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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 chr 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472
JBrowse link
G ANO10 anoctamin 10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr23:2,678,659...2,900,490
Ensembl chr23:2,678,615...2,902,431
JBrowse link
G ATXN1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11719269, PMID:16122429, PMID:17322884, PMID:18337722 NCBI chr35:15,458,498...15,863,829
Ensembl chr35:15,452,135...15,649,747
JBrowse link
G ATXN10 ataxin 10 susceptibility ISO DNA:repeat:intron 9 RGD PMID:11017075 RGD:1599410 NCBI chr10:20,277,339...20,440,749
Ensembl chr10:20,257,974...20,440,704
JBrowse link
G ATXN1L ataxin 1 like ISO CTD Direct Evidence: therapeutic CTD PMID:17322884 NCBI chr 5:77,616,484...77,627,411
Ensembl chr 5:77,619,861...77,621,924
JBrowse link
G ATXN2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19224595, PMID:20065139 NCBI chr26:9,073,667...9,188,429
Ensembl chr26:9,073,809...9,188,414
JBrowse link
G ATXN7 ataxin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25664129 NCBI chr20:27,226,957...27,335,327
Ensembl chr20:27,224,375...27,333,445
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 chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:26,481,148...26,544,511
Ensembl chr 9:26,481,652...26,544,845
JBrowse link
G CAPN1 calpain 1 IEA Ataxia, spinocerebellar, CAPN1-related OMIA PMID:2061870, PMID:4747697, PMID:15320590, PMID:22634896, PMID:22872628, PMID:23741357, PMID:24736825, PMID:24736826, PMID:27259058, PMID:27320912 NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757
JBrowse link
G CASP7 caspase 7 ISO RGD PMID:17646170 RGD:5684537 NCBI chr28:24,599,866...24,630,018
Ensembl chr28:24,599,493...24,628,668
JBrowse link
G CCDC88C coiled-coil domain containing 88C ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:62,123,934...62,245,485
Ensembl chr 8:62,143,029...62,245,491
JBrowse link
G CIC capicua transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18337722 NCBI chr 1:112,081,775...112,105,093
Ensembl chr 1:112,082,265...112,105,082
JBrowse link
G CWF19L1 CWF19 like 1, cell cycle control ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr28:13,003,948...13,033,369
Ensembl chr28:13,003,987...13,033,281
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 chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825
JBrowse link
G ELOVL5 ELOVL fatty acid elongase 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:20,732,641...20,807,748
Ensembl chr12:20,734,282...20,807,739
JBrowse link
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar NCBI chr22:51,379,799...51,983,662
Ensembl chr22:51,380,788...51,982,849
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16122429 NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422
JBrowse link
G GRID2 glutamate ionotropic receptor delta type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr32:15,322,256...16,787,966
Ensembl chr32:15,322,738...16,753,656
JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:37,205,817...37,600,048
Ensembl chr 1:37,206,542...37,598,134
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 chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198
JBrowse link
G KAT2A lysine acetyltransferase 2A ISO protein:increased expression:retina (mouse) RGD PMID:15932940 RGD:9590239 NCBI chr 9:20,778,434...20,787,057
Ensembl chr 9:20,779,042...20,787,067
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 chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870
JBrowse link
G MME membrane metalloendopeptidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919
JBrowse link
G NOP56 NOP56 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr24:18,561,407...18,566,770
Ensembl chr24:18,561,408...18,566,719
JBrowse link
G OPTN optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511
JBrowse link
G PDYN prodynorphin ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar NCBI chr24:19,043,955...19,057,413
Ensembl chr24:19,053,870...19,056,364
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 chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta ISO CTD Direct Evidence: marker/mechanism
DNA:repeat, SNPs, haplotype:multiple
CTD
RGD
PMID:18940801, PMID:20629122 RGD:5686297 NCBI chr 2:41,005,259...41,447,048
Ensembl chr 2:41,005,644...41,459,878
JBrowse link
G PRKCG protein kinase C gamma ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
DNA:missense mutations:cds: (human)
CTD
ClinVar
RGD
PMID:12644968, PMID:20398063 RGD:737790 NCBI chr 1:103,295,110...103,312,562 JBrowse link
G RBM17 RNA binding motif protein 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18337722 NCBI chr 2:29,828,720...29,853,922
Ensembl chr 2:29,829,210...29,853,841
JBrowse link
G RUBCN rubicon autophagy regulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr33:28,947,439...29,011,737
Ensembl chr33:28,946,944...29,009,346
JBrowse link
G SCYL1 SCY1 like pseudokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:51,667,647...51,680,904
Ensembl chr18:51,667,790...51,681,090
JBrowse link
G SNX14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:45,526,042...45,598,868
Ensembl chr12:45,518,721...45,599,012
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 chr18:50,631,053...50,670,428
Ensembl chr18:50,631,909...50,669,916
JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:39,893,492...39,895,385
Ensembl chr 6:39,893,670...39,897,573
JBrowse link
G SYT14 synaptotagmin 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:8,612,458...8,795,812
Ensembl chr 7:8,598,392...8,786,739
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 chr12:72,458,959...72,479,271
Ensembl chr12:72,459,041...72,479,124
JBrowse link
G TDP2 tyrosyl-DNA phosphodiesterase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr35:22,693,203...22,707,054
Ensembl chr35:22,693,110...22,707,008
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 chr24:18,698,016...18,721,975
Ensembl chr24:18,700,099...18,721,930
JBrowse link
G TRPC3 transient receptor potential cation channel subfamily C member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:18,207,565...18,272,551
Ensembl chr19:18,207,417...18,271,828
