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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.


show annotations for term's descendants           Sort by:
 
Spinocerebellar Ataxias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3-like AAA ATPase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
CTD
ClinVar
PMID:20208537, PMID:26467025 NCBI chr18:67,404,764...67,449,192
Ensembl chr18:67,404,764...67,449,172
JBrowse link
G Ano10 anoctamin 10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:122,175,874...122,294,444
Ensembl chr 9:122,175,874...122,294,423
JBrowse link
G Atxn1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11719269, PMID:16122429, PMID:17322884, PMID:18337722 NCBI chr13:45,549,755...45,964,991
Ensembl chr13:45,549,755...45,965,008
JBrowse link
G Atxn10 ataxin 10 susceptibility ISO RGD PMID:11017075 RGD:1599410 NCBI chr15:85,336,255...85,463,837
Ensembl chr15:85,336,245...85,463,212
JBrowse link
G Atxn1l ataxin 1-like ISO CTD Direct Evidence: therapeutic CTD PMID:17322884 NCBI chr 8:109,726,451...109,737,794
Ensembl chr 8:109,726,451...109,737,739
JBrowse link
G Atxn2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19224595, PMID:20065139 NCBI chr 5:121,711,609...121,814,950
Ensembl chr 5:121,711,337...121,816,493
JBrowse link
G Atxn7 ataxin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25664129 NCBI chr14:13,961,283...14,107,316
Ensembl chr14:13,961,440...14,107,302
JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit onset ISO DNA:repeats:cds:
CTD Direct Evidence: marker/mechanism
protein:altered expression:Purkinje cell:
CTD PMID:11985388, PMID:16899342, PMID:10945665, PMID:8988170, PMID:10369863 RGD:1358570, RGD:10054466, RGD:10054421 NCBI chr 8:84,338,631...84,640,251
Ensembl chr 8:84,338,639...84,640,246
JBrowse link
G Cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:94,408,391...94,474,400
Ensembl chr11:94,408,391...94,474,198
JBrowse link
G Casp7 caspase 7 ISO RGD PMID:17646170 RGD:5684537 NCBI chr19:56,396,833...56,442,348
Ensembl chr19:56,397,129...56,442,344
JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:100,911,519...101,029,351
Ensembl chr12:100,911,523...101,029,056
JBrowse link
G Cic capicua transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18337722 NCBI chr 7:25,267,658...25,294,159
Ensembl chr 7:25,267,704...25,294,159
JBrowse link
G Cwf19l1 CWF19-like 1, cell cycle control (S. pombe) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:44,108,637...44,135,876
Ensembl chr19:44,108,637...44,135,876
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:18414213, PMID:24033266, PMID:24136616, PMID:25741868, PMID:26100331, PMID:26344056, PMID:26378787, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr12:110,601,395...110,666,944
Ensembl chr12:110,601,452...110,666,945
JBrowse link
G Elovl5 ELOVL family member 5, elongation of long chain fatty acids (yeast) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:77,917,365...77,984,519
Ensembl chr 9:77,917,364...77,984,519
JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar NCBI chr14:123,974,441...124,677,686
Ensembl chr14:123,977,907...124,677,127
JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476
JBrowse link
G Gfi1 growth factor independent 1 transcription repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16122429 NCBI chr 5:107,716,655...107,725,805
Ensembl chr 5:107,716,657...107,726,036
JBrowse link
G Grid2 glutamate receptor, ionotropic, delta 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:63,256,006...64,704,321
Ensembl chr 6:63,255,876...64,704,323
JBrowse link
G Grm1 glutamate receptor, metabotropic 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:10,686,059...11,082,382
Ensembl chr10:10,686,059...11,082,356
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar PMID:21367767, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29925855 NCBI chr 6:108,213,083...108,551,116
Ensembl chr 6:108,213,096...108,551,109
JBrowse link
G Kat2a K(lysine) acetyltransferase 2A IEP protein:increased expression:retina (mouse) RGD PMID:15932940 RGD:9590239 NCBI chr11:100,704,746...100,712,485
Ensembl chr11:100,704,746...100,712,465
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 chr15:91,672,791...91,816,124
Ensembl chr15:91,673,175...91,816,120
JBrowse link
G Mme membrane metallo endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:63,295,211...63,383,713
Ensembl chr 3:63,241,537...63,386,030
JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:130,274,367...130,279,313
Ensembl chr 2:130,274,430...130,279,313
JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr 2:5,020,521...5,064,399
Ensembl chr 2:5,020,642...5,064,051
JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant ClinVar NCBI chr 2:129,686,549...129,699,938
Ensembl chr 2:129,686,565...129,699,844
JBrowse link
G Polg polymerase (DNA directed), gamma 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 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta ISO DNA:repeat, SNPs, haplotype:multiple
CTD Direct Evidence: marker/mechanism
CTD PMID:18940801, PMID:20629122 RGD:5686297 NCBI chr18:42,645,207...43,059,471
Ensembl chr18:42,637,432...43,059,471
Ensembl chr18:42,637,432...43,059,471
JBrowse link
G Prkcg protein kinase C, gamma ISO DNA:missense mutations:cds: (human)
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:20398063, PMID:12644968 RGD:737790 NCBI chr 7:3,303,532...3,331,099
Ensembl chr 7:3,289,179...3,331,099
JBrowse link
G Rbm17 RNA binding motif protein 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18337722 NCBI chr 2:11,585,439...11,603,199
Ensembl chr 2:11,585,437...11,604,153
JBrowse link
G Rubcn RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:32,821,702...32,877,729
Ensembl chr16:32,821,703...32,877,766
JBrowse link
G Scyl1 SCY1-like 1 (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:5,758,422...5,771,419
Ensembl chr19:5,758,351...5,771,419
JBrowse link
G Snx14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:88,376,755...88,438,929
Ensembl chr 9:88,376,750...88,438,958
Ensembl chr 9:88,376,750...88,438,958
JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17940722, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr19:4,711,208...4,753,978
Ensembl chr19:4,711,167...4,752,360
JBrowse link
G Stub1 STIP1 homology and U-Box containing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:25,830,634...25,832,919
Ensembl chr17:25,830,505...25,833,404
JBrowse link
G Syt14 synaptotagmin XIV ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:192,882,653...193,035,871
Ensembl chr 1:192,891,233...193,035,775
JBrowse link
G Tbp TATA box binding protein onset IMP
ISO
DNA:repeat:cds:g.172(CAG/CAA)47-55 (human) RGD PMID:21705419, PMID:11448935 RGD:5684014, RGD:5684015 NCBI chr17:15,499,888...15,517,427
Ensembl chr17:15,499,888...15,528,379
JBrowse link
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:24,831,659...24,842,153
Ensembl chr13:24,831,679...24,842,153
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 chr 2:130,112,416...130,154,233
Ensembl chr 2:130,112,416...130,154,232
JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:36,620,482...36,690,429
Ensembl chr 3:36,620,482...36,690,167
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 chr 2:120,732,816...120,850,584
Ensembl chr 2:120,732,816...120,850,604
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive 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 chr19:45,005,663...45,012,764
Ensembl chr19:45,005,663...45,012,762
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:104,046,587...104,063,176
Ensembl chr 9:104,046,599...104,063,134
JBrowse link
G Vwa3b von Willebrand factor A domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:37,029,158...37,187,608
Ensembl chr 1:37,026,596...37,187,613
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:114,439,635...115,352,712
Ensembl chr 8:114,439,655...115,352,708
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 ClinVar Annotator: match by OMIM:610198
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
ClinVar
OMIM
PMID:16055927, PMID:22797137, PMID:22981120, PMID:27928778, PMID:28492532, PMID:29625556 NCBI chr 3:34,057,280...34,081,354
Ensembl chr 3:34,056,020...34,081,321
JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Ataxia Telangiectasia
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C
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 9:53,402,713...53,434,426
Ensembl chr 9:53,402,325...53,434,402
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Atm ataxia telangiectasia mutated ISO
IEA
IMP
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
OMIM:208900
ClinVar Annotator: match by term: Louis-Bar syndrome
DNA:deletion:exon:
