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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
CTD
ClinVar
PMID:20208537, PMID:26467025 NCBI chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400
JBrowse link
G ANO10 anoctamin 10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:43,255,858...43,581,466
Ensembl chr 3:44,317,708...44,555,535
JBrowse link
G ATXN1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11719269, PMID:16122429, PMID:17322884, PMID:18337722 NCBI chr 6:16,155,049...16,952,827
Ensembl chr 6:16,526,563...16,548,566
JBrowse link
G ATXN10 ataxin 10 susceptibility ISO DNA:repeat:intron 9 RGD PMID:11017075 RGD:1599410 NCBI chr22:26,556,201...26,729,098
Ensembl chr22:44,733,466...44,906,582
JBrowse link
G ATXN1L ataxin 1 like ISO CTD Direct Evidence: therapeutic CTD PMID:17322884 NCBI chr16:53,153,416...53,165,311 JBrowse link
G ATXN2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19224595, PMID:20065139 NCBI chr12:109,024,620...109,174,135
Ensembl chr12:112,419,337...112,566,360
JBrowse link
G ATXN7 ataxin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25664129 NCBI chr 3:63,766,480...63,906,913
Ensembl chr 3:65,194,703...65,280,879
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 chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CASP7 caspase 7 ISO RGD PMID:17646170 RGD:5684537 NCBI chr10:110,273,318...110,324,800
Ensembl chr10:113,707,780...113,758,626
JBrowse link
G CCDC88C coiled-coil domain containing 88C ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:71,897,602...72,044,242
Ensembl chr14:91,244,434...91,393,715
JBrowse link
G CIC capicua transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18337722 NCBI chr19:39,156,204...39,183,498 JBrowse link
G CWF19L1 CWF19 like cell cycle control factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:96,838,064...96,873,478
Ensembl chr10:100,319,979...100,354,599
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive
ClinVar PMID:18414213, PMID:24033266, PMID:24136616, PMID:25741868, PMID:26100331, PMID:26344056, PMID:26378787, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G ELOVL5 ELOVL fatty acid elongase 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:52,822,038...52,902,122
Ensembl chr 6:54,451,887...54,485,878
JBrowse link
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar NCBI chr13:82,869,491...83,563,099 JBrowse link
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr 6:1,429,051...1,433,180 JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16122429 NCBI chr 1:95,139,171...95,151,054
Ensembl chr 1:93,876,245...93,883,528
JBrowse link
G GRID2 glutamate ionotropic receptor delta type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:84,663,030...86,170,778
Ensembl chr 4:95,339,460...96,807,748
JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive
ClinVar PMID:21367767, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29925855 NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
JBrowse link
G KAT2A lysine acetyltransferase 2A ISO protein:increased expression:retina (mouse) RGD PMID:15932940 RGD:9590239 NCBI chr17:15,194,414...15,202,818
Ensembl chr17:15,416,075...15,424,197
JBrowse link
G LOC100983419 voltage-dependent T-type calcium channel subunit alpha-1G ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:44,654,558...44,786,037
Ensembl chr17:49,529,402...49,595,166
Ensembl chr17:49,529,402...49,595,166
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, PMID:20301387, PMID:20642453, PMID:21885347, PMID:25243190, PMID:26930193, PMID:28492532 NCBI chr12:48,343,621...48,488,337
Ensembl chr12:49,205,930...49,350,462
JBrowse link
G MME membrane metalloendopeptidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119
JBrowse link
G NOP56 NOP56 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:2,760,689...2,766,596
Ensembl chr20:2,523,619...2,529,509
JBrowse link
G OPTN optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr10:13,104,335...13,142,725
Ensembl chr10:13,077,345...13,115,773
JBrowse link
G PDYN prodynorphin ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar NCBI chr20:2,092,171...2,108,141
Ensembl chr20:1,856,850...1,872,452
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Spinocerebellar atrophy ClinVar PMID:17436221, PMID:18546365, PMID:19364868, PMID:19762913, PMID:20176107, PMID:21880868, PMID:24091540, PMID:25741868, PMID:28492532 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta ISO DNA:repeat, SNPs, haplotype:multiple
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18940801, PMID:20629122 RGD:5686297 NCBI chr 5:142,037,831...142,521,655
Ensembl chr 5:148,050,581...148,533,329
JBrowse link
G PRKCG protein kinase C gamma ISO DNA:missense mutations:cds: (human)
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:12644968, PMID:20398063 RGD:737790 NCBI chr19:50,823,372...50,849,003
Ensembl chr19:59,672,097...59,695,977
JBrowse link
G RBM17 RNA binding motif protein 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18337722 NCBI chr10:6,129,708...6,157,513
Ensembl chr10:6,120,488...6,140,085
JBrowse link
G RUBCN rubicon autophagy regulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:195,088,936...195,166,771
Ensembl chr 3:204,973,968...205,034,011
JBrowse link
G SCYL1 SCY1 like pseudokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:60,884,136...60,897,790
Ensembl chr11:64,218,464...64,233,413
JBrowse link
G SNX14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:83,389,608...83,477,859
Ensembl chr 6:86,671,608...86,759,118
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive
CTD
ClinVar
PMID:17940722, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr11:62,042,617...62,086,634
Ensembl chr11:65,365,588...65,409,207
JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD Ensembl chr16:694,414...696,682 JBrowse link
G SYT14 synaptotagmin 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:185,508,466...185,735,732 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 chr 6:168,714,214...168,732,744
Ensembl chr 6:173,800,240...173,826,909
JBrowse link
G TDP2 tyrosyl-DNA phosphodiesterase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:24,487,551...24,505,268
Ensembl chr 6:24,819,494...24,837,189
JBrowse link
G TGM6 transglutaminase 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
CTD
ClinVar
PMID:26467025, PMID:28492532 NCBI chr20:2,509,000...2,543,650
Ensembl chr20:2,259,725...2,306,743
JBrowse link
G TRPC3 transient receptor potential cation channel subfamily C member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:114,079,395...114,153,014
Ensembl chr 4:125,217,086...125,289,014
JBrowse link
G TTBK2 tau tubulin kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
CTD
ClinVar
PMID:18037885 NCBI chr15:21,699,674...21,877,481 JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
ClinVar PMID:17614277, PMID:20479361, PMID:20659899, PMID:21689831, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:29458409 NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:129,732,314...129,752,579
Ensembl chr 3:137,209,715...137,227,147
JBrowse link
G VWA3B von Willebrand factor A domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2A:100,995,476...101,221,328 JBrowse link
G WWOX WW domain containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100974096 mitochondrial import inner membrane translocase subunit TIM14 ISO OMIM NCBI chr 3:178,019,161...178,025,272
Ensembl chr 3:186,191,128...186,195,666
JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ATM ATM serine/threonine kinase ISO OMIM NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211
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 chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BIK BCL2 interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr22:23,994,256...24,014,244
Ensembl chr22:42,207,149...42,213,022
JBrowse link