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 chr30:9,674,911...9,844,860
Ensembl chr30:9,676,828...9,844,838
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 chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr23:29,645,755...29,658,587
Ensembl chr23:29,645,966...29,659,019
JBrowse link
G VWA3B von Willebrand factor A domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:44,279,047...44,508,129
Ensembl chr10:44,305,262...44,508,139
JBrowse link
G WWOX WW domain containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO OMIM NCBI chr34:14,199,507...14,204,736
Ensembl chr34:14,199,675...14,204,687
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 chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812
JBrowse link
G ATM ATM serine/threonine kinase ISO OMIM NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr12:2,950,359...2,957,604
Ensembl chr12:2,948,364...2,957,018
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 chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BIK BCL2 interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr10:22,417,374...22,433,055 JBrowse link
G C5H11orf65 chromosome 5 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 chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291
JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 RGD:9681455 NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478
JBrowse link
G IFNG interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G NPAT nuclear protein, coactivator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 5:24,297,419...24,360,461
Ensembl chr 5:24,296,653...24,346,935
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 chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119
JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992
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 chr11:50,111,003...50,155,937
Ensembl chr11:50,113,073...50,132,284
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 chr 1:106,695,649...106,707,229
Ensembl chr 1:106,694,589...106,702,150
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:32488064 NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833
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 chr11:50,111,003...50,155,937
Ensembl chr11:50,113,073...50,132,284
JBrowse link
G SETX senataxin ISO OMIM NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833
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 chr 5:33,538,354...33,604,984
Ensembl chr 5:33,532,708...33,604,984
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 chr 1:106,695,649...106,707,229
Ensembl chr 1:106,694,589...106,702,150
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 chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G C5H11orf65 chromosome 5 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 chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291
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 chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119
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 chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992
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 chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
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 chr23:2,678,659...2,900,490
Ensembl chr23:2,678,615...2,902,431
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 7:38,085,441...38,123,037
Ensembl chr 7:38,085,885...38,122,974
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 chr18:50,631,053...50,670,428
Ensembl chr18:50,631,909...50,669,916
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 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388
JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr 8:61,023,564...61,107,599
Ensembl chr 8:61,024,084...61,107,506
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 chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044
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 chr23:2,678,659...2,900,490
Ensembl chr23:2,678,615...2,902,431
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 7:8,612,458...8,795,812
Ensembl chr 7:8,598,392...8,786,739
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 chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735
JBrowse link
G WWOX WW domain containing oxidoreductase ISO OMIM NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406
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 1:37,205,817...37,600,048
Ensembl chr 1:37,206,542...37,598,134
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
IEA
Ataxia, spinocerebellar, SPTBN2-related OMIM
OMIA
PMID:22781464 NCBI chr18:50,631,053...50,670,428
Ensembl chr18:50,631,909...50,669,916
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 chr33:28,947,439...29,011,737
Ensembl chr33:28,946,944...29,009,346
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 NCBI chr 6:39,891,930...39,894,549
Ensembl chr 6:39,891,926...39,927,919
JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO OMIM NCBI chr 6:39,893,492...39,895,385
Ensembl chr 6:39,893,670...39,897,573
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 1, cell cycle control ISO OMIM NCBI chr28:13,003,948...13,033,369
Ensembl chr28:13,003,987...13,033,281
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 chr32:15,322,256...16,787,966
Ensembl chr32:15,322,738...16,753,656
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 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364
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 9:49,073,124...49,083,302
Ensembl chr 9:49,073,108...49,224,961
JBrowse link
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 20 ClinVar NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322
JBrowse link
G SNX14 sorting nexin 14 IEA
ISO
Cerebellar cortical degeneration, Hungarian Vizsla OMIA
OMIM
PMID:27566131 NCBI chr12:45,526,042...45,598,868
Ensembl chr12:45,518,721...45,599,012
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 chr18:51,667,647...51,680,904
Ensembl chr18:51,667,790...51,681,090
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 chr10:44,279,047...44,508,129
Ensembl chr10:44,305,262...44,508,139
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 chr35:22,693,203...22,707,054
Ensembl chr35:22,693,110...22,707,008
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 chr23:29,645,755...29,658,587
Ensembl chr23:29,645,966...29,659,019
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 chr12:63,565,859...63,692,383
Ensembl chr12:63,567,568...63,683,485
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 chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816
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 chr17:55,143,495...55,225,016
Ensembl chr17:55,164,559...55,216,645
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 4:52,548,481...52,587,582
Ensembl chr 4:52,549,741...52,561,754
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 2:83,898,620...84,132,453
Ensembl chr 2:83,901,018...84,132,529
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 chr21:29,921,764...29,926,974
Ensembl chr21:29,921,764...29,926,986
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 chr31:37,230,900...37,247,170 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 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G FBXO5 F-box protein 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:43,138,338...43,149,546
Ensembl chr 1:43,138,889...43,149,297
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 1:43,155,285...43,166,707
Ensembl chr 1:43,155,419...43,166,691
JBrowse link
G MYCT1 MYC target 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,886,997...42,908,813
Ensembl chr 1:42,830,099...42,925,680
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 1:43,170,815...43,264,277
Ensembl chr 1:43,174,861...43,264,233
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO OMIM NCBI chr 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388
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 chr 9:22,811,792...22,812,980
Ensembl chr 9:22,794,177...22,813,012
JBrowse link
G VIP vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700
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 COA7 cytochrome c oxidase assembly factor 7 (putative) ISO OMIM NCBI chr15:8,706,047...8,718,184
Ensembl chr15:8,706,070...8,717,425
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 chr20:52,327,547...52,349,006
Ensembl chr20:52,318,408...52,348,963
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 chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
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 chr20:55,610,124...55,641,879
Ensembl chr20:55,612,260...55,641,832
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:121,545,690...121,564,117
Ensembl chr  X:121,545,586...121,563,186
JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 9:49,925,738...49,958,870
Ensembl chr 9:49,925,755...49,958,300
JBrowse link
G AGA aspartylglucosaminidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:52,314,860...52,324,879
Ensembl chr16:52,314,535...52,324,894
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367
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 chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:23680767, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G ATCAY ATCAY kinesin light chain interacting caytaxin susceptibility ISO RGD PMID:14556008 RGD:1599348 NCBI chr20:55,610,124...55,641,879
Ensembl chr20:55,612,260...55,641,832
JBrowse link
G ATG4D autophagy related 4D cysteine peptidase IEA Neurodegenerative vacuolar storage disease OMIA PMID:25875846, PMID:28583040 NCBI chr20:50,618,458...50,623,703
Ensembl chr20:50,618,459...50,624,179
JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12810666, PMID:25741868, PMID:28492532 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
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 chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 IEA Ataxia, cerebellar, ATP1B2-related OMIA PMID:28620085 NCBI chr 5:32,548,591...32,553,911
Ensembl chr 5:32,549,167...32,553,504
JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869
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 chr22:162,474...225,599
Ensembl chr22:191,888...225,266
JBrowse link
G ATXN1 ataxin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr35:15,458,498...15,863,829
Ensembl chr35:15,452,135...15,649,747
JBrowse link
G ATXN10 ataxin 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr10:20,277,339...20,440,749
Ensembl chr10:20,257,974...20,440,704
JBrowse link
G ATXN7 ataxin 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr20:27,226,957...27,335,327
Ensembl chr20:27,224,375...27,333,445
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 chr25:8,815,681...8,938,899
Ensembl chr25:8,817,628...8,939,249
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 chr19:17,537,840...17,550,443
Ensembl chr19:17,538,346...17,540,487
JBrowse link
G BTD biotinidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr23:27,037,640...27,069,544
Ensembl chr23:27,037,921...27,069,456
JBrowse link
G CA8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr29:10,678,122...10,763,361
Ensembl chr29:10,679,038...10,764,193
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 chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:26,481,148...26,544,511
Ensembl chr 9:26,481,652...26,544,845
JBrowse link
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr10:27,750,314...27,862,646
Ensembl chr10:27,750,935...27,862,885
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 chr31:37,230,900...37,247,170 JBrowse link
G CCDC88C coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:62,123,934...62,245,485
Ensembl chr 8:62,143,029...62,245,491
JBrowse link
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr11:73,548,003...73,693,044
Ensembl chr11:73,548,038...73,690,199
JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr 5:58,301,767...58,339,920
Ensembl chr 5:58,305,589...58,335,438
JBrowse link
G CHKB choline kinase beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr10:16,733,071...16,736,797
Ensembl chr10:16,733,095...16,736,758
JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:55,303,189...55,322,429
Ensembl chr 9:55,303,129...55,318,945
JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr34:17,224,136...17,238,755
Ensembl chr34:17,223,215...17,239,621