ClinVar Annotator: match by OMIM:208900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:1953577, PMID:2491181, PMID:2557216, PMID:2798560, PMID:3338800, PMID:6504056, PMID:7792600, PMID:7836845, PMID:8659541, PMID:8665503, PMID:8698354, PMID:8755918, PMID:8789452, PMID:8797579, PMID:8808599, PMID:8845835, PMID:8923007, PMID:8958160, PMID:8968760, PMID:9000145, PMID:9043869, PMID:9054948, PMID:9121450, PMID:9150358, PMID:9244351, PMID:9288106, PMID:9334731, PMID:9443866, PMID:9450874, PMID:9450906, PMID:9463314, PMID:9488043, PMID:9497252, PMID:9600235, PMID:9622061, PMID:9682216, PMID:9711876, PMID:9733514, PMID:9764584, PMID:9792409, PMID:9792410, PMID:9872980, PMID:9887333, PMID:9892178, PMID:10023947, PMID:10234507, PMID:10330348, PMID:10397742, PMID:10416970, PMID:10425038, PMID:10464642, PMID:10534763, PMID:10607471, PMID:10677309, PMID:10706620, PMID:10738255, PMID:10767628, PMID:10817650, PMID:10864201, PMID:10873394, PMID:10980530, PMID:11054065, PMID:11173867, PMID:11298136, PMID:11382771, PMID:11443540, PMID:11468183, PMID:11505391, PMID:11507241, PMID:11507245, PMID:11516106, PMID:11526498, PMID:11606401, PMID:11746755, PMID:11756177, PMID:11756185, PMID:11805335, PMID:11821961, PMID:11826028, PMID:11830610, PMID:11839094, PMID:11849780, PMID:11857346, PMID:11889466, PMID:11897820, PMID:11897822, PMID:11996792, PMID:12072877, PMID:12091354, PMID:12149228, PMID:12195425, PMID:12362033, PMID:12473176, PMID:12473594, PMID:12497634, PMID:12511424, PMID:12552559, PMID:12552566, PMID:12637545, PMID:12646636, PMID:12655570, PMID:12673794, PMID:12673797, PMID:12673804, PMID:12697903, PMID:12745884, PMID:12810666, PMID:12815592, PMID:12882767, PMID:12883528, PMID:12917204, PMID:12935922, PMID:12935933, PMID:12969974, PMID:14562025, PMID:14586414, PMID:14627829, PMID:14634505, PMID:14643952, PMID:14654357, PMID:14695186, PMID:14695534, PMID:14695997, PMID:14735203, PMID:14754616, PMID:14970866, PMID:15039971, PMID:15042666, PMID:15054841, PMID:15101044, PMID:15159313, PMID:15164409, PMID:15174027, PMID:15177039, PMID:15196260, PMID:15217508, PMID:15279807, PMID:15279808, PMID:15280931, PMID:15390180, PMID:15450731, PMID:15498871, PMID:15629612, PMID:15643608, PMID:15696190, PMID:15713674, PMID:15756685, PMID:15824023, PMID:15824150, PMID:15843990, PMID:15880680, PMID:15880721, PMID:15928302, PMID:16014569, PMID:16035317, PMID:16112413, PMID:16140923, PMID:16167060, PMID:16189143, PMID:16238588, PMID:16266405, PMID:16380133, PMID:16387360, PMID:16411093, PMID:16461462, PMID:16574953, PMID:16603769, PMID:16631465, PMID:16652348, PMID:16741161, PMID:16832357, PMID:16864838, PMID:16914028, PMID:16941484, PMID:16958054, PMID:16998505, PMID:17001622, PMID:17023046, PMID:17124347, PMID:17132159, PMID:17166884, PMID:17187232, PMID:17203191, PMID:17298726, PMID:17333338, PMID:17341484, PMID:17344846, PMID:17351744, PMID:17376192, PMID:17393301, PMID:17490827, PMID:17517479, PMID:17535973, PMID:17540590, PMID:17623063, PMID:17640065, PMID:17699107, PMID:17876757, PMID:17910737, PMID:17968022, PMID:17985259, PMID:18066086, PMID:18164969, PMID:18174244, PMID:18261794, PMID:18321536, PMID:18384426, PMID:18414213, PMID:18431795, PMID:18433505, PMID:18497957, PMID:18502988, PMID:18504682, PMID:18560558, PMID:18565893, PMID:18573109, PMID:18575927, PMID:18634022, PMID:18701470, PMID:18807267, PMID:18813293, PMID:18846412, PMID:19018867, PMID:19147735, PMID:19347964, PMID:19404735, PMID:19431188, PMID:19440741, PMID:19535770, PMID:19605768, PMID:19638463, PMID:19683821, PMID:19691550, PMID:19705055, PMID:19763152, PMID:19770270, PMID:19773425, PMID:19781682, PMID:19823873, PMID:20077034, PMID:20124459, PMID:20153123, PMID:20232390, PMID:20301790, PMID:20305132, PMID:20307669, PMID:20308662, PMID:20346647, PMID:20480175, PMID:20544271, PMID:20678261, PMID:20717907, PMID:20826828, PMID:20840352, PMID:20927582, PMID:20945614, PMID:20966255, PMID:20981092, PMID:21150274, PMID:21164480, PMID:21346221, PMID:21354641, PMID:21445571, PMID:21447618, PMID:21459046, PMID:21514219, PMID:21520333, PMID:21593342, PMID:21665257, PMID:21681852, PMID:21778326, PMID:21787400, PMID:21792198, PMID:21833744, PMID:21910157, PMID:21933854, PMID:21965147, PMID:21993670, PMID:22006793, PMID:22017321, PMID:22071889, PMID:22130802, PMID:22146522, PMID:22200977, PMID:22213089, PMID:22250480, PMID:22345219, PMID:22369572, PMID:22406018, PMID:22420423, PMID:22438227, PMID:22527104, PMID:22529920, PMID:22585167, PMID:22585170, PMID:22649200, PMID:22674506, PMID:22763152, PMID:22869595, PMID:22895193, PMID:22927201, PMID:22927308, PMID:22952040, PMID:22995991, PMID:23074045, PMID:23075580, PMID:23091097, PMID:23142947, PMID:23143971, PMID:23264026, PMID:23322442, PMID:23360865, PMID:23369113, PMID:23376243, PMID:23454770, PMID:23532176, PMID:23555315, PMID:23561644, PMID:23566627, PMID:23585368, PMID:23585524, PMID:23612382, PMID:23632773, PMID:23640770, PMID:23652012, PMID:23667852, PMID:23671275, PMID:23726790, PMID:23761041, PMID:23774824, PMID:23807571, PMID:23