G C11H11orf65 chromosome 11 C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar PMID:2557216, PMID:3338800, PMID:6504056, PMID:7792600, PMID:8659541, PMID:8665503, PMID:8698354, PMID:8755918, PMID:8797579, PMID:8808599, PMID:8845835, PMID:8923007, PMID:9000145, PMID:9043869, PMID:9054948, PMID:9150358, PMID:9244351, PMID:9288106, PMID:9334731, PMID:9443866, PMID:9450874, PMID:9463314, PMID:9488043, PMID:9497252, PMID:9622061, PMID:9682216, PMID:9711876, PMID:9733514, PMID:9764584, PMID:9792409, PMID:9792410, PMID:9872980, PMID:9887333, PMID:10023947, PMID:10234507, PMID:10330348, PMID:10397742, PMID:10416970, PMID:10425038, PMID:10464642, PMID:10534763, PMID:10706620, PMID:10738255, PMID:10817650, PMID:10864201, PMID:10873394, PMID:10980530, PMID:11054065, PMID:11298136, PMID:11382771, PMID:11443540, PMID:11468183, PMID:11505391, PMID:11606401, PMID:11746755, PMID:11756177, PMID:11756185, PMID:11805335, PMID:11826028, PMID:11830610, PMID:11849780, PMID:11857346, PMID:11897822, PMID:12091354, PMID:12149228, PMID:12195425, PMID:12473594, PMID:12497634, PMID:12511424, PMID:12552559, PMID:12552566, PMID:12646636, PMID:12655570, PMID:12673797, PMID:12673804, PMID:12697903, PMID:12745884, PMID:12810666, PMID:12815592, PMID:12882767, PMID:12883528, PMID:12917204, PMID:12935922, PMID:12969974, PMID:14586414, PMID:14627829, PMID:14654357, PMID:14754616, PMID:14970866, PMID:15039971, PMID:15101044, PMID:15159313, PMID:15174027, PMID:15279808, PMID:15390180, PMID:15696190, PMID:15756685, PMID:15843990, PMID:15880721, PMID:15928302, PMID:16014569, PMID:16140923, PMID:16189143, PMID:16238588, PMID:16266405, PMID:16380133, PMID:16387360, PMID:16411093, PMID:16461462, PMID:16603769, PMID:16631465, PMID:16652348, PMID:16832357, PMID:16864838, PMID:16914028, PMID:16941484, PMID:16958054, PMID:17001622, PMID:17124347, PMID:17132159, PMID:17166884, PMID:17298726, PMID:17333338, PMID:17344846, PMID:17376192, PMID:17393301, PMID:17517479, PMID:17540590, PMID:17623063, PMID:17640065, PMID:17910737, PMID:17968022, PMID:18066086, PMID:18321536, PMID:18384426, PMID:18414213, PMID:18431795, PMID:18497957, PMID:18504682, PMID:18560558, PMID:18573109, PMID:18575927, PMID:18634022, PMID:18807267, PMID:18813293, PMID:19018867, PMID:19347964, PMID:19404735, PMID:19431188, PMID:19440741, PMID:19535770, PMID:19605768, PMID:19691550, PMID:19763152, PMID:19781682, PMID:19823873, PMID:20077034, PMID:20153123, PMID:20232390, PMID:20301790, PMID:20305132, PMID:20307669, PMID:20346647, PMID:20480175, PMID:20840352, PMID:20945614, PMID:20966255, PMID:21150274, PMID:21346221, PMID:21354641, PMID:21445571, PMID:21459046, PMID:21665257, PMID:21778326, PMID:21787400, PMID:21792198, PMID:21833744, PMID:21933854, PMID:21965147, PMID:21993670, PMID:22006793, PMID:22017321, PMID:22071889, PMID:22146522, PMID:22213089, PMID:22250480, PMID:22345219, PMID:22369572, PMID:22406018, PMID:22420423, PMID:22529920, PMID:22585167, PMID:22585170, PMID:22649200, PMID:22674506, PMID:22869595, PMID:22895193, PMID:22952040, PMID:22995991, PMID:23091097, PMID:23142947, PMID:23143971, PMID:23264026, PMID:23322442, PMID:23454770, PMID:23532176, PMID:23555315, PMID:23585368, PMID:23585524, PMID:23632773, PMID:23640770, PMID:23667852, PMID:23671275, PMID:23761041, PMID:23774824, PMID:23807571, PMID:23836671, PMID:23946315, PMID:24033266, PMID:24088041, PMID:24090759, PMID:24172824, PMID:24326041, PMID:24416720, PMID:24448499, PMID:24451234, PMID:24556621, PMID:24628946, PMID:24643969, PMID:24728327, PMID:24733792, PMID:24789685, PMID:24951259, PMID:25032865, PMID:25037873, PMID:25040471, PMID:25042771, PMID:25058500, PMID:25077176, PMID:25117502, PMID:25122203, PMID:25133958, PMID:25148578, PMID:25151137, PMID:25182519, PMID:25186627, PMID:25232094, PMID:25318351, PMID:25320358, PMID:25326635, PMID:25330149, PMID:25374739, PMID:25428789, PMID:25452441, PMID:25460276, PMID:25479140, PMID:25480502, PMID:25502423, PMID:25503501, PMID:25523272, PMID:25525159, PMID:25587027, PMID:25589003, PMID:25614872, PMID:25625042, PMID:25741868, PMID:25793145, PMID:25877891, PMID:25914063, PMID:25925381, PMID:25925954, PMID:25938944, PMID:25957637, PMID:25980754, PMID:26009992, PMID:26022348, PMID:26053404, PMID:26094658, PMID:26182300, PMID:26206375, PMID:26220245, PMID:26246601, PMID:26247737, PMID:26270727, PMID:26296696, PMID:26296701, PMID:26344566, PMID:26380989, PMID:26439923, PMID:26467025, PMID:26483394, PMID:26506520, PMID:26530882, PMID:26534844, PMID:26556299, PMID:26580448, PMID:26628246, PMID:26633542, PMID:26633545, PMID:26662178, PMID:26677768, PMID:26681312, PMID:26689913, PMID:26692440, PMID:26693373, PMID:26787654, PMID:26822949, PMID:26824983, PMID:26837699, PMID:26845104, PMID:26898890, PMID:26901136, PMID:26915675, PMID:26917275, PMID:26976419, PMID:27083775, PMID:27121310, PMID:27153395, PMID:27159176, PMID:27304073, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27479817, PMID:27498913, PMID:27528516, PMID:27581129, PMID:27595995, PMID:27602502, PMID:27616075, PMID:27621404, PMID:27664052, PMID:27720647, PMID:27732944, PMID:27798748, PMID:27873105, PMID:27878467, PMID:27913932, PMID:27932211, PMID:27959900, PMID:27978560, PMID:27988859, PMID:28007021, PMID:28008555, PMID:28051113, PMID:28093192, PMID:28093616, PMID:28135145, PMID:28152038, PMID:28170084, PMID:28188106, PMID:28195393, PMID:28338653, PMID:28423363, PMID:28486781, PMID:28492532, PMID:28503720, PMID:28580595, PMID:28591191, PMID:28608266, PMID:28652578, PMID:28687356, PMID:28716242, PMID:28717660, PMID:28724667, PMID:28726808, PMID:28767289, PMID:28779002, PMID:28825054, PMID:28828701, PMID:28843361, PMID:28873162, PMID:28875981, PMID:28975465, PMID:29036293, PMID:29141312, PMID:29335925, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29415044, PMID:29470806, PMID:29478780, PMID:29522266, PMID:29555771, PMID:29566657, PMID:29596542, PMID:29600275, PMID:29664460, PMID:29667044, PMID:29678143, PMID:29684080, PMID:29719442, PMID:29752822, PMID:29753700, PMID:29888287, PMID:29909963, PMID:29922827, PMID:29945567, PMID:29946849, PMID:29954938, PMID:30067863, PMID:30086788, PMID:30128536, PMID:30197789, PMID:30214756, PMID:30256826, PMID:30287823, PMID:30303537, PMID:30311386, PMID:30363071, PMID:30374176, PMID:30426508, PMID:30447919, PMID:30504431, PMID:30549301, PMID:30607632, PMID:30620386, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30927251, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31341520, PMID:31843900, PMID:31919090, PMID:31920950, PMID:32183364, PMID:32566746, PMID:32860008 NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 RGD:9681455 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
JBrowse link
G IFNG interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G LOC100983381 protein NPAT ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr11:103,044,313...103,109,809
Ensembl chr11:106,519,614...106,584,034
JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRE11 MRE11 homolog, double strand break repair nuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder
CTD
ClinVar
PMID:8445618, PMID:8684395, PMID:9845372, PMID:10612394, PMID:11196167, PMID:11238951, PMID:11371508, PMID:12966088, PMID:14684699, PMID:14690604, PMID:15269180, PMID:16858402, PMID:19383352, PMID:20052722, PMID:20805886, PMID:21227757, PMID:22006311, PMID:22078559, PMID:22139912, PMID:22705791, PMID:22863007, PMID:23080121, PMID:23436002, PMID:23718828, PMID:23755103, PMID:23912341, PMID:24030952, PMID:24033266, PMID:24093751, PMID:24549055, PMID:24556621, PMID:24763289, PMID:24894818, PMID:25040471, PMID:25326635, PMID:25452441, PMID:25503501, PMID:25741868, PMID:26057807, PMID:26467025, PMID:26483394, PMID:26534844, PMID:26633542, PMID:26680607, PMID:26757417, PMID:26786923, PMID:26787654, PMID:26845104, PMID:26898890, PMID:27153395, PMID:27329137, PMID:27433846, PMID:27621404, PMID:27783279, PMID:27878467, PMID:28051113, PMID:28125075, PMID:28152038, PMID:28202063, PMID:28486781, PMID:28492532, PMID:28524162, PMID:28559769, PMID:28849312, PMID:28873162, PMID:29170652, PMID:29348823, PMID:29371908, PMID:29752822, PMID:29922827, PMID:30441849, PMID:32566746 NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
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 DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human) OMIM
RGD
PMID:12196655 RGD:1599207 NCBI chr 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:32488064 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
JBrowse link
ataxia with oculomotor apraxia type 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: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266, PMID:26467025, PMID:28492532 NCBI chr 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060
JBrowse link
G SETX senataxin ISO OMIM NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
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 OMIM NCBI chr17:42,686,483...42,773,668
Ensembl chr17:47,475,201...47,507,282
JBrowse link
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNKP polynucleotide kinase 3'-phosphatase ISO OMIM NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