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 chr28:15,366,035...15,515,261
Ensembl chr28:15,366,601...15,514,886
JBrowse link
G COG5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr18:13,039,889...13,338,958
Ensembl chr18:13,039,889...13,338,538
JBrowse link
G COG7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:22,355,149...22,435,383
Ensembl chr 6:22,355,296...22,438,984
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr 7:38,085,441...38,123,037
Ensembl chr 7:38,085,885...38,122,974
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 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947
JBrowse link
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr17:48,728,096...48,759,187
Ensembl chr17:48,728,270...48,759,147
JBrowse link
G DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:55,252,802...55,298,244
Ensembl chr 9:55,252,347...55,298,244
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
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 chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825
JBrowse link
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr35:5,389,694...5,887,911
Ensembl chr35:5,460,664...5,948,574
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 chr12:66,508,801...66,632,830
Ensembl chr12:66,509,431...66,632,822
JBrowse link
G FMR1 FMRP translational regulator 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:116,249,079...116,287,008
Ensembl chr  X:116,249,142...116,321,439
JBrowse link
G GALC galactosylceramidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:11151421, PMID:28492532, PMID:30311386 NCBI chr 8:59,266,693...59,324,825
Ensembl chr 8:59,267,818...59,324,967
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779
JBrowse link
G GCSH glycine cleavage system protein H ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532, PMID:30311386 NCBI chr 5:70,745,591...70,757,292
Ensembl chr 5:70,745,258...70,756,830
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:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680
JBrowse link
G GRM1 glutamate metabotropic receptor 1 IEA Ataxia, cerebellar, neonatal, GRM1-related OMIA PMID:12465765, PMID:21281350 NCBI chr 1:37,205,817...37,600,048
Ensembl chr 1:37,206,542...37,598,134
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G HEXA hexosaminidase subunit alpha 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 chr30:35,836,788...35,862,525 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 chr37:7,010,421...7,025,912 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 chr 5:31,639,263...31,642,663
Ensembl chr 5:31,639,189...31,642,914
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr24:23,476,619...23,630,574
Ensembl chr24:23,476,736...23,627,469
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198
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 chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813
JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:4,279,362...4,423,080
Ensembl chr11:4,154,746...4,423,078
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr24:47,060,527...47,089,077
Ensembl chr24:47,060,245...47,089,711
JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:32581362 NCBI chr 5:31,613,335...31,635,313
Ensembl chr 5:31,613,398...31,633,736
JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 8:26,721,501...26,760,411
Ensembl chr 8:26,723,309...26,760,984
JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr32:32,421,648...32,439,431
Ensembl chr32:32,421,675...32,439,131
JBrowse link
G LOC490877 inverted formin, FH2 and WH2 domain containing ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:72,267,790...72,273,793 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:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994
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 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
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 chr10:17,139,912...17,164,666
Ensembl chr10:17,139,448...17,163,056
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530, PMID:1539598, PMID:1550128, PMID:2137962, PMID:8042671, PMID:8095070, PMID:8250532, PMID:8395787, PMID:9199572, PMID:9329425, PMID:9556461, PMID:9883875, PMID:10590437, PMID:10660580, PMID:10676807, PMID:10889120, PMID:11076946, PMID:11371515, PMID:11730668, PMID:11751691, PMID:11843698, PMID:11925565, PMID:14998933, PMID:17452590, PMID:19667215, PMID:24088041, PMID:24986921, PMID:25741868, PMID:26633545, PMID:32313153, PMID:32581362 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644
JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427
JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901
JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr29:39,668,089...39,692,479
Ensembl chr29:39,668,089...39,692,470
JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr37:14,680,908...14,713,838
Ensembl chr37:14,683,083...14,713,754
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 chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
JBrowse link
G NEK1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr25:20,297,190...20,528,537
Ensembl chr25:20,299,079...20,518,483
JBrowse link
G NOP56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr24:18,561,407...18,566,770
Ensembl chr24:18,561,408...18,566,719
JBrowse link
G NUBPL nucleotide binding protein like ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:10,796,462...11,026,804
Ensembl chr 8:10,796,459...11,090,920
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593
JBrowse link
G OTC ornithine carbamoyltransferase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366
JBrowse link
G PDE8B phosphodiesterase 8B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:29,289,867...29,432,557
Ensembl chr 3:29,291,549...29,432,542
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723
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 chr 6:33,346,969...33,371,095
Ensembl chr 6:33,347,270...33,371,025
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 chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G POLR3B RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
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 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
JBrowse link
G PRKCG protein kinase C gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:103,295,110...103,312,562 JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 1:113,279,940...113,294,042 JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:27129381, PMID:28328138 NCBI chr 9:34,188,459...34,197,004
Ensembl chr 9:34,188,544...34,189,080
JBrowse link
G RAB24 RAB24, member RAS oncogene family IEA Ataxia, cerebellar, juvenile to adolescent, RAB24-related OMIA PMID:3973637, PMID:6502189, PMID:7341602, PMID:7440348, PMID:11043686, PMID:24516392 NCBI chr 4:36,055,190...36,059,945
Ensembl chr 4:36,055,185...36,057,136
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689
JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:41,687,436...41,797,354
Ensembl chr 5:41,688,479...41,808,918
JBrowse link
G RELN reelin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr18:16,275,822...16,773,875
Ensembl chr18:16,275,837...16,773,875
JBrowse link
G RFC1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr 3:73,062,292...73,136,576
Ensembl chr 3:73,062,329...73,135,096
JBrowse link
G RPGRIP1L RPGRIP1 like ISO associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284
JBrowse link
G RPL27A ribosomal protein L27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr21:32,099,792...32,102,761
Ensembl chr21:32,099,792...32,102,754
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 chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482
JBrowse link
G SEL1L SEL1L adaptor subunit of ERAD E3 ubiquitin ligase IEA Ataxia, cerebellar, progressive early-onset, SEL1L-related OMIA PMID:22719266 NCBI chr 8:53,767,799...53,824,391
Ensembl chr 8:53,771,252...53,824,298
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 3:85,071,011...85,106,272
Ensembl chr 3:85,069,742...85,102,347
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:26467025 NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833
JBrowse link
G SFTA3 surfactant associated 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:15,048,052...15,063,373 JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr30:14,458,373...14,548,870
Ensembl chr30:14,459,606...14,547,694
JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:23,165,347...23,268,115
Ensembl chr16:23,200,798...23,267,775
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140
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 chr23:49,522,325...49,548,004
Ensembl chr23:49,523,852...49,547,904
JBrowse link
G SLC6A19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr34:11,329,126...11,344,248
Ensembl chr34:11,329,111...11,344,293
JBrowse link
G SNX14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25848753 NCBI chr12:45,526,042...45,598,868
Ensembl chr12:45,518,721...45,599,012
JBrowse link
G SPART spartin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:25741868 NCBI chr25:4,256,177...4,302,854
Ensembl chr25:4,232,533...4,316,363
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr18:50,631,053...50,670,428
Ensembl chr18:50,631,909...50,669,916
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:50,291,797...50,401,202
Ensembl chr 8:50,271,010...50,401,313
JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148
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 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388
JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr12:2,829,274...2,862,888
Ensembl chr12:2,829,306...2,851,432
JBrowse link
G TDP2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr35:22,693,203...22,707,054
Ensembl chr35:22,693,110...22,707,008
JBrowse link
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr24:18,698,016...18,721,975
Ensembl chr24:18,700,099...18,721,930
JBrowse link
G TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
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 chr29:22,475,961...22,487,920
Ensembl chr29:22,478,941...22,487,741
JBrowse link
G TRIP12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr25:42,060,103...42,208,326
Ensembl chr25:42,060,991...42,208,054
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 chr 9:5,009,468...5,016,513
Ensembl chr 9:5,009,468...5,016,483
JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:81,191,125...81,426,337
Ensembl chr 1:81,192,349...81,426,322
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:101,011,072...101,096,394
Ensembl chr  X:100,996,607...101,043,228
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 chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
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 chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
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 chr19:18,207,565...18,272,551
Ensembl chr19:18,207,417...18,271,828
JBrowse link
cerebellar ataxia type 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO OMIM NCBI chr 9:26,481,148...26,544,511
Ensembl chr 9:26,481,652...26,544,845
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 chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919
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 2:69,907,655...70,044,055
Ensembl chr 2:69,907,735...70,042,680
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 NCBI chr 6:39,891,930...39,894,549
Ensembl chr 6:39,891,926...39,927,919
JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO OMIM NCBI chr 6:39,893,492...39,895,385
Ensembl chr 6:39,893,670...39,897,573
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 chr25:13,490,550...14,066,942
Ensembl chr25:13,495,970...14,066,513
JBrowse link
G VLDLR very low density lipoprotein receptor IEA Cerebellar hypoplasia, VLDLR-associated OMIA PMID:25668033, PMID:25668516 NCBI chr 1:91,242,010...91,277,030
Ensembl chr 1:91,241,509...91,272,495
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 1:91,242,010...91,277,030
Ensembl chr 1:91,241,509...91,272,495
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 chr 9:45,860,200...45,875,439
Ensembl chr 9:45,859,455...45,875,439
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 chr29:10,678,122...10,763,361
Ensembl chr29:10,679,038...10,764,193
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 chr25:13,490,550...14,066,942
Ensembl chr25:13,495,970...14,066,513
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 chr19:3,482,845...3,580,380
Ensembl chr19:3,483,542...3,578,870
JBrowse link
G RFC1 replication factor C subunit 1 ISO OMIM NCBI chr 3:73,062,292...73,136,576
Ensembl chr 3:73,062,329...73,135,096
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 chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
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 chr 8:72,588,578...72,632,259
Ensembl chr 8:72,588,693...72,632,263
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 chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
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 chr25:15,300,303...15,429,555
Ensembl chr25:15,249,622...15,430,044
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 chr22:46,323,263...46,402,240
Ensembl chr22:46,307,905...46,398,625
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 5:44,882,111...45,021,152
Ensembl chr 5:44,884,283...45,120,203
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 chr 2:22,128,030...22,857,707
Ensembl chr 2:22,248,890...22,857,220
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 chr27:38,104,683...38,118,957
Ensembl chr27:38,104,842...38,111,462
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 chr19:52,987,170...53,116,410
Ensembl chr19:52,993,618...53,116,140
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 4:71,936,128...72,014,119
Ensembl chr 4:71,936,126...72,014,173
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 chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXN frataxin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Friedreich's ataxia
DNA:point mutation:exon:p.G130V
DNA:repeat:intron:GAA (human)
CTD
ClinVar
RGD
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 1:88,288,566...88,311,228
Ensembl chr 1:88,288,566...88,311,228
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:missense mutation:cds:m.3696C>T (human) RGD PMID:18807169 RGD:5490251 NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
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 1:88,288,566...88,311,228
Ensembl chr 1:88,288,566...88,311,228
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 chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198
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 6:12,185,870...12,347,461
Ensembl chr 6:12,185,846...12,361,869
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 chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433
JBrowse link
Machado-Joseph disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN3 ataxin 3 treatment
susceptibility
ISO OMIM
RGD
PMID:7874163, PMID:20308049 RGD:11557997, RGD:1599419 NCBI chr 8:1,318,440...1,354,814
Ensembl chr 8:1,247,155...1,354,720
JBrowse link
G BECN1 beclin 1 ISO protein:decreased expression:brain RGD PMID:21478185 RGD:6483072 NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236
JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:21743141 RGD:5508762 NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183
JBrowse link
G SLC18A2 solute carrier family 18 member A2 ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr28:27,731,709...27,809,341
Ensembl chr28:27,731,004...27,767,993
JBrowse link
G TH tyrosine hydroxylase ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
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 chr11:26,470,439...26,689,198
Ensembl chr11:26,470,487...26,731,294
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 chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G TWNK twinkle mtDNA helicase ISO OMIM NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044
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 chr14:18,643,693...18,665,262
Ensembl chr14:18,643,998...18,648,755
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 2:83,737,052...83,744,067
Ensembl chr 2:83,737,052...83,743,874
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 2:83,765,013...83,783,271
Ensembl chr 2:83,765,680...83,783,168
JBrowse link
G C2H1orf158 chromosome 2 C1orf158 homolog ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 2:83,713,652...83,727,022
Ensembl chr 2:83,713,686...83,726,788
JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 ISO OMIM NCBI chr 5:60,566,136...61,429,092
Ensembl chr 5:60,580,334...61,426,251
JBrowse link
G DHRS3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 2:83,826,361...83,865,412
Ensembl chr 2:83,826,374...83,865,426
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
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 2:84,269,126...84,275,214
Ensembl chr 2:84,269,267...84,274,787
JBrowse link
G NID1 nidogen 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 4:3,935,218...4,018,133
Ensembl chr 4:3,935,223...4,017,300
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 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562
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 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976
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 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364
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 7:36,561,080...37,250,336
Ensembl chr 7:36,565,901...37,250,578
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 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
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 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675
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 2:83,898,620...84,132,453
Ensembl chr 2:83,901,018...84,132,529
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 7:37,775,133...38,084,136
Ensembl chr 7:37,775,127...38,081,733
JBrowse link
G COQ8A coenzyme Q8A ISO OMIM NCBI chr 7:38,085,441...38,123,037
Ensembl chr 7:38,085,885...38,122,974
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 chr 6:39,262,887...39,308,912
Ensembl chr 6:39,295,045...39,308,758
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 chr 6:39,320,647...39,328,256
Ensembl chr 6:39,322,920...39,327,711
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 chr 6:39,309,224...39,320,215
Ensembl chr 6:39,310,466...39,359,491
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 chr 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472
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 chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:30311386 NCBI chr 9:51,337,205...51,345,284
Ensembl chr 9:51,337,187...51,362,422
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr 5:31,639,263...31,642,663
Ensembl chr 5:31,639,189...31,642,914
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776
JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr 5:31,613,335...31,635,313
Ensembl chr 5:31,613,398...31,633,736
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 chr19:12,905,336...13,030,901
Ensembl chr19:12,982,394...13,020,083
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 chr27:38,526,968...38,534,585
Ensembl chr27:38,526,528...38,535,937
JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO OMIM NCBI chr27:38,518,978...38,526,361
Ensembl chr27:38,518,974...38,559,455
JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5H17orf107 chromosome 5 C17orf107 homolog ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,705,484...31,706,675 JBrowse link
G CAMTA2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,632,064...31,657,537
Ensembl chr 5:31,631,838...31,657,792
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,696,710...31,707,639
Ensembl chr 5:31,696,993...31,708,671
JBrowse link
G ENO3 enolase 3 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,662,284...31,667,498
Ensembl chr 5:31,662,285...31,834,968
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,681,605...31,683,261 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 chr 5:31,639,263...31,642,663
Ensembl chr 5:31,639,189...31,642,914
JBrowse link
G KIF1C kinesin family member 1C ISO OMIM NCBI chr 5:31,613,335...31,635,313
Ensembl chr 5:31,613,398...31,633,736
JBrowse link
G PFN1 profilin 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,670,483...31,671,891
Ensembl chr 5:31,670,194...31,671,895
JBrowse link
G RNF167 ring finger protein 167 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,673,540...31,676,705
Ensembl chr 5:31,674,284...31,676,441
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 chr 5:31,676,826...31,680,138
Ensembl chr 5:31,675,740...31,679,933
JBrowse link
G SPAG7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,657,633...31,661,635
Ensembl chr 5:31,657,699...31,661,420
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 chr37:7,149,375...7,155,318
Ensembl chr37:7,149,418...7,152,418
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 chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
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 chr 2:16,666,742...16,695,753
Ensembl chr 2:16,666,749...16,695,709
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 chr 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472
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 NCBI chr28:40,568,948...40,570,240
Ensembl chr28:40,569,093...40,570,793
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 chr30:8,304,939...8,352,833
Ensembl chr30:8,305,007...8,350,904
JBrowse link
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO OMIM NCBI chr 9:26,481,148...26,544,511
Ensembl chr 9:26,481,652...26,544,845
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 1:37,205,817...37,600,048
Ensembl chr 1:37,206,542...37,598,134
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 4:57,743,007...57,823,740
Ensembl chr 4:57,742,651...57,823,740
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 4:57,815,337...57,903,811
Ensembl chr 4:57,837,526...57,904,250
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 chr 1:113,305,146...113,322,705
Ensembl chr 1:113,305,445...113,312,632
JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 46 ClinVar PMID:24011642, PMID:25741868 NCBI chr 1:113,279,940...113,294,042 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 chr35:15,458,498...15,863,829
Ensembl chr35:15,452,135...15,649,747
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 chr 8:61,023,564...61,107,599
Ensembl chr 8:61,024,084...61,107,506
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 chr10:20,277,339...20,440,749
Ensembl chr10:20,257,974...20,440,704
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 chr30:9,674,911...9,844,860
Ensembl chr30:9,676,828...9,844,838
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 2:41,005,259...41,447,048
Ensembl chr 2:41,005,644...41,459,878
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 chr 1:103,295,110...103,312,562 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 chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198
JBrowse link
G SETMAR SET domain without mariner transposase fusion ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 15 ClinVar PMID:17932120, PMID:20669319, PMID:21681106 NCBI chr20:13,214,241...13,224,020
Ensembl chr20:13,214,241...13,224,020
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 chr10:870,405...876,937
Ensembl chr10:870,392...909,161
JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797
JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 5:14,795,750...14,808,203
Ensembl chr 5:14,795,750...14,807,262
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 9:427,827...436,880
Ensembl chr 9:427,830...436,064
JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr30:10,487,926...10,513,437
Ensembl chr30:10,487,921...10,513,397
JBrowse link
G TBP TATA-box binding protein ISO OMIM NCBI chr12:72,458,959...72,479,271
Ensembl chr12:72,459,041...72,479,124
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 chr17:63,470,829...63,668,354
Ensembl chr17:63,470,415...63,668,035
JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 19 ClinVar PMID:25741868, PMID:28492532 NCBI chr12:68,535,614...68,639,115
Ensembl chr12:68,535,860...68,678,762
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 chr26:9,073,667...9,188,429
Ensembl chr26:9,073,809...9,188,414
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 chr18:51,667,647...51,680,904
Ensembl chr18:51,667,790...51,681,090
JBrowse link
G TMEM240 transmembrane protein 240 ISO OMIM NCBI chr 5:56,613,561...56,619,693
Ensembl chr 5:56,614,201...56,619,693
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 chr24:19,043,955...19,057,413
Ensembl chr24:19,053,870...19,056,364
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 chr20:55,577,413...55,586,422
Ensembl chr20:55,522,213...55,586,126
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 chr22:51,379,799...51,983,662
Ensembl chr22:51,380,788...51,982,849
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 chr 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472
JBrowse link
G TUBB6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 ClinVar PMID:28492532 NCBI chr 7:77,728,876...77,746,759
Ensembl chr 7:77,728,180...77,749,270
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 1:27,966,101...28,199,163
Ensembl chr 1:27,998,874...28,198,351
JBrowse link
G ATOH1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406
JBrowse link
G B9D1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:24886560, PMID:26092869 NCBI chr 5:40,854,110...40,866,828
Ensembl chr 5:40,854,127...40,866,824
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 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547
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 chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
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 4:71,435,994...71,567,567
Ensembl chr 4:71,430,575...71,567,267
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO OMIM NCBI chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198
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 chr 9:32,865,972...32,878,712
Ensembl chr 9:32,860,995...32,879,338
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:10,140,439...10,194,478
Ensembl chr  X:10,140,067...10,194,472
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 chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284
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 chr18:54,988,893...55,018,601 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 chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
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 chr 5:82,772,693...82,803,066
Ensembl chr 5:82,772,685...82,798,667
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 chr 5:82,075,536...82,102,846
Ensembl chr 5:82,075,852...82,102,168
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 chr12:40,845,357...40,876,658
Ensembl chr12:40,846,202...40,876,758
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 chr24:18,698,016...18,721,975
Ensembl chr24:18,700,099...18,721,930
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 chr24:18,561,407...18,566,770
Ensembl chr24:18,561,408...18,566,719
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 5:51,397,837...52,505,513
Ensembl chr 5:52,231,141...52,502,336
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 chr12:20,732,641...20,807,748
Ensembl chr12:20,734,282...20,807,739
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 chr 5:82,075,536...82,102,846
Ensembl chr 5:82,075,852...82,102,168
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 chr 8:62,123,934...62,245,485
Ensembl chr 8:62,143,029...62,245,491
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 chr18:50,631,053...50,670,428
Ensembl chr18:50,631,909...50,669,916
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 chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
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 chr20:27,226,957...27,335,327
Ensembl chr20:27,224,375...27,333,445
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 chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
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:58,305,804...58,470,827
Ensembl chr  X:58,306,776...58,471,417
JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic
ClinVar NCBI chr  X:46,703,477...46,731,767
Ensembl chr  X:46,703,477...46,723,529
JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic ClinVar NCBI chr23:9,031,984...9,045,781
Ensembl chr23:9,032,000...9,045,788
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:58,305,804...58,470,827
Ensembl chr  X:58,306,776...58,471,417
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:49,426,228...49,449,448 JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO OMIM NCBI chr  X:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609
JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869
JBrowse link
G NHSL2 NHS like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:56,078,560...56,203,105
Ensembl chr  X:55,954,435...56,197,319
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:56,579,538...56,758,293
Ensembl chr  X:56,581,435...56,757,905
JBrowse link
G RTL9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:83,639,071...83,650,359
Ensembl chr  X:83,643,872...83,650,356
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12678
    disease of anatomical entity 12216
      nervous system disease 9976
        neurodegenerative disease 2990
          primary cerebellar degeneration 305
            Spinocerebellar Ataxias 284
              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 3
              X-linked spinocerebellar ataxia 1 7
              X-linked spinocerebellar ataxia 2 0
              X-linked spinocerebellar ataxia 3 0
              X-linked spinocerebellar ataxia 4 0
              X-linked spinocerebellar ataxia 5 0
              cerebellar ataxia + 248
              spastic ataxia + 25
Path 2
Term Annotations click to browse term
  disease 12678
    disease of anatomical entity 12216
      nervous system disease 9976
        central nervous system disease 8429
          brain disease 7805
            movement disease 1084
              Dyskinesias 819
                Ataxia 369
                  Spinocerebellar Ataxias 284
                    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 3
                    X-linked spinocerebellar ataxia 1 7
                    X-linked spinocerebellar ataxia 2 0
                    X-linked spinocerebellar ataxia 3 0
                    X-linked spinocerebellar ataxia 4 0
                    X-linked spinocerebellar ataxia 5 0
                    cerebellar ataxia + 248
                    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.