836671, PMID:23946315, PMID:23960188, PMID:24033266, PMID:24088041, PMID:24090759, PMID:24113346, PMID:24120321, PMID:24142997, PMID:24172824, PMID:24197801, PMID:24201163, PMID:24204193, PMID:24325359, PMID:24326041, PMID:24356096, PMID:24368146, PMID:24405665, PMID:24416720, PMID:24422204, PMID:24448499, PMID:24451234, PMID:24512911, PMID:24549055, PMID:24556621, PMID:24568663, PMID:24628946, PMID:24643969, PMID:24682267, PMID:24695838, PMID:24728327, PMID:24733792, PMID:24763289, PMID:24789685, PMID:24825865, PMID:24831771, PMID:24886963, PMID:24935205, PMID:24951259, PMID:25032865, PMID:25037873, PMID:25040471, PMID:25042771, PMID:25058500, PMID:25077176, PMID:25101980, PMID:25117502, PMID:25122203, PMID:25133958, PMID:25148578, PMID:25151137, PMID:25159481, PMID:25182519, PMID:25186627, PMID:25231023, PMID:25232094, PMID:25257301, PMID:25275298, PMID:25303977, PMID:25318351, PMID:25320358, PMID:25326635, PMID:25326637, PMID:25330149, PMID:25356970, 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:25749350, PMID:25793145, PMID:25862857, PMID:25877891, PMID:25882375, PMID:25914063, PMID:25925381, PMID:25925954, PMID:25938944, PMID:25957637, PMID:25980754, PMID:26009992, PMID:26010451, PMID:26022348, PMID:26023681, PMID:26053404, PMID:26085511, PMID:26094658, PMID:26098866, PMID:26112015, PMID:26123645, PMID:26155992, PMID:26164066, PMID:26182300, PMID:26206375, PMID:26207792, PMID:26214590, PMID:26220245, PMID:26246601, PMID:26247737, PMID:26250988, PMID:26270727, PMID:26296696, PMID:26296701, PMID:26320869, 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:26635394, PMID:26662178, PMID:26667234, PMID:26677768, PMID:26681312, PMID:26689913, PMID:26692440, PMID:26693373, PMID:26757417, PMID:26771497, PMID:26778106, PMID:26787654, PMID:26822949, PMID:26824983, PMID:26837699, PMID:26845104, PMID:26846839, PMID:26878173, PMID:26898890, PMID:26901136, PMID:26911350, PMID:26915675, PMID:26917275, PMID:26976419, PMID:27016235, PMID:27034805, PMID:27039262, PMID:27064202, PMID:27067391, PMID:27083775, PMID:27093186, PMID:27121310, PMID:27146902, PMID:27149842, PMID:27150160, PMID:27153395, PMID:27159176, PMID:27276934, PMID:27304073, PMID:27413114, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27460089, PMID:27479817, PMID:27484032, PMID:27498913, PMID:27528516, PMID:27553368, PMID:27581129, PMID:27595995, PMID:27599564, PMID:27602502, PMID:27616075, PMID:27621404, PMID:27664052, PMID:27671921, PMID:27720647, PMID:27732944, PMID:27779110, PMID:27782108, PMID:27798748, PMID:27803004, PMID:27844328, PMID:27871447, PMID:27873105, PMID:27878467, PMID:27884168, PMID:27913932, PMID:27932211, PMID:27959900, PMID:27978560, PMID:27980538, PMID:27988859, PMID:27989354, PMID:27997549, PMID:28007021, PMID:28008555, PMID:28051113, PMID:28076423, PMID:28093192, PMID:28093616, PMID:28119368, PMID:28126470, PMID:28135048, PMID:28135145, PMID:28152038, PMID:28170084, PMID:28182994, PMID:28188106, PMID:28195393, PMID:28202063, PMID:28211887, PMID:28281021, PMID:28282032, PMID:28338653, PMID:28423363, PMID:28440963, PMID:28486781, PMID:28492530, PMID:28492532, PMID:28497333, PMID:28503720, PMID:28528518, PMID:28569218, PMID:28580595, PMID:28591191, PMID:28608266, PMID:28640387, PMID:28652578, PMID:28657667, PMID:28687356, PMID:28687971, PMID:28716242, PMID:28717660, PMID:28724667, PMID:28726808, PMID:28767289, PMID:28779002, PMID:28825054, PMID:28828701, PMID:28830922, PMID:28843361, PMID:28849312, PMID:28873162, PMID:28875981, PMID:28878254, PMID:28894253, PMID:28956312, PMID:28975018, PMID:28975465, PMID:29036293, PMID:29059438, PMID:29101607, PMID:29141312, PMID:29271107, PMID:29335925, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29415044, PMID:29423082, PMID:29449433, PMID:29458332, PMID:29470806, PMID:29478780, PMID:29482223, PMID:29486991, PMID:29487225, PMID:29506079, PMID:29506128, PMID:29522266, PMID:29555771, PMID:29566657, PMID:29596542, PMID:29600275, PMID:29641532, PMID:29642553, PMID:29659569, PMID:29664460, PMID:29665859, PMID:29667044, PMID:29678143, PMID:29684080, PMID:29719442, PMID:29752822, PMID:29753700, PMID:29778231, PMID:29785153, PMID:29789584, PMID:29866652, PMID:29888287, PMID:29909963, PMID:29915322, PMID:29922827, PMID:29945567, PMID:29946849, PMID:29954938, PMID:30067863, PMID:30086788, PMID:30093976, PMID:30128536, PMID:30181556, PMID:30197789, PMID:30214756, PMID:30233647, PMID:30256826, PMID:30262796, PMID:30287823, PMID:30303537, PMID:30306255, PMID:30309722, PMID:30311386, PMID:30363071, PMID:30374176, PMID:30389154, PMID:30402232, PMID:30426508, PMID:30447919, PMID:30482293, PMID:30504431, PMID:30537493, PMID:30541756, PMID:30549301, PMID:30553997, PMID:30584090, PMID:30607632, PMID:30620386, PMID:30651582, PMID:30666157, PMID:30713859, PMID:30713931, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30883245, PMID:30927251, PMID:30938815, PMID:30982232, PMID:30995915, PMID:31050087, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31227566, PMID:31263571, PMID:31341520, PMID:31360874, PMID:31428572, PMID:31666926, PMID:31742824, PMID:31815095, PMID:31843900, PMID:31867841, PMID:31871109, PMID:31919090, PMID:31920950, PMID:32183364, PMID:32325837, PMID:32488064, PMID:32566746, PMID:32860008, PMID:197781682, PMID:28007901, PMID:19626507 RGD:12879399, RGD:10053611 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr17:27,019,812...27,028,627
Ensembl chr17:27,019,810...27,029,009
JBrowse link
G Bax BCL2-associated X protein susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
JBrowse link
G Bik BCL2-interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr15:83,526,790...83,544,635
Ensembl chr15:83,526,862...83,544,634
JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO
IEP
protein:altered localization:nucleus: RGD PMID:22466704, PMID:22466704, PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 1:91,928,779...92,195,702
Ensembl chr 1:91,928,779...92,195,699
JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Npat nuclear protein in the AT region ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 9:53,536,889...53,575,627
Ensembl chr 9:53,537,047...53,574,342
JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11a MRE11A homolog A, 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 chr 9:14,784,654...14,837,125
Ensembl chr 9:14,784,654...14,837,123
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:132,249,286...132,253,180
Ensembl chr 2:132,249,162...132,253,314
JBrowse link
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin susceptibility ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia
ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
ClinVar Annotator: match by OMIM:208920
OMIM
ClinVar
PMID:11176957, PMID:11294920, PMID:11586299, PMID:11586300, PMID:12196655, PMID:12629250, PMID:14506070, PMID:15164193, PMID:15365154, PMID:15596775, PMID:15699391, PMID:15790557, PMID:15852392, PMID:15996403, PMID:16400613, PMID:16700949, PMID:17242337, PMID:21465257, PMID:23659632, PMID:24033266, PMID:25637650, PMID:25741868, PMID:26285866, PMID:26467025, PMID:28492532, PMID:28652255, PMID:28881617, PMID:29356829, PMID:29482223, PMID:32214227, PMID:21465257, PMID:17572444, PMID:12196655 RGD:10054301, RGD:10054300, RGD:1599207 NCBI chr 4:40,682,078...40,721,667
Ensembl chr 4:40,682,382...40,703,194
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 7:44,856,479...44,865,337
Ensembl chr 7:44,857,139...44,862,992
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:32488064 NCBI chr 2:29,123,588...29,182,471
Ensembl chr 2:29,124,181...29,182,471
JBrowse link
ataxia with oculomotor apraxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266, PMID:26467025, PMID:28492532 NCBI chr 4:40,682,078...40,721,667
Ensembl chr 4:40,682,382...40,703,194
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 1
ClinVar Annotator: match by term: Ataxia-ocular apraxia-2
ClinVar Annotator: match by OMIM:606002
OMIM
ClinVar
PMID:14770181, PMID:15106121, PMID:15732101, PMID:17159128, PMID:18058631, PMID:18414213, PMID:18625865, PMID:19569000, PMID:19696032, PMID:20540686, PMID:20981092, PMID:21190393, PMID:22088787, PMID:23129421, PMID:23757202, PMID:23806086, PMID:23881933, PMID:23941260, PMID:24033266, PMID:24088041, PMID:25025039, PMID:25174650, PMID:25299611, PMID:25326635, PMID:25382069, PMID:25741868, PMID:25802885, PMID:26257172, PMID:26467025, PMID:26601740, PMID:26633545, PMID:27013921, PMID:27790088, PMID:28130640, PMID:28492532, PMID:28642336, PMID:28832565, PMID:29650794, PMID:30311386 NCBI chr 2:29,123,588...29,182,471
Ensembl chr 2:29,124,181...29,182,471
JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 ISO ClinVar Annotator: match by OMIM:615217 OMIM
ClinVar
PMID:22065524 NCBI chr11:68,432,125...68,497,849
Ensembl chr11:68,432,121...68,497,849
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 ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar
PMID:7165045, PMID:10446192, PMID:18414213, PMID:20118933, PMID:22508754, PMID:23224214, PMID:24965255, PMID:25558065, PMID:25728773, PMID:25741868, PMID:26467025, PMID:27066567, PMID:27165045, PMID:27232581, PMID:28492532, PMID:30039206, PMID:31061747 NCBI chr 7:44,856,479...44,865,337
Ensembl chr 7:44,857,139...44,862,992
JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene 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 9:53,402,713...53,434,426
Ensembl chr 9:53,402,325...53,434,402
JBrowse link
G Atm ataxia telangiectasia mutated 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 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11a MRE11A homolog A, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1
ClinVar Annotator: match by OMIM:604391
OMIM
ClinVar
PMID:8445618, PMID:8684395, PMID:9845372, PMID:10612394, PMID:11196167, PMID:11238951, PMID:11371508, PMID:12966088, PMID:14684699, PMID:14690604, PMID:15269180, PMID:15574463, PMID:16858402, PMID:18652530, PMID:18854157, PMID:19383352, PMID:20052722, PMID:20805886, PMID:21227757, PMID:21252998, PMID:21324166, PMID:22006311, PMID:22078559, PMID:22139912, PMID:22705791, PMID:22863007, PMID:23080121, PMID:23436002, PMID:23718828, PMID:23912341, PMID:24030952, PMID:24033266, PMID:24332946, PMID:24549055, PMID:24733832, PMID:24763289, PMID:24894818, PMID:25040471, PMID:25326635, PMID:25452441, PMID:25503501, PMID:25741868, PMID:26467025, PMID:26483394, PMID:26534844, PMID:26633542, PMID:26680607, PMID:26786923, PMID:26787654, PMID:26845104, PMID:26898890, PMID:27124789, PMID:27153395, PMID:27329137, PMID:27621404, PMID:27783279, PMID:27878467, PMID:28051113, PMID:28125075, PMID:28152038, PMID:28202063, PMID:28486781, PMID:28492532, PMID:28559769, PMID:28849312, PMID:29170652, PMID:29348823, PMID:29752822, PMID:29922827, PMID:30441849, PMID:32566746 NCBI chr 9:14,784,654...14,837,125
Ensembl chr 9:14,784,654...14,837,123
JBrowse link
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar
PMID:24911150 NCBI chr 2:132,249,286...132,253,180
Ensembl chr 2:132,249,162...132,253,314
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 (cytosine-5) 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
ClinVar Annotator: match by OMIM:604121
OMIM
ClinVar
PMID:8747854, PMID:22328086, PMID:25741868 NCBI chr 9:20,907,206...20,959,888
Ensembl chr 9:20,907,209...20,959,888
JBrowse link
autosomal recessive cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:24033266, PMID:25089919, PMID:25133958, PMID:25182700, PMID:25664549, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 9:122,175,874...122,294,444
Ensembl chr 9:122,175,874...122,294,423
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:18414213, PMID:22036850, PMID:24164873, PMID:25741868, PMID:26467025, PMID:26640698, PMID:28492532 NCBI chr 1:180,165,238...180,196,020
Ensembl chr 1:180,165,238...180,199,602
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 chr19:4,711,208...4,753,978
Ensembl chr19:4,711,167...4,752,360
JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17159980, PMID:24033266, PMID:25843669, PMID:26467025, PMID:27782104 NCBI chr10:5,020,192...5,550,692
Ensembl chr10:5,020,917...5,551,482
JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr12:99,884,515...99,955,223
Ensembl chr12:99,884,517...99,955,219
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 chr19:45,005,663...45,012,764
Ensembl chr19:45,005,663...45,012,762
JBrowse link
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 10
ClinVar Annotator: match by OMIM:613728
OMIM
ClinVar
PMID:21092923, PMID:24033266, PMID:25089919, PMID:25133958, PMID:25182700, PMID:25425649, PMID:25664549, PMID:25730773, PMID:25741868, PMID:26467025, PMID:27091155, PMID:27142713, PMID:27270446, PMID:28492532 NCBI chr 9:122,175,874...122,294,444
Ensembl chr 9:122,175,874...122,294,423
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 XIV ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 11
ClinVar Annotator: match by OMIM:614229
OMIM
ClinVar
PMID:21835308 NCBI chr 1:192,882,653...193,035,871
Ensembl chr 1:192,891,233...193,035,775
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 avian musculoaponeurotic fibrosarcoma oncogene homolog ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12
ClinVar PMID:24369382, PMID:28492532, PMID:32214227 NCBI chr 8:115,703,253...115,706,894
Ensembl chr 8:115,682,942...115,707,794
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
ClinVar Annotator: match by OMIM:614322
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:17470496, PMID:24369382, PMID:25411445, PMID:25741868, PMID:28492532, PMID:29358611, PMID:32214227 NCBI chr 8:114,439,635...115,352,712
Ensembl chr 8:114,439,655...115,352,708
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 receptor, metabotropic 1 ISO
IEA
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 13
OMIM:614831
OMIM
ClinVar
MouseDO
PMID:25741868, PMID:25741889, PMID:26467025 NCBI chr10:10,686,059...11,082,382
Ensembl chr10:10,686,059...11,082,356
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 ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 14
ClinVar Annotator: match by OMIM:615386
OMIM
ClinVar
PMID:17940722, PMID:23236289, PMID:23838597, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29590070 NCBI chr19:4,711,208...4,753,978
Ensembl chr19:4,711,167...4,752,360
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 RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 15 OMIM
ClinVar
PMID:20826435, PMID:23728897, PMID:25741868, PMID:28492532, PMID:30237576, PMID:32450808 NCBI chr16:32,821,702...32,877,729
Ensembl chr16:32,821,703...32,877,766
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 Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 16
ClinVar PMID:24113144, PMID:24742043, PMID:25741868 NCBI chr17:25,829,043...25,831,843
Ensembl chr17:25,828,867...25,831,843
JBrowse link
G Stub1 STIP1 homology and U-Box containing protein 1 ISO
IEA
ClinVar Annotator: match by OMIM:615768
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 16
ClinVar
MouseDO
OMIM
PMID:24113144, PMID:24312598, PMID:24742043, PMID:25258038, PMID:25741868 NCBI chr17:25,830,634...25,832,919
Ensembl chr17:25,830,505...25,833,404
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 (S. pombe) ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 17
ClinVar Annotator: match by OMIM:616127
OMIM
ClinVar
PMID:15981765, PMID:18414213, PMID:25361784, PMID:25741868, PMID:26197978, PMID:27016154 NCBI chr19:44,108,637...44,135,876
Ensembl chr19:44,108,637...44,135,876
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 receptor, ionotropic, delta 2 ISO
IEA
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 18
OMIM:616204
OMIM
ClinVar
MouseDO
PMID:23611888, PMID:24078737, PMID:25741868 NCBI chr 6:63,256,006...64,704,321
Ensembl chr 6:63,255,876...64,704,323
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 (sodium/hydrogen exchanger), member 1 ISO ClinVar Annotator: match by term: Lichtenstein-knorr syndrome OMIM
ClinVar
PMID:25205112, PMID:25741868, PMID:30018422 NCBI chr 4:133,369,711...133,423,702
Ensembl chr 4:133,369,706...133,423,702
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) alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 2 ClinVar
OMIM
PMID:10528257, PMID:25808372, PMID:26657514 NCBI chr 2:26,389,348...26,397,121
Ensembl chr 2:26,389,339...26,397,122
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-Cytb cytochrome b, mitochondrial ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 20 ClinVar NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288
JBrowse link
G Snx14 sorting nexin 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 20 OMIM
ClinVar
PMID:24501761, PMID:25439728, PMID:25741868, PMID:25848753, PMID:27913285 NCBI chr 9:88,376,755...88,438,929
Ensembl chr 9:88,376,750...88,438,958
Ensembl chr 9:88,376,750...88,438,958
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 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 21
ClinVar Annotator: match by term: CALFAN syndrome
OMIM
ClinVar
PMID:25741868, PMID:29419818, PMID:32860008 NCBI chr19:5,758,422...5,771,419
Ensembl chr19:5,758,351...5,771,419
JBrowse link
autosomal recessive spinocerebellar ataxia 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vwa3b von Willebrand factor A domain containing 3B ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 ClinVar
OMIM
PMID:26157035 NCBI chr 1:37,029,158...37,187,608
Ensembl chr 1:37,026,596...37,187,613
JBrowse link
autosomal recessive spinocerebellar ataxia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 23 ClinVar
OMIM
PMID:24658003, PMID:30109272 NCBI chr13:24,831,659...24,842,153
Ensembl chr13:24,831,679...24,842,153
JBrowse link
autosomal recessive spinocerebellar ataxia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 ClinVar
OMIM
PMID:26872069 NCBI chr 9:104,046,587...104,063,176
Ensembl chr 9:104,046,599...104,063,134
JBrowse link
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg5 autophagy related 5 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 ClinVar
OMIM
PMID:15981765, PMID:26812546 NCBI chr10:44,268,322...44,364,299
Ensembl chr10:44,268,358...44,364,291
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 complementing defective repair in Chinese hamster cells 1 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 ClinVar
OMIM
PMID:28002403 NCBI chr 7:24,546,699...24,573,438
Ensembl chr 7:24,546,289...24,573,440
JBrowse link
autosomal recessive spinocerebellar ataxia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap2 ganglioside-induced differentiation-associated-protein 2 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 OMIM
ClinVar
PMID:30084953 NCBI chr 3:100,162,381...100,206,989
Ensembl chr 3:100,162,381...100,206,981
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 (S. cerevisiae) ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 OMIM
ClinVar
PMID:1168944, PMID:27307223 NCBI chr11:45,945,305...45,955,503
Ensembl chr11:45,946,843...45,955,494
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 13D ISO ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 4
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
ClinVar
OMIM
PMID:11960835, PMID:25741868, PMID:28492532, PMID:29518281, PMID:29604224 NCBI chr 4:144,871,045...145,195,037
Ensembl chr 4:144,972,622...145,195,005
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 I ISO ClinVar Annotator: match by term: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 7
OMIM
ClinVar
PMID:9295267, PMID:9788728, PMID:10330339, PMID:11339651, PMID:12376936, PMID:15317752, PMID:15520412, PMID:18684116, PMID:20340139, PMID:22612257, PMID:23418007, PMID:23539563, PMID:25356970, PMID:25741868, PMID:26224725, PMID:28335910, PMID:28492532, PMID:30311386 NCBI chr 7:105,744,811...105,752,282
Ensembl chr 7:105,744,811...105,752,235
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 chr17:31,612,623...31,637,233
Ensembl chr17:31,608,894...31,637,238
JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Fbxo5 F-box protein 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr10:5,799,158...5,805,465
Ensembl chr10:5,799,160...5,805,600
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 chr10:5,811,119...5,825,015
Ensembl chr10:5,811,887...5,823,910
JBrowse link
G Myct1 myc target 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr10:5,593,728...5,606,789
Ensembl chr10:5,593,775...5,606,904
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 chr10:5,825,663...5,922,412
Ensembl chr10:5,825,663...5,922,400
JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
DNA:mutations:multiple:
ClinVar Annotator: match by OMIM:610743
OMIM
ClinVar
PMID:17159980, PMID:17503513, PMID:17761684, PMID:18414213, PMID:21572417, PMID:22287014, PMID:23325900, PMID:23352163, PMID:23959263, PMID:24033266, PMID:24123366, PMID:24123876, PMID:24892279, PMID:25133958, PMID:25214167, PMID:25401298, PMID:25741868, PMID:25843669, PMID:25976027, PMID:26467025, PMID:26539891, PMID:26770814, PMID:26870756, PMID:27066551, PMID:27086870, PMID:27197992, PMID:27305979, PMID:27782104, PMID:28017257, PMID:28074886, PMID:28178086, PMID:28492532, PMID:28687974, PMID:28750076, PMID:28798025, PMID:29482223, PMID:29625556, PMID:29961767, PMID:30029642, PMID:30275942, PMID:30311386, PMID:30564623, PMID:30573412, PMID:27086870 RGD:13209001 NCBI chr10:5,020,192...5,550,692
Ensembl chr10:5,020,917...5,551,482
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 chr11:98,383,811...98,384,953
Ensembl chr11:98,383,811...98,384,953
JBrowse link
G Vip vasoactive intestinal polypeptide ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr10:5,639,193...5,647,617
Ensembl chr10:5,639,218...5,647,617
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 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 OMIM
ClinVar
PMID:27683825, PMID:29718187, PMID:30885959 NCBI chr 4:108,328,152...108,340,718
Ensembl chr 4:108,328,140...108,341,544
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 ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome
ClinVar Annotator: match by term: Boucher Neuhauser syndrome
ClinVar Annotator: match by OMIM:215470
OMIM
ClinVar
PMID:9321767, PMID:24355708, PMID:25033069, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:3,515,235...3,544,267
Ensembl chr 8:3,515,384...3,544,267
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, alpha 3 polypeptide ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
ClinVar
OMIM
PMID:2842249, PMID:8496742, PMID:8733056, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:20576601, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24523486, PMID:24631656, PMID:24739246, PMID:24793181, PMID:24842602, PMID:24996492, PMID:25056583, PMID:25326637, PMID:25359261, PMID:25447930, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26453127, PMID:26633545, PMID:26993267, PMID:27091223, PMID:27268479, PMID:27634470, PMID:27726050, PMID:28293679, PMID:28441826, PMID:28492532, PMID:28500446, PMID:28708303, PMID:28849312, PMID:29066118, PