 		JBrowse link
G Ahdc1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955452:6,767,250...6,832,989
Ensembl chrNW_004955452:6,767,266...6,832,868 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955426:19,570,179...19,580,920
Ensembl chrNW_004955426:19,570,070...19,580,818 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955435:13,029,377...13,040,972
Ensembl chrNW_004955435:13,028,916...13,043,928 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 More... NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 More... NCBI chrNW_004955431:5,228,395...5,297,120
Ensembl chrNW_004955431:5,229,126...5,269,616 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955451:11,136,885...11,194,321
Ensembl chrNW_004955451:11,137,214...11,194,036 		JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955440:17,364,996...17,497,446
Ensembl chrNW_004955440:17,371,321...17,497,616 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955438:13,585,469...13,708,170 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16909394 PMID:17345604 PMID:17564974 PMID:20690115 PMID:21602930 More... NCBI chrNW_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212 		JBrowse link
G Cln6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955450:7,876,572...7,885,305
Ensembl chrNW_004955450:7,876,522...7,886,581 		JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:31967322 More... NCBI chrNW_004955570:837,216...846,653
Ensembl chrNW_004955570:837,216...846,653 		JBrowse link
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955464:2,325,529...2,721,497
Ensembl chrNW_004955464:2,455,346...2,724,358 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955406:13,964,087...13,991,691
Ensembl chrNW_004955406:13,964,087...13,991,691 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955502:7,764,451...7,774,503
Ensembl chrNW_004955502:7,764,359...7,774,572 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9580660 PMID:23623389 PMID:25741868 PMID:28492532 NCBI chrNW_004955442:4,833,453...4,861,201
Ensembl chrNW_004955442:4,831,721...4,861,122 		JBrowse link
G Exosc8 exosome component 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955431:9,048,210...9,058,079
Ensembl chrNW_004955431:9,049,896...9,058,264 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chrNW_004955484:2,726,496...2,775,763
Ensembl chrNW_004955484:2,726,362...2,775,903 		JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955408:5,944,236...6,033,776
Ensembl chrNW_004955408:5,941,800...6,033,878 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955479:9,633,817...9,661,725
Ensembl chrNW_004955479:9,633,598...9,661,777 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26795590 PMID:27638593 PMID:28492532 PMID:30777126 More... NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384 		JBrowse link
G Gjc2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:22833003 PMID:25059390 PMID:25741868 PMID:28492532 PMID:33190326 More... NCBI chrNW_004955581:291,537...294,752 JBrowse link
G Glb1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:8922281 PMID:10841810 PMID:15714521 PMID:18524657 PMID:21497194 More... NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 PMID:34445196 NCBI chrNW_004955418:19,346...30,514
Ensembl chrNW_004955418:19,346...30,514 		JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:32707086 PMID:33970200 NCBI chrNW_004955464:12,936,996...12,940,050 JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955437:14,749,808...15,457,274
Ensembl chrNW_004955437:14,749,914...15,454,028 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955542:756,834...832,805
Ensembl chrNW_004955542:756,835...832,889 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chrNW_004955467:10,399,768...10,423,249
Ensembl chrNW_004955467:10,399,768...10,422,712 		JBrowse link
G LOC102011427 chromosome unknown open reading frame, human C19orf12 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955468:7,903,438...7,914,038
Ensembl chrNW_004955468:7,903,432...7,914,038 		JBrowse link
G LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426 		JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955492:4,161,976...4,371,637
Ensembl chrNW_004955492:4,209,749...4,369,762 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955451:4,805,542...4,818,233
Ensembl chrNW_004955451:4,804,838...4,821,556 		JBrowse link
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955429:21,768,011...21,792,481
Ensembl chrNW_004955429:21,767,547...21,794,885 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955451:16,445,338...16,449,243
Ensembl chrNW_004955451:16,445,338...16,450,062 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:25741868 PMID:28492532 NCBI chrNW_004955486:8,785,199...8,801,914