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:8755918, PMID:8808599, PMID:9000145, PMID:9288106, PMID:9463314, PMID:9792410, PMID:9887333, PMID:10234507, PMID:10330348, PMID:11382771, PMID:11826028, PMID:11830610, PMID:14654357, PMID:15054841, PMID:15174027, PMID:16958054, PMID:17001622, PMID:18575927, PMID:18634022, PMID:19431188, PMID:19535770, PMID:19781682, PMID:19823873, PMID:21787400, PMID:21792198, PMID:22345219, PMID:22529920, PMID:23143971, PMID:24088041, PMID:24733792, PMID:25037873, PMID:25040471, PMID:25077176, PMID:25186627, PMID:25525159, PMID:25741868, PMID:25914063, PMID:25980754, PMID:26506520, PMID:26633545, PMID:26681312, PMID:27528516, PMID:27595995, PMID:27798748, PMID:27978560, PMID:27988859, PMID:28008555, PMID:28492532, PMID:28779002, PMID:29719442, PMID:30504431, PMID:30549301, PMID:30819809 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G C11H11orf65 chromosome 11 C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:8755918, PMID:8808599, PMID:9000145, PMID:9288106, PMID:9463314, PMID:9792410, PMID:9887333, PMID:10234507, PMID:10330348, PMID:11382771, PMID:11826028, PMID:11830610, PMID:14654357, PMID:15174027, PMID:16958054, PMID:17001622, PMID:18575927, PMID:18634022, PMID:19431188, PMID:19781682, PMID:19823873, PMID:21787400, PMID:21792198, PMID:22345219, PMID:22529920, PMID:23143971, PMID:24088041, PMID:24733792, PMID:25037873, PMID:25040471, PMID:25077176, PMID:25186627, PMID:25741868, PMID:25914063, PMID:25980754, PMID:26506520, PMID:26633545, PMID:26681312, PMID:27528516, PMID:27595995, PMID:27798748, PMID:27978560, PMID:27988859, PMID:28008555, PMID:28492532, PMID:28779002, PMID:29719442, PMID:30504431, PMID:30549301 NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
JBrowse link
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRE11 MRE11 homolog, double strand break repair nuclease ISO OMIM NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
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 OMIM NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
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 OMIM NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
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, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:43,255,858...43,581,466
Ensembl chr 3:44,317,708...44,555,535
JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:18414213, PMID:22036850, PMID:24164873, PMID:25741868, PMID:26467025, PMID:26640698, PMID:28492532 NCBI chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008
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 chr11:62,042,617...62,086,634
Ensembl chr11:65,365,588...65,409,207
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17159980, PMID:24033266, PMID:25843669, PMID:26467025, PMID:27782104 NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076
JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr14:70,574,066...70,662,562
Ensembl chr14:89,926,462...90,014,802
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, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:29458409 NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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 OMIM NCBI chr 3:43,255,858...43,581,466
Ensembl chr 3:44,317,708...44,555,535
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 OMIM NCBI chr 1:185,508,466...185,735,732 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: Spinocerebellar ataxia, autosomal recessive 12
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
ClinVar PMID:24369382, PMID:28492532, PMID:32214227 NCBI chr16:60,188,494...60,194,871 JBrowse link
G WWOX WW domain containing oxidoreductase ISO OMIM NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546
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 OMIM NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047
JBrowse link
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO OMIM NCBI chr11:62,042,617...62,086,634
Ensembl chr11:65,365,588...65,409,207
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 OMIM NCBI chr 3:195,088,936...195,166,771
Ensembl chr 3:204,973,968...205,034,011
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: Spinocerebellar ataxia, autosomal recessive 16 ClinVar PMID:24113144, PMID:24742043, PMID:25741868 Ensembl chr16:696,710...698,767 JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO OMIM Ensembl chr16:694,414...696,682 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 OMIM NCBI chr10:96,838,064...96,873,478
Ensembl chr10:100,319,979...100,354,599
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 OMIM NCBI chr 4:84,663,030...86,170,778
Ensembl chr 4:95,339,460...96,807,748
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 OMIM NCBI chr 1:26,359,818...26,418,910
Ensembl chr 1:27,414,937...27,475,089
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 OMIM NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569
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 OMIM NCBI chr 6:83,389,608...83,477,859
Ensembl chr 6:86,671,608...86,759,118
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 OMIM NCBI chr11:60,884,136...60,897,790
Ensembl chr11:64,218,464...64,233,413
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 OMIM NCBI chr2A:100,995,476...101,221,328 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 OMIM NCBI chr 6:24,487,551...24,505,268
Ensembl chr 6:24,819,494...24,837,189
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 OMIM NCBI chr 3:129,732,314...129,752,579
Ensembl chr 3:137,209,715...137,227,147
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 OMIM NCBI chr 6:103,997,824...104,140,931
Ensembl chr 6:107,871,208...108,013,807
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 OMIM NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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 OMIM NCBI chr 1:84,595,645...84,661,754
Ensembl chr 1:119,599,978...119,642,141
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 OMIM NCBI chr 5:153,116,528...153,127,166
Ensembl chr 5:159,737,327...159,749,242
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 OMIM NCBI chr 1:10,978,555...11,260,839
Ensembl chr 1:12,197,389...12,476,612
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 OMIM NCBI chr11:6,744,815...6,751,556
Ensembl chr11:6,427,522...6,434,222
JBrowse link
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25326637, PMID:28492532 NCBI chr21:29,361,519...29,385,610 JBrowse link
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G FBXO5 F-box protein 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:150,793,020...150,806,008
Ensembl chr 6:155,481,753...155,494,231
JBrowse link
G MTRF1L mitochondrial translational release factor 1 like ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:150,810,353...150,825,162
Ensembl chr 6:155,498,473...155,513,910
JBrowse link
G MYCT1 MYC target 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:150,515,673...150,538,481
Ensembl chr 6:155,205,805...155,228,622
JBrowse link
G RGS17 regulator of G protein signaling 17 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:150,826,838...150,953,386
Ensembl chr 6:155,521,826...155,555,151
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO OMIM NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076
JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia ClinVar PMID:24033266, PMID:25326637, PMID:25741868, PMID:28492532 NCBI chr17:17,622,318...17,625,252
Ensembl chr17:17,839,139...17,842,727
JBrowse link
G VIP vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 6:150,564,545...150,573,582
Ensembl chr 6:155,254,652...155,263,730
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100990610 cytochrome c oxidase assembly factor 7 ISO OMIM NCBI chr 1:51,946,060...51,960,364
Ensembl chr 1:53,554,945...53,566,489
JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA6 patatin like phospholipase domain containing 6 ISO OMIM NCBI chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241
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 OMIM NCBI chr19:38,854,243...38,882,034 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 OMIM NCBI chr19:2,905,615...2,953,079
Ensembl chr19:3,854,423...3,900,175
JBrowse link
cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:7581394, PMID:7668254, PMID:9425230, PMID:19129531, PMID:22280810, PMID:23566833, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr  X:143,275,165...143,295,283
Ensembl chr  X:153,162,412...153,182,424
JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602
JBrowse link
G AGA aspartylglucosaminidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:169,624,480...169,635,810
Ensembl chr 4:181,855,136...181,870,473
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271
JBrowse link
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9673985, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:24022920, PMID:24232312, PMID:24843231, PMID:25741868, PMID:25891276, PMID:26467025, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr11:22,201,694...22,295,781
Ensembl chr11:22,112,482...22,206,637
JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:23680767, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
JBrowse link
G ATCAY ATCAY kinesin light chain interacting caytaxin susceptibility ISO RGD PMID:14556008 RGD:1599348 NCBI chr19:2,905,615...2,953,079
Ensembl chr19:3,854,423...3,900,175
JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12810666, PMID:25741868, PMID:28492532 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr19:38,854,243...38,882,034 JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:67,093,675...67,231,318
Ensembl chr  X:77,255,312...77,342,756
JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:10544227, PMID:14962673, PMID:18483695, PMID:21454443, PMID:21682854, PMID:22484412, PMID:22494076, PMID:24253677, PMID:25741868, PMID:28392828, PMID:28492532, PMID:29482223, PMID:30097039, PMID:30311386 NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839
JBrowse link
G ATXN1 ataxin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:16,155,049...16,952,827
Ensembl chr 6:16,526,563...16,548,566
JBrowse link
G ATXN10 ataxin 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr22:26,556,201...26,729,098
Ensembl chr22:44,733,466...44,906,582
JBrowse link
G ATXN7 ataxin 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:63,766,480...63,906,913
Ensembl chr 3:65,194,703...65,280,879
JBrowse link
G B3GLCT beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16909395, PMID:18199743, PMID:18798333, PMID:19796186, PMID:20301637, PMID:23161355, PMID:23213277, PMID:23889335, PMID:25741868, PMID:26684045, PMID:28492532, PMID:30311386 NCBI chr13:12,475,095...12,601,818
Ensembl chr13:30,927,270...31,035,719
JBrowse link
G BBS12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:17160889, PMID:23591405, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30614526 NCBI chr 4:114,914,052...114,926,300
Ensembl chr 4:126,067,897...126,070,029
JBrowse link
G BTD biotinidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497
JBrowse link
G CA8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:56,606,454...56,702,357
Ensembl chr 8:58,273,696...58,367,615
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15173248, PMID:25741868, PMID:26467025, PMID:27066515, PMID:27400454, PMID:28492532 NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr22:17,475,693...17,618,299
Ensembl chr22:35,317,121...35,454,850
JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7611293, PMID:7635485, PMID:7762555, PMID:8554066, PMID:8803779, PMID:8940271, PMID:9708897, PMID:9864922, PMID:10328723, PMID:10338090, PMID:10364517, PMID:10807759, PMID:11230183, PMID:11359213, PMID:11434706, PMID:12552044, PMID:14722927, PMID:15146473, PMID:16375773, PMID:17072863, PMID:17540596, PMID:18201569, PMID:18805305, PMID:19819175, PMID:20506325, PMID:20567906, PMID:22069143, PMID:22267502, PMID:23592311, PMID:24033266, PMID:25516723, PMID:25741868, PMID:26750749, PMID:28492532, PMID:28583326, PMID:30311386 NCBI chr21:29,361,519...29,385,610 JBrowse link
G CCDC88C coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr14:71,897,602...72,044,242
Ensembl chr14:91,244,434...91,393,715
JBrowse link
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 9:91,519,179...91,707,469
Ensembl chr 9:119,868,015...120,055,608
JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr 1:2,485,711...2,529,745
Ensembl chr 1:3,606,659...3,648,832
JBrowse link
G CHKB choline kinase beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr22:30,825,128...30,829,203
Ensembl chr22:49,936,470...49,940,625
JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:99,282,821...99,325,404
Ensembl chr 9:127,956,915...127,982,449
JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:181,383,608...181,399,200
Ensembl chr 3:189,862,489...189,881,049
JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr10:99,519,187...99,687,138
Ensembl chr10:102,982,148...103,137,580
JBrowse link
G COG5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:99,180,197...99,543,437
Ensembl chr 7:111,934,557...112,266,513
JBrowse link
G COG7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:14,656,904...14,722,098
Ensembl chr16:23,642,068...23,706,201
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 1:149,342,301...149,375,979
Ensembl chr 1:153,045,886...153,080,461
JBrowse link
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr2A:74,428,060...74,458,574 JBrowse link
G DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:99,324,385...99,376,262
Ensembl chr 9:128,004,508...128,044,690
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:5,096,453...5,608,362
Ensembl chr 6:5,387,291...5,792,749
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:21705420, PMID:23623387, PMID:24033266, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 6:107,495,637...107,631,201
Ensembl chr 6:111,539,937...111,673,894
JBrowse link
G FMR1 FMRP translational regulator 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:136,937,889...136,976,828
Ensembl chr  X:147,365,748...147,405,321
JBrowse link
G GALC galactosylceramidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:11151421, PMID:28492532, PMID:30311386 NCBI chr14:68,545,070...68,605,730
Ensembl chr14:87,905,098...87,965,770
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:53,052,145...53,102,794
Ensembl chr 6:54,687,315...54,734,994
JBrowse link
G GCSH glycine cleavage system protein H ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532, PMID:30311386 NCBI chr16:61,688,959...61,702,364 JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:60,490,579...60,492,606
Ensembl chr  X:70,547,110...70,547,961
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799
JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532, PMID:30311386 NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959
JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:32581362 NCBI chr17:5,036,659...5,046,146
Ensembl chr17:5,024,740...5,034,216
JBrowse link
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr20:30,690,172...30,840,504
Ensembl chr20:31,852,203...31,971,945
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
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 chr 1:135,391,321...135,424,100 JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 5:109,722,916...109,862,747 JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:32581362 NCBI chr17:5,046,488...5,073,220
Ensembl chr17:5,035,014...5,061,957
JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr14:30,832,194...30,901,922
Ensembl chr14:49,132,396...49,205,993
JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:105,128,335...105,149,498
Ensembl chr 4:115,698,093...115,711,003
JBrowse link
G LOC100983419 voltage-dependent T-type calcium channel subunit alpha-1G ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr17:44,654,558...44,786,037
Ensembl chr17:49,529,402...49,595,166
Ensembl chr17:49,529,402...49,595,166
JBrowse link
G LOC100983451 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904
JBrowse link
G LOC100986229 CUGBP Elav-like family member 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:3837850, PMID:8445615, PMID:11161796, PMID:16088929, PMID:25326635, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr15:51,235,123...51,326,832 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1191367, PMID:8177735, PMID:10508514, PMID:10577905, PMID:10745042, PMID:10767337, PMID:10814718, PMID:10852707, PMID:10991688, PMID:11035019, PMID:11055878, PMID:11055898, PMID:11058114, PMID:11227330, PMID:11241840, PMID:11245712, PMID:11269512, PMID:11309679, PMID:11313756, PMID:11376998, PMID:11402105, PMID:11462237, PMID:11469283, PMID:11738866, PMID:11738879, PMID:11738885, PMID:11746022, PMID:11913567, PMID:11960578, PMID:12111643, PMID:12180070, PMID:12567420, PMID:12615169, PMID:12673788, PMID:12707946, PMID:12746406, PMID:12843318, PMID:12966523, PMID:14560307, PMID:15057977, PMID:15173251, PMID:15526954, PMID:15558314, PMID:15737703, PMID:16122633, PMID:16169931, PMID:16473305, PMID:16832102, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17341617, PMID:17351020, PMID:17387578, PMID:17986102, PMID:18332345, PMID:18337588, PMID:18414213, PMID:18562141, PMID:19652677, PMID:19722030, PMID:20031356, PMID:20301670, PMID:21154482, PMID:21160487, PMID:21831886, PMID:21954873, PMID:21982064, PMID:22277191, PMID:22368975, PMID:23260135, PMID:23262346, PMID:23421866, PMID:23810759, PMID:24399845, PMID:24458799, PMID:25741868, PMID:26175308, PMID:26418480, PMID:26467025, PMID:26647311, PMID:27354166, PMID:27929079, PMID:28492532, PMID:30311386 NCBI chr  X:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854
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, PMID:18316077, PMID:19812251, PMID:20008656, PMID:21508331, PMID:24957169, PMID:25741868, PMID:26467025, PMID:26801520, PMID:27100445, PMID:28492532, PMID:30311386 NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
G MLC1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334, PMID:23851226, PMID:25741868 NCBI chr22:30,287,928...30,316,094
Ensembl chr22:49,289,366...49,315,112
JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr19:47,169,303...47,273,815
Ensembl chr19:56,081,644...56,177,902
JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:91,514,809...91,693,044
Ensembl chr 8:93,843,617...93,877,475
JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr2B:93,363,092...93,399,326
Ensembl chr2B:211,493,021...211,528,496
JBrowse link
G NEFL neurofilament light ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12477167, PMID:12566280, PMID:19158810, PMID:21840889, PMID:25448007, PMID:25552649, PMID:25741868, PMID:25741869, PMID:26645395, PMID:27206872, PMID:28492532, PMID:30311386 NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
JBrowse link
G NEK1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:161,618,181...161,830,332
Ensembl chr 4:173,690,074...173,902,100
JBrowse link
G NKX2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr14:17,224,870...17,273,252
Ensembl chr14:35,404,127...35,626,722
JBrowse link
G NOP56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr20:2,760,689...2,766,596
Ensembl chr20:2,523,619...2,529,509
JBrowse link
G NUBPL nucleotide binding protein like ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr14:12,338,341...12,628,346 JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
JBrowse link
G OTC ornithine carbamoyltransferase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:133,304,472...133,382,664
Ensembl chr 3:140,768,319...140,849,270
JBrowse link
G PDE8B phosphodiesterase 8B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:37,874,089...38,121,322 JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928
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, PMID:10602363, PMID:10854097, PMID:10922383, PMID:11058895, PMID:11134235, PMID:11343337, PMID:11517108, PMID:11916319, PMID:15844218, PMID:17166182, PMID:19357119, PMID:20301289, PMID:21541725, PMID:24033266, PMID:24498599, PMID:25355454, PMID:25741868, PMID:26014514, PMID:26488408, PMID:26805780, PMID:28373276, PMID:28425223, PMID:28492532, PMID:28940310, PMID:30740725, PMID:32581362, PMID:32860008 NCBI chr16:7,731,266...7,782,871
Ensembl chr16:8,971,692...9,020,406
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G POLR3B RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr12:103,936,650...104,083,470
Ensembl chr12:107,330,306...107,477,279
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12369018, PMID:16575835, PMID:17559086, PMID:18640039, PMID:18752264, PMID:19299310, PMID:22323514, PMID:23757202, PMID:24304607, PMID:24491487, PMID:25741868, PMID:26467025, PMID:28182637, PMID:28492532, PMID:30311386, PMID:32860008 NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
JBrowse link
G PRKCG protein kinase C gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr19:50,823,372...50,849,003
Ensembl chr19:59,672,097...59,695,977
JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr19:37,442,299...37,461,844
Ensembl chr19:45,952,420...45,971,987
JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:27129381, PMID:28328138 NCBI chr17:53,763,222...53,773,191
Ensembl chr17:58,605,850...58,615,809
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:119,298,428...119,311,625
Ensembl chr  X:129,591,222...129,605,214
JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr17:33,484,543...33,614,608
Ensembl chr17:38,431,946...38,461,861
JBrowse link
G RELN reelin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037
JBrowse link
G RFC1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr 4:33,618,590...33,695,999
Ensembl chr 4:39,471,719...39,548,548
JBrowse link
G RPGRIP1L RPGRIP1 like ISO associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
JBrowse link
G RPL27A ribosomal protein L27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr11:8,807,139...8,810,192 JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia
CTD
ClinVar
PMID:16236810, PMID:25741868 NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr 4:19,517,552...19,558,454
Ensembl chr 4:24,802,260...24,842,816
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:26467025 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr15:27,155,331...27,252,995
Ensembl chr15:45,479,583...45,577,084
JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:41,663,200...41,786,314
Ensembl chr 8:39,109,265...39,162,456
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
JBrowse link
G SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:152,882,563...152,910,434
Ensembl chr 3:160,933,258...160,961,723
JBrowse link
G SLC6A19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:1,489,845...1,513,146
Ensembl chr 5:1,248,802...1,272,508
JBrowse link
G SNX14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25848753 NCBI chr 6:83,389,608...83,477,859
Ensembl chr 6:86,671,608...86,759,118
JBrowse link
G SPART spartin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:25741868 NCBI chr13:17,514,720...17,582,011
Ensembl chr13:35,945,938...35,989,774
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:62,042,617...62,086,634
Ensembl chr11:65,365,588...65,409,207
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr14:58,066,123...58,170,472
Ensembl chr14:77,266,545...77,370,663
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:nonsense, missense mutations:introns,exons:
ClinVar Annotator: match by term: Cerebellar ataxia
RGD
ClinVar
PMID:17503513, PMID:26467025, PMID:28492532, PMID:30311386 RGD:13209009 NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076
JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:32,999,408...33,033,067
Ensembl chr 6:34,110,652...34,144,490
JBrowse link
G TDP2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 6:24,487,551...24,505,268
Ensembl chr 6:24,819,494...24,837,189
JBrowse link
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr20:2,509,000...2,543,650
Ensembl chr20:2,259,725...2,306,743
JBrowse link
G TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433
JBrowse link
G TMEM70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:18953340, PMID:20937241, PMID:21815885, PMID:22433607, PMID:24485043, PMID:25741868, PMID:26550569, PMID:28492532, PMID:30311386 NCBI chr 8:70,509,897...70,515,605
Ensembl chr 8:72,154,872...72,163,239
JBrowse link
G TRIP12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr2B:117,013,343...117,175,296
Ensembl chr2B:235,820,182...235,979,780
JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr17:69,465,488...69,474,667
Ensembl chr17:75,017,351...75,025,166
JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 9:47,424,921...47,668,150
Ensembl chr 9:76,032,286...76,269,636
JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:17436253, PMID:29681091, PMID:30311386 NCBI chr  X:118,932,986...118,973,238
Ensembl chr  X:129,230,571...129,270,665
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:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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:11431686, PMID:11571332, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:12975295, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16919951, PMID:16940310, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20601675, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20883824, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21550804, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22000311, PMID:22006280, PMID:22189570, PMID:22342071, PMID:22494076, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22863191, PMID:22931735, PMID:22987704, PMID:22995991, PMID:23084792, PMID:23212759, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23665194, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24288107, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25585994, PMID:25660390, PMID:25741868, PMID:25914719, PMID:25940035, PMID:26095671, PMID:26104464, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27538604, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28284481, PMID:28337550, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:29029963, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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 OMIM NCBI chr 4:114,079,395...114,153,014
Ensembl chr 4:125,217,086...125,289,014
JBrowse link
cerebellar ataxia type 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100983419 voltage-dependent T-type calcium channel subunit alpha-1G ISO OMIM NCBI chr17:44,654,558...44,786,037
Ensembl chr17:49,529,402...49,595,166
Ensembl chr17:49,529,402...49,595,166
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 OMIM NCBI chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119
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 OMIM NCBI chr 1:30,205,584...30,341,979
Ensembl chr 1:31,230,268...31,364,348
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:30381368 Ensembl chr16:696,710...698,767 JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO OMIM Ensembl chr16:694,414...696,682 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 ATP8A2 ATPase phospholipid transporting 8A2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysequilibrium syndrome
CTD
ClinVar
PMID:25741868 NCBI chr13:6,663,888...7,319,094
Ensembl chr13:25,111,653...25,662,668
JBrowse link
G VLDLR very low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysequilibrium syndrome
CTD
ClinVar
PMID:18326629, PMID:18364738, PMID:25741868 NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
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 OMIM NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
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 OMIM NCBI chr17:1,708,119...1,722,405
Ensembl chr17:1,594,162...1,616,138
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 OMIM NCBI chr 8:56,606,454...56,702,357
Ensembl chr 8:58,273,696...58,367,615
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP8A2 ATPase phospholipid transporting 8A2 ISO OMIM NCBI chr13:6,663,888...7,319,094
Ensembl chr13:25,111,653...25,662,668
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 NCBI chr 4:131,420,985...131,540,691
Ensembl chr 4:142,731,593...142,850,778
JBrowse link
G RFC1 replication factor C subunit 1 ISO OMIM NCBI chr 4:33,618,590...33,695,999
Ensembl chr 4:39,471,719...39,548,548
JBrowse link
Cerebellar Hypoplasia with Endosteal Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3B RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Cerebellar hypoplasia with endosteal sclerosis ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr12:103,936,650...104,083,470
Ensembl chr12:107,330,306...107,477,279
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 OMIM NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465
JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SACS sacsin molecular chaperone ISO OMIM NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350
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 OMIM NCBI chr13:76,853,053...76,963,530
Ensembl chr13:96,033,605...96,114,165
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 NCBI chr 1:64,501,805...64,662,999
Ensembl chr 1:66,399,968...66,550,879
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 OMIM NCBI chr10:13,643,371...14,331,368
Ensembl chr10:13,975,845...14,192,399
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 OMIM NCBI chr12:7,057,430...7,071,767
Ensembl chr12:6,978,576...6,990,580
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 OMIM NCBI chr2B:39,137,777...39,399,007 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 OMIM NCBI chr 5:73,679,841...73,761,591
Ensembl chr 5:78,960,797...79,042,694
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 OMIM NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXN frataxin ISO DNA:repeat:intron:GAA (human)
ClinVar Annotator: match by term: Friedreich's ataxia
CTD Direct Evidence: marker/mechanism
DNA:point mutation:exon:p.G130V
RGD
ClinVar
CTD
PMID:8596916, PMID:9150176, PMID:9700204, PMID:9737785, PMID:9989622, PMID:10543403, PMID:10732799, PMID:11020385, PMID:11030757, PMID:11843702, PMID:12019217, PMID:12923074, PMID:16120311, PMID:16239244, PMID:16911956, PMID:17101455, PMID:17331979, PMID:17703324, PMID:18537827, PMID:19494730, PMID:19629184, PMID:20098685, PMID:21298097, PMID:22016819, PMID:23418481, PMID:26339677, PMID:26467025, PMID:26704351, PMID:26954031, PMID:28812047, PMID:29272104, PMID:30451920 RGD:1582636, RGD:1598961 NCBI chr 9:55,690,483...55,754,755
Ensembl chr 9:67,800,579...67,866,031
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 OMIM NCBI chr 9:55,690,483...55,754,755
Ensembl chr 9:67,800,579...67,866,031
JBrowse link
Gillespie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO OMIM NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
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 OMIM NCBI chr 7:5,872,118...6,037,073
Ensembl chr 7:5,891,909...6,051,979
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 OMIM NCBI chr13:29,383,318...29,412,018 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 susceptibility
treatment
ISO OMIM
RGD
PMID:7874163, PMID:20308049 RGD:11557997, RGD:1599419 NCBI chr14:72,693,446...72,741,772 JBrowse link
G BECN1 beclin 1 ISO protein:decreased expression:brain RGD PMID:21478185 RGD:6483072 NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:21743141 RGD:5508762 NCBI chr21:33,063,845...33,070,073 JBrowse link
G SLC18A2 solute carrier family 18 member A2 ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr10:113,823,005...113,862,451
Ensembl chr10:117,250,639...117,290,064
JBrowse link
G TH tyrosine hydroxylase ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433
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-Sjögren syndrome ClinVar PMID:10665502, PMID:12692552, PMID:16282977, PMID:16282978, PMID:17026626, PMID:17309654, PMID:18285827, PMID:19471582, PMID:20111056, PMID:23062754, PMID:24176978, PMID:24631270, PMID:25741868, PMID:26467025, PMID:26733775, PMID:28492532 NCBI chr 5:134,325,451...134,573,398
Ensembl chr 5:140,450,891...140,628,703
JBrowse link
mitochondrial DNA depletion syndrome 7 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: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G TWNK twinkle mtDNA helicase ISO OMIM NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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 OMIM NCBI chr 7:85,086,661...85,104,983 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 ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:11,468,087...11,480,718 JBrowse link
G AADACL4 arylacetamide deacetylase like 4 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:11,396,544...11,419,064 JBrowse link
G C1H1orf158 chromosome 1 C1orf158 homolog ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:11,498,043...11,513,576
Ensembl chr 1:12,711,179...12,726,105
JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 ISO OMIM NCBI chr 1:5,549,742...6,532,568
Ensembl chr 1:6,824,687...7,781,265
JBrowse link
G DHRS3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:11,319,109...11,370,463
Ensembl chr 1:12,533,696...12,584,381
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
G MIIP migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:10,770,412...10,783,414
Ensembl chr 1:11,986,808...11,999,330
JBrowse link
G NID1 nidogen 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:211,543,294...211,631,769
Ensembl chr 1:216,544,829...216,632,935
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308
JBrowse link
G PRAMEF12 PRAME family member 12 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:11,525,455...11,529,625 JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251
JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:26,359,818...26,418,910
Ensembl chr 1:27,414,937...27,475,089
JBrowse link
G SMYD3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:221,371,348...222,125,774
Ensembl chr 1:226,737,960...227,481,191
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495
JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:10,978,555...11,260,839
Ensembl chr 1:12,197,389...12,476,612
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 chr 1:202,448,571...202,780,486
Ensembl chr 1:207,438,330...207,766,907
JBrowse link
G COQ8A coenzyme Q8A ISO OMIM NCBI chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008
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 IFT140 intraflagellar transport 140 ISO OMIM NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884
JBrowse link
G PTX4 pentraxin 4 ISO ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia ClinVar PMID:28492532, PMID:29688594 NCBI chr16:105,005...113,730
Ensembl chr16:1,540,411...1,543,413
JBrowse link
G TELO2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia ClinVar PMID:28492532, PMID:29688594 NCBI chr16:112,856...130,175
Ensembl chr16:1,548,212...1,566,337
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) RGD PMID:22022284 RGD:11532672 NCBI chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400
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 chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:30311386 NCBI chr 9:104,180,310...104,191,434 JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371
JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr17:5,036,659...5,046,146
Ensembl chr17:5,024,740...5,034,216
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:73,391,297...74,158,488
Ensembl chr10:76,062,047...76,820,644
JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr17:5,046,488...5,073,220
Ensembl chr17:5,035,014...5,061,957
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:17564970, PMID:19177532, PMID:19201763, PMID:21990111, PMID:25439737, PMID:28492532, PMID:30311386 NCBI chr 4:120,087,477...120,137,550
Ensembl chr 4:131,391,361...131,439,590
JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant ClinVar PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr12:6,582,266...6,592,762
Ensembl chr12:6,499,429...6,509,844
JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO OMIM NCBI chr12:6,592,688...6,601,317
Ensembl chr12:6,509,762...6,518,459
JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C17H17orf107 chromosome 17 C17orf107 homolog ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,945,885...4,947,235
Ensembl chr17:4,934,173...4,935,528
JBrowse link
G CAMTA2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:5,016,065...5,036,216
Ensembl chr17:5,004,607...5,024,238
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,944,046...4,950,288
Ensembl chr17:4,932,862...4,937,963
JBrowse link
G ENO3 enolase 3 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,997,052...5,005,221
Ensembl chr17:4,986,116...4,992,876
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,980,083...4,983,219 JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:28492532, PMID:28832565 NCBI chr17:5,036,659...5,046,146
Ensembl chr17:5,024,740...5,034,216
JBrowse link
G KIF1C kinesin family member 1C ISO OMIM NCBI chr17:5,046,488...5,073,220
Ensembl chr17:5,035,014...5,061,957
JBrowse link
G PFN1 profilin 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,993,853...4,996,811 JBrowse link
G RNF167 ring finger protein 167 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,988,275...4,993,423
Ensembl chr17:4,975,849...4,981,335
JBrowse link
G SLC25A11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,985,477...4,988,348
Ensembl chr17:4,973,000...4,975,878
JBrowse link
G SPAG7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:5,007,303...5,016,018
Ensembl chr17:4,994,957...5,003,894
JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARS2 methionyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chr2B:84,954,833...84,957,871
Ensembl chr2B:202,847,478...202,849,259
JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471, PMID:21450511, PMID:24033266, PMID:24180463 NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
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 OMIM NCBI chr10:30,463,414...30,500,245
Ensembl chr10:30,818,599...30,854,542
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 OMIM NCBI chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400
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 OMIM Ensembl chr10:133,682,456...133,683,445 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 chr15:20,172,874...20,223,382
Ensembl chr15:38,418,815...38,467,681
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 LOC100983419 voltage-dependent T-type calcium channel subunit alpha-1G ISO OMIM NCBI chr17:44,654,558...44,786,037
Ensembl chr17:49,529,402...49,595,166
Ensembl chr17:49,529,402...49,595,166
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 OMIM NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047
JBrowse link
spinocerebellar ataxia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAT2 FAT atypical cadherin 2 ISO OMIM NCBI chr 5:146,927,558...147,014,920
Ensembl chr 5:152,932,400...152,995,784
JBrowse link
G SLC36A1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 45 ClinVar PMID:20301317, PMID:25741868, PMID:29053796, PMID:29847346 NCBI chr 5:146,870,427...147,080,893
Ensembl chr 5:152,874,114...152,919,034
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 OMIM NCBI chr19:37,396,475...37,426,425
Ensembl chr19:45,910,035...45,939,343
JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 46 ClinVar PMID:24011642, PMID:25741868 NCBI chr19:37,442,299...37,461,844
Ensembl chr19:45,952,420...45,971,987
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 OMIM NCBI chr 6:16,155,049...16,952,827
Ensembl chr 6:16,526,563...16,548,566
JBrowse link
spinocerebellar ataxia type 1 with axonal neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TDP1 tyrosyl-DNA phosphodiesterase 1 ISO OMIM NCBI chr14:70,574,066...70,662,562
Ensembl chr14:89,926,462...90,014,802
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 OMIM NCBI chr22:26,556,201...26,729,098
Ensembl chr22:44,733,466...44,906,582
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 OMIM NCBI chr15:21,699,674...21,877,481 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 OMIM NCBI chr 5:142,037,831...142,521,655
Ensembl chr 5:148,050,581...148,533,329
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 OMIM NCBI chr19:47,275,213...47,296,809 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 OMIM NCBI chr19:50,823,372...50,849,003
Ensembl chr19:59,672,097...59,695,977
JBrowse link
spinocerebellar ataxia type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO OMIM NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
JBrowse link
G LOC100986203 histone-lysine N-methyltransferase SETMAR ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 15 ClinVar PMID:17932120, PMID:20669319, PMID:21681106 NCBI chr 3:4,256,539...4,271,593
Ensembl chr 3:4,357,890...4,371,791
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 chr12:32,264,570...32,272,419
Ensembl chr12:32,519,749...32,527,753
JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773
JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr11:113,882,418...113,895,438
Ensembl chr11:117,812,975...117,824,005
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr17:76,248,252...76,266,152
Ensembl chr17:81,950,422...81,968,109
JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr15:22,706,520...22,731,672
Ensembl chr15:40,794,144...40,821,763
JBrowse link
G TBP TATA-box binding protein ISO OMIM NCBI chr 6:168,714,214...168,732,744
Ensembl chr 6:173,800,240...173,826,909
JBrowse link
spinocerebellar ataxia type 19/22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCND3 potassium voltage-gated channel subfamily D member 3 ISO OMIM NCBI chr 1:114,433,203...114,651,894
Ensembl chr 1:125,696,907...125,909,814
JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 19 ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273
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 ISO OMIM NCBI chr12:109,024,620...109,174,135
Ensembl chr12:112,419,337...112,566,360
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 21 ClinVar PMID:26581903, PMID:30531813 NCBI chr11:60,884,136...60,897,790
Ensembl chr11:64,218,464...64,233,413
JBrowse link
G TMEM240 transmembrane protein 240 ISO OMIM NCBI chr 1:295,102...301,161
Ensembl chr 1:1,456,731...1,462,005
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 OMIM NCBI chr20:2,092,171...2,108,141
Ensembl chr20:1,856,850...1,872,452
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 OMIM NCBI chr19:3,000,608...3,009,918
Ensembl chr19:3,950,772...3,960,172
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 OMIM NCBI chr13:82,869,491...83,563,099 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 OMIM NCBI chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400
JBrowse link
G TUBB6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 ClinVar PMID:28492532 NCBI chr18:1,998,428...2,020,202 JBrowse link
spinocerebellar ataxia type 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHI1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:16453322, PMID:21623382, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 6:133,055,026...133,273,591
Ensembl chr 6:137,156,237...137,361,232
JBrowse link
G ATOH1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:86,188,534...86,191,301
Ensembl chr 4:96,863,762...96,864,832
JBrowse link
G B9D1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:24886560, PMID:26092869 NCBI chr17:31,735,065...31,779,454
Ensembl chr17:36,914,969...36,941,391
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:18950740, PMID:19777577, PMID:22241855, PMID:22425360, PMID:23012439, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26477546, PMID:26485645, PMID:27081510, PMID:27082236, PMID:28492532, PMID:30311386 NCBI chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:16909394, PMID:17345604, PMID:17564967, PMID:17564974, PMID:17705300, PMID:17964524, PMID:19466712, PMID:19764032, PMID:20079931, PMID:20683928, PMID:20690115, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23559409, PMID:24265693, PMID:24850569, PMID:25377065, PMID:25741868, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26673778, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28559085, PMID:28829391, PMID:29398085, PMID:30311386 NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 5:73,122,305...73,265,343
Ensembl chr 5:78,402,466...78,544,807
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO OMIM NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:17185389, PMID:17397051, PMID:23351400, PMID:28492532 NCBI chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:6,296,597...6,376,197
Ensembl chr  X:13,611,304...13,664,512
JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:17558409, PMID:19430481, PMID:25741868, PMID:28492532 NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
JBrowse link
G TMEM216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:20036350, PMID:20301500, PMID:20512146, PMID:22282472, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26673778, PMID:28492532, PMID:28497568 NCBI chr11:56,691,461...56,698,723
Ensembl chr11:60,055,400...60,062,051
JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:9375913, PMID:10508989, PMID:17377820, PMID:17397051, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26729329, PMID:27491411, PMID:28431631, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437
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 OMIM NCBI chr16:46,745,246...46,813,376
Ensembl chr16:65,857,543...65,913,340
JBrowse link
G PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 16q22-linked ClinVar PMID:16001362, PMID:16614795, PMID:16780885 NCBI chr16:47,623,234...47,634,704
Ensembl chr16:67,013,926...67,023,917
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 OMIM NCBI chr 6:77,798,058...77,830,840
Ensembl chr 6:81,068,882...81,102,050
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 OMIM NCBI chr20:2,509,000...2,543,650
Ensembl chr20:2,259,725...2,306,743
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 OMIM NCBI chr20:2,760,689...2,766,596
Ensembl chr20:2,523,619...2,529,509
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 OMIM NCBI chr 1:56,279,089...57,529,881
Ensembl chr 1:58,005,136...58,286,708
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 OMIM NCBI chr 6:52,822,038...52,902,122
Ensembl chr 6:54,451,887...54,485,878
JBrowse link
spinocerebellar ataxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 ISO OMIM NCBI chr16:47,623,234...47,634,704
Ensembl chr16:67,013,926...67,023,917
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 OMIM NCBI chr14:71,897,602...72,044,242
Ensembl chr14:91,244,434...91,393,715
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 OMIM NCBI chr11:62,042,617...62,086,634
Ensembl chr11:65,365,588...65,409,207
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 OMIM NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
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 OMIM NCBI chr 3:63,766,480...63,906,913
Ensembl chr 3:65,194,703...65,280,879
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: Myoclonic epilepsy myopathy sensory ataxia ClinVar PMID:632821, PMID:1582434, PMID:11431686, PMID:11571332, PMID:12565911, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15477547, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16080118, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16545482, PMID:16621917, PMID:16638794, PMID:16639411, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17894835, PMID:18294203, PMID:18321754, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19125351, PMID:19251978, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19752458, PMID:19766516, PMID:19813183, PMID:20138553, PMID:20142534, PMID:20153822, PMID:20301791, PMID:20438629, PMID:20576279, PMID:20691285, PMID:20818383, PMID:20837861, PMID:21235791, PMID:21236670, PMID:21276947, PMID:21357833, PMID:21455106, PMID:21515089, PMID:21647632, PMID:21686371, PMID:21880868, PMID:21956653, PMID:21993618, PMID:22006280, PMID:22166854, PMID:22189570, PMID:22342071, PMID:22616202, PMID:22711370, PMID:22931735, PMID:22995991, PMID:23212759, PMID:23248042, PMID:23250882, PMID:23430834, PMID:23448099, PMID:23783014, PMID:23804100, PMID:23808377, PMID:24033266, PMID:24122062, PMID:24272679, PMID:24725338, PMID:24841123, PMID:25025039, PMID:25065347, PMID:25281868, PMID:25286830, PMID:25585994, PMID:25713120, PMID:25741868, PMID:26077851, PMID:26104464, PMID:26467025, PMID:26607151, PMID:26735972, PMID:26755490, PMID:26942291, PMID:26942292, PMID:27290639, PMID:27345795, PMID:27422324, PMID:27822509, PMID:27838477, PMID:27987238, PMID:28130605, PMID:28206745, PMID:28471437, PMID:28480171, PMID:28492532, PMID:28634151, PMID:28771251, PMID:28812649, PMID:28837072, PMID:28865037, PMID:29272804, PMID:29358615, PMID:29423831, PMID:29474836, PMID:29574624, PMID:29588995, PMID:29712893, PMID:29920680, PMID:30021052, PMID:30311386 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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 DNA:missense mutation: :p.I400M (human) OMIM
RGD
PMID:10196363 RGD:1598600 NCBI chr  X:64,304,101...64,407,310
Ensembl chr  X:74,418,754...74,521,726
JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar NCBI chr  X:47,219,588...47,241,592
Ensembl chr  X:55,451,794...55,473,680
JBrowse link
G PAGE2B PAGE family member 2B ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chr  X:47,240,021...47,346,837 JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic ClinVar NCBI chr 3:39,287,934...39,301,810
Ensembl chr 3:39,567,737...39,581,957
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 chr  X:64,304,101...64,407,310
Ensembl chr  X:74,418,754...74,521,726
JBrowse link
G AMER1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:53,309,868...53,331,151
Ensembl chr  X:63,396,392...63,399,802
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO OMIM NCBI chr  X:143,068,171...143,133,479
Ensembl chr  X:152,955,109...153,019,445
JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:67,093,675...67,231,318
Ensembl chr  X:77,255,312...77,342,756
JBrowse link
G NHSL2 NHS like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:61,148,722...61,390,360
Ensembl chr  X:71,234,979...71,465,693
JBrowse link
G PGAM4 phosphoglycerate mutase family member 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:67,148,926...67,150,605 JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:61,816,613...61,949,179
Ensembl chr  X:71,900,762...72,033,055
JBrowse link
G RTL9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:99,526,920...99,564,132
Ensembl chr  X:110,028,354...110,034,137
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12751
    disease of anatomical entity 12281
      nervous system disease 10042
        neurodegenerative disease 2981
          primary cerebellar degeneration 301
            Spinocerebellar Ataxias 279
              Boucher-Neuhauser syndrome 1
              Gemignani Syndrome 0
              Machado-Joseph disease 5
              Spinocerebellar Ataxia and Plaque-Like Deposits 0
              Spinocerebellar Ataxia with Dysmorphism 0
              Spinocerebellar Ataxia with Epilepsy 1
              Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 0
              X-linked sideroblastic anemia with ataxia 4
              X-linked spinocerebellar ataxia 1 8
              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 + 241
              spastic ataxia + 25
Path 2
Term Annotations click to browse term
  disease 12751
    disease of anatomical entity 12281
      nervous system disease 10042
        central nervous system disease 8491
          brain disease 7869
            movement disease 1065
              Dyskinesias 804
                Ataxia 362
                  Spinocerebellar Ataxias 279
                    Boucher-Neuhauser syndrome 1
                    Gemignani Syndrome 0
                    Machado-Joseph disease 5
                    Spinocerebellar Ataxia and Plaque-Like Deposits 0
                    Spinocerebellar Ataxia with Dysmorphism 0
                    Spinocerebellar Ataxia with Epilepsy 1
                    Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 0
                    X-linked sideroblastic anemia with ataxia 4
                    X-linked spinocerebellar ataxia 1 8
                    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 + 241
                    spastic ataxia + 25
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.