Ensembl chrNW_004955486:8,785,174...8,791,247 		JBrowse link
G Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955467:8,025,231...8,091,406
Ensembl chrNW_004955467:8,065,857...8,091,486 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537 		JBrowse link
G Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chrNW_004955563:1,681,112...1,703,287
Ensembl chrNW_004955563:1,680,818...1,703,287 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12382155 PMID:16759889 PMID:19302939 PMID:21990111 PMID:23374165 More... NCBI chrNW_004955452:17,518,345...17,549,112
Ensembl chrNW_004955452:17,529,115...17,549,664 		JBrowse link
G Pum1 pumilio RNA binding family member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955452:9,487,725...9,623,565
Ensembl chrNW_004955452:9,487,725...9,624,066 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955497:3,701,515...3,752,627
Ensembl chrNW_004955497:3,706,882...3,754,663 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971 		JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chrNW_004955443:19,759,772...19,859,188
Ensembl chrNW_004955443:19,822,811...19,863,495 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28708278 NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021 		JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955426:21,371,985...21,450,749
Ensembl chrNW_004955426:21,371,985...21,451,069 		JBrowse link
G Slc25a46 solute carrier family 25 member 46 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:31847883 PMID:34445196 NCBI chrNW_004955418:4,316,790...4,342,748
Ensembl chrNW_004955418:4,316,790...4,341,973 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16055926 PMID:16240363 PMID:25741868 PMID:28492532 PMID:28572275 More... NCBI chrNW_004955441:471,609...521,920
Ensembl chrNW_004955441:485,815...520,452 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955416:11,084,448...11,168,478
Ensembl chrNW_004955416:11,086,176...11,168,332 		JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 More... NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:19542096 PMID:24319099 PMID:25741868 PMID:26467025 PMID:27086870 More... NCBI chrNW_004955439:9,131,227...9,574,112 JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955466:5,646,516...5,926,382 JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955416:9,412,297...9,518,561
Ensembl chrNW_004955416:9,412,297...9,559,655 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12955714 PMID:15605410 PMID:17603484 PMID:18060660 PMID:20301750 More... NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610 		JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapbpl TAP binding protein like ISO ClinVar Annotator: match by term: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chrNW_004955413:4,108,044...4,116,413
Ensembl chrNW_004955413:4,108,052...4,115,760 		JBrowse link
G Vamp1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia 1 OMIM
ClinVar		 PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chrNW_004955413:4,117,367...4,124,149
Ensembl chrNW_004955413:4,117,367...4,124,149 		JBrowse link
Spastic Ataxia 10, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26185144 PMID:28492532 More... NCBI chrNW_004955570:837,216...846,653
Ensembl chrNW_004955570:837,216...846,653 		JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,375,017...10,391,546
Ensembl chrNW_004955467:10,375,017...10,392,363 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,312,620...10,318,700
Ensembl chrNW_004955467:10,312,620...10,318,638 		JBrowse link
G CUNH17orf107 chromosome unknown C17orf107 homolog ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,313,693...10,314,724
Ensembl chrNW_004955467:10,313,769...10,314,694 		JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,363,154...10,368,261
Ensembl chrNW_004955467:10,361,705...10,368,755 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,333,537...10,347,488
Ensembl chrNW_004955467:10,333,575...10,346,989 		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 chrNW_004955467:10,391,957...10,397,212
Ensembl chrNW_004955467:10,392,219...10,397,168 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17273843 PMID:17576681 PMID:24319291 More... NCBI chrNW_004955467:10,399,768...10,423,249
Ensembl chrNW_004955467:10,399,768...10,422,712 		JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,357,838...10,360,651
Ensembl chrNW_004955467:10,357,838...10,360,651 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,352,650...10,357,214
Ensembl chrNW_004955467:10,353,291...10,357,021 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,349,378...10,352,649
Ensembl chrNW_004955467:10,349,378...10,355,368 		JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,369,493...10,374,540
Ensembl chrNW_004955467:10,368,840...10,375,179 		JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic ataxia 3 OMIM
ClinVar		 PMID:22448145 PMID:25741868 PMID:25741913 PMID:28492532 NCBI chrNW_004955403:2,967,541...2,970,443
Ensembl chrNW_004955403:2,968,574...2,970,387 		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 chrNW_004955497:3,701,515...3,752,627
Ensembl chrNW_004955497:3,706,882...3,754,663 		JBrowse link
spastic ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4 OMIM
ClinVar		 PMID:20970105 PMID:24651433 PMID:25008111 PMID:25741868 PMID:26319014 More... NCBI chrNW_004955429:21,768,011...21,792,481
Ensembl chrNW_004955429:21,767,547...21,794,885 		JBrowse link
spastic ataxia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia 5 OMIM
ClinVar		 PMID:22022284 PMID:25401298 PMID:25741868 PMID:25741914 PMID:26454370 More... NCBI chrNW_004955402:1,037,414...1,069,165
Ensembl chrNW_004955402:1,037,402...1,069,165 		JBrowse link
G Tubb6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Spastic ataxia 5 ClinVar PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 NCBI chrNW_004955402:1,071,135...1,081,385
Ensembl chrNW_004955402:1,070,858...1,081,385 		JBrowse link
spastic ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28575651 PMID:28969374 PMID:29388673 More... NCBI chrNW_004955477:10,386,033...10,387,423
Ensembl chrNW_004955477:10,386,033...10,387,423 		JBrowse link
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chp1 calcineurin like EF-hand protein 1 ISO OMIM NCBI chrNW_004955416:8,090,034...8,131,605
Ensembl chrNW_004955416:8,090,034...8,132,870 		JBrowse link
Spinocerebellar Ataxia 27A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 27A OMIM
ClinVar		 PMID:12489043 PMID:15470364 PMID:17978045 PMID:25566820 PMID:25741868 More... NCBI chrNW_004955404:8,704,344...9,329,917
Ensembl chrNW_004955404:8,705,112...9,325,117 		JBrowse link
Spinocerebellar Ataxia 27B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO OMIM NCBI chrNW_004955404:8,704,344...9,329,917
Ensembl chrNW_004955404:8,705,112...9,325,117 		JBrowse link
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: CACNA1G-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878067 PMID:30792901 PMID:31217264 More... NCBI chrNW_004955451:11,136,885...11,194,321
Ensembl chrNW_004955451:11,137,214...11,194,036 		JBrowse link
spinocerebellar ataxia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 44 OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28886343 NCBI chrNW_004955436:14,264,470...14,377,581
Ensembl chrNW_004955436:14,264,387...14,644,622 		JBrowse link
spinocerebellar ataxia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:25741868 NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967 		JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45 OMIM
ClinVar		 PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346 NCBI chrNW_004955408:5,944,236...6,033,776
Ensembl chrNW_004955408:5,941,800...6,033,878 		JBrowse link
spinocerebellar ataxia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 46 OMIM
ClinVar		 PMID:8595484 PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 More... NCBI chrNW_004955578:884,700...905,426
Ensembl chrNW_004955578:884,700...894,433 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 46 ClinVar PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 More... NCBI chrNW_004955578:852,789...873,319
Ensembl chrNW_004955578:868,534...874,168 		JBrowse link
Spinocerebellar Ataxia 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9l sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 49 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29146900 PMID:35310830 NCBI chrNW_004955432:10,007,631...10,028,989
Ensembl chrNW_004955432:10,007,936...10,012,693 		JBrowse link
Spinocerebellar Ataxia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nptx1 neuronal pentraxin 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 50 OMIM
ClinVar		 PMID:25741868 PMID:34788392 PMID:35285082 PMID:35560436 NCBI chrNW_004955506:2,447,429...2,456,612
Ensembl chrNW_004955506:2,447,109...2,456,965 		JBrowse link
Spinocerebellar Ataxia and Plaque-Like Deposits term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein (Kanno blood group) ISO ClinVar Annotator: match by term: Spinocerebellar ataxia and plaque-like deposits ClinVar PMID:1353341 PMID:1363810 PMID:1672296 PMID:1674033 PMID:1677164 More... NCBI chrNW_004955415:15,442,313...15,454,644
Ensembl chrNW_004955415:15,442,313...15,454,644 		JBrowse link
spinocerebellar ataxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn1 ataxin 1 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATROPHY I | ClinVar Annotator: match by term: Spinocerebellar ataxia type 1 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004955483:9,159,877...9,559,453
Ensembl chrNW_004955483:9,536,261...9,552,321 		JBrowse link
spinocerebellar ataxia type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn10 ataxin 10 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 10 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004955413:29,956,904...30,104,868
Ensembl chrNW_004955413:29,981,236...30,104,552 		JBrowse link
spinocerebellar ataxia type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 11 | ClinVar Annotator: match by term: TTBK2-related condition OMIM
ClinVar		 PMID:18037885 PMID:19533200 PMID:20301723 PMID:22073189 PMID:24808823 More... NCBI chrNW_004955416:9,412,297...9,518,561
Ensembl chrNW_004955416:9,412,297...9,559,655 		JBrowse link
spinocerebellar ataxia type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta ISO ClinVar Annotator: match by term: PPP2R2B-Related Disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia type 12 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004955415:7,054,296...7,510,179
Ensembl chrNW_004955415:7,090,671...7,511,995 		JBrowse link
spinocerebellar ataxia type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnc3 potassium voltage-gated channel subfamily C member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 13 OMIM
ClinVar		 PMID:10820125 PMID:16135769 PMID:16501573 PMID:18592334 PMID:19953606 More... NCBI chrNW_004955559:782,842...795,455 JBrowse link
spinocerebellar ataxia type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcg protein kinase C gamma ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 14 OMIM
ClinVar		 PMID:9545390 PMID:12164726 PMID:12644968 PMID:14676051 PMID:14694043 More... NCBI chrNW_004955604:262,182...279,259
Ensembl chrNW_004955604:262,071...279,259 		JBrowse link
spinocerebellar ataxia type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102020128 histone-lysine N-methyltransferase SETMAR ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 ClinVar PMID:17932120 PMID:20669319 PMID:21681106 NCBI chrNW_004955421:9,066,906...9,080,352 JBrowse link
spinocerebellar ataxia type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955458:4,188,167...4,195,575
Ensembl chrNW_004955458:4,186,461...4,195,494 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955419:3,055,420...3,060,208
Ensembl chrNW_004955419:3,055,420...3,062,131 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955412:23,863,513...23,867,984
Ensembl chrNW_004955412:23,862,590...23,867,984 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955412:20,149,104...20,161,378
Ensembl chrNW_004955412:20,148,953...20,161,172 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604 		JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955506:1,307,932...1,322,011
Ensembl chrNW_004955506:1,307,932...1,324,027 		JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955416:10,197,957...10,221,104
Ensembl chrNW_004955416:10,198,099...10,220,792 		JBrowse link
G Tbp TATA-box binding protein ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 17 ClinVar
OMIM		 PMID:25741868 NCBI chrNW_004955411:3,268,147...3,285,567
Ensembl chrNW_004955411:3,268,147...3,285,077 		JBrowse link
spinocerebellar ataxia type 19/22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 ClinVar PMID:25741868 NCBI chrNW_004955495:4,800,103...4,807,714
Ensembl chrNW_004955495:4,799,922...4,807,252 		JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 OMIM
ClinVar		 PMID:9536098 PMID:11284128 PMID:17576681 PMID:17581856 PMID:21349352 More... NCBI chrNW_004955435:15,227,386...15,431,136
Ensembl chrNW_004955435:15,227,615...15,431,190 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955526:4,330,388...4,465,810
Ensembl chrNW_004955526:4,330,388...4,465,528 		JBrowse link
spinocerebellar ataxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 susceptibility ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 2 ClinVar
OMIM		 PMID:25741868 NCBI chrNW_004955482:8,101,410...8,187,815
Ensembl chrNW_004955482:8,101,917...8,216,219 		JBrowse link
spinocerebellar ataxia type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 21 ClinVar PMID:26581903 PMID:30531813 NCBI chrNW_004955422:19,730,224...19,742,348
Ensembl chrNW_004955422:19,730,224...19,742,348 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 21 OMIM
ClinVar		 PMID:11160961 PMID:25070513 PMID:25741868 PMID:28492532 PMID:30522958 More... NCBI chrNW_004955486:9,339,489...9,344,025
Ensembl chrNW_004955486:9,339,479...9,344,025 		JBrowse link
spinocerebellar ataxia type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 23 OMIM
ClinVar		 PMID:21035104 PMID:22243190 PMID:22287014 PMID:23108490 PMID:23355175 More... NCBI chrNW_004955415:13,106,087...13,119,497
Ensembl chrNW_004955415:13,106,062...13,119,515 		JBrowse link
spinocerebellar ataxia type 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 25 OMIM
ClinVar		 PMID:11080643 PMID:14705117 PMID:24088041 PMID:25326635 PMID:25457163 More... NCBI chrNW_004955424:27,407,451...27,449,830
Ensembl chrNW_004955424:27,407,489...27,448,992 		JBrowse link
spinocerebellar ataxia type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 26 OMIM
ClinVar		 PMID:15732118 PMID:23001565 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chrNW_004955495:4,800,103...4,807,714
Ensembl chrNW_004955495:4,799,922...4,807,252 		JBrowse link
spinocerebellar ataxia type 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 More... NCBI chrNW_004955404:8,704,344...9,329,917
Ensembl chrNW_004955404:8,705,112...9,325,117 		JBrowse link
G Itgbl1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:25741868 NCBI chrNW_004955404:9,331,407...9,545,711
Ensembl chrNW_004955404:9,332,169...9,546,245 		JBrowse link
spinocerebellar ataxia type 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 OMIM
ClinVar		 PMID:16251216 PMID:20208537 PMID:20354562 PMID:20725928 PMID:23777634 More... NCBI chrNW_004955402:1,037,414...1,069,165
Ensembl chrNW_004955402:1,037,402...1,069,165 		JBrowse link
G Tubb6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 ClinVar PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 NCBI chrNW_004955402:1,071,135...1,081,385
Ensembl chrNW_004955402:1,070,858...1,081,385 		JBrowse link
spinocerebellar ataxia type 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bean1 brain expressed associated with NEDD4 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 OMIM
ClinVar		 PMID:19878914 NCBI chrNW_004955433:23,017,335...23,059,054
Ensembl chrNW_004955433:23,017,335...23,061,467 		JBrowse link
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 ClinVar PMID:16001362 PMID:16614795 PMID:16780885 NCBI chrNW_004955484:9,344,830...9,356,182 JBrowse link
spinocerebellar ataxia type 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 34 OMIM
ClinVar		 PMID:5048218 PMID:24566826 PMID:25741868 PMID:26010696 PMID:28492532 More... NCBI chrNW_004955502:7,764,451...7,774,503
Ensembl chrNW_004955502:7,764,359...7,774,572 		JBrowse link
spinocerebellar ataxia type 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 35 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21106500 PMID:21907015 PMID:22287014 More... NCBI chrNW_004955415:13,470,268...13,499,500
Ensembl chrNW_004955415:13,470,701...13,499,422 		JBrowse link
spinocerebellar ataxia type 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 36 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004955415:13,637,505...13,642,809
Ensembl chrNW_004955415:13,637,595...13,643,938 		JBrowse link
spinocerebellar ataxia type 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 37 OMIM
ClinVar		 PMID:23700170 PMID:25741868 PMID:28686858 PMID:29939198 NCBI chrNW_004955464:2,325,529...2,721,497
Ensembl chrNW_004955464:2,455,346...2,724,358 		JBrowse link
spinocerebellar ataxia type 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl5 ELOVL fatty acid elongase 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 38 OMIM
ClinVar		 PMID:25065913 PMID:25741868 PMID:28492532 PMID:31294938 NCBI chrNW_004955411:2,747,232...2,812,544
Ensembl chrNW_004955411:2,747,232...2,812,544 		JBrowse link
spinocerebellar ataxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfhx3 zinc finger homeobox 3 ISO OMIM NCBI chrNW_004955484:5,470,203...5,746,325
Ensembl chrNW_004955484:5,474,769...5,789,707 		JBrowse link
spinocerebellar ataxia type 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 40 OMIM
ClinVar		 PMID:18414213 PMID:25062847 PMID:25741868 PMID:25741909 PMID:28492532 NCBI chrNW_004955438:13,585,469...13,708,170 JBrowse link
spinocerebellar ataxia type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 5 OMIM
ClinVar		 PMID:16429157 PMID:20368622 PMID:20603325 PMID:22843192 PMID:22914369 More... NCBI chrNW_004955422:18,659,489...18,699,338
Ensembl chrNW_004955422:18,659,489...18,699,338 		JBrowse link
spinocerebellar ataxia type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 6 OMIM
ClinVar		 PMID:8898206 PMID:9329229 PMID:9345107 PMID:10371528 PMID:10408534 More... NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595 		JBrowse link
spinocerebellar ataxia type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn7 ataxin 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 7 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004955517:1,897,050...1,980,428
Ensembl chrNW_004955517:1,892,757...1,980,524 		JBrowse link
spinocerebellar ataxia with axonal neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 OMIM
ClinVar		 PMID:12244316 PMID:12470949 PMID:15111055 PMID:15920477 PMID:17948061 More... NCBI chrNW_004955438:12,421,790...12,510,243
Ensembl chrNW_004955438:12,421,005...12,511,493 		JBrowse link
spinocerebellar ataxia with axonal neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ClinVar PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chrNW_004955472:2,645,716...2,664,394
Ensembl chrNW_004955472:2,652,869...2,664,272 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: SETX-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 OMIM
ClinVar		 PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More... NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021 		JBrowse link
spinocerebellar ataxia with axonal neuropathy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102016246 cytochrome c oxidase assembly factor 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM
ClinVar		 PMID:25741868 PMID:27683825 PMID:28492532 PMID:29718187 PMID:30885959 NCBI chrNW_004955464:6,472,158...6,490,618
Ensembl chrNW_004955464:6,472,053...6,497,526 		JBrowse link
Spinocerebellar Ataxia with Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Spinocerebellar ataxia with epilepsy ClinVar PMID:632821 PMID:1582434 PMID:11431686 PMID:11571332 PMID:12565911 More... NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651 		JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 susceptibility ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
DNA:missense mutation: :p.I400M (human)		 OMIM
ClinVar
RGD		 PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11843825 More... RGD:1598600 NCBI chrNW_004955562:1,079,884...1,220,806
Ensembl chrNW_004955562:1,077,198...1,221,061 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chrNW_004955475:2,362,368...2,382,680
Ensembl chrNW_004955475:2,362,118...2,377,864 		JBrowse link
X-linked spinocerebellar ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955562:1,079,884...1,220,806
Ensembl chrNW_004955562:1,077,198...1,221,061 		JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chrNW_004955475:4,451,094...4,470,750
Ensembl chrNW_004955475:4,463,023...4,466,406 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia OMIM
ClinVar		 PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:25741913 More... NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393 		JBrowse link
G Nhsl2 NHS like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955475:11,208,632...11,523,215
Ensembl chrNW_004955475:11,243,018...11,517,526 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chrNW_004955475:12,020,278...12,172,427
Ensembl chrNW_004955475:12,020,629...12,172,443 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955490:5,409,277...5,420,508
Ensembl chrNW_004955490:5,409,202...5,415,202 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        neurodegenerative disease 4401
          primary cerebellar degeneration 548
            Spinocerebellar Ataxias 516
              Boucher-Neuhauser syndrome 3
              Gemignani Syndrome 0
              Spinocerebellar Ataxia and Plaque-Like Deposits 1
              Spinocerebellar Ataxia with Dysmorphism 0
              Spinocerebellar Ataxia with Epilepsy 1
              Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 0
              X-linked sideroblastic anemia with ataxia 2
              X-linked spinocerebellar ataxia 1 7
              X-linked spinocerebellar ataxia 2 0
              X-linked spinocerebellar ataxia 3 0
              X-linked spinocerebellar ataxia 4 0
              X-linked spinocerebellar ataxia 5 0
              cerebellar ataxia + 442
              mitochondrial DNA depletion syndrome 16B 2
              spastic ataxia + 80
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            movement disease 2340
              Dyskinesias 2003
                Ataxia 876
                  Spinocerebellar Ataxias 516
                    Boucher-Neuhauser syndrome 3
                    Gemignani Syndrome 0
                    Spinocerebellar Ataxia and Plaque-Like Deposits 1
                    Spinocerebellar Ataxia with Dysmorphism 0
                    Spinocerebellar Ataxia with Epilepsy 1
                    Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 0
                    X-linked sideroblastic anemia with ataxia 2
                    X-linked spinocerebellar ataxia 1 7
                    X-linked spinocerebellar ataxia 2 0
                    X-linked spinocerebellar ataxia 3 0
                    X-linked spinocerebellar ataxia 4 0
                    X-linked spinocerebellar ataxia 5 0
                    cerebellar ataxia + 442
                    mitochondrial DNA depletion syndrome 16B 2
                    spastic ataxia + 80
paths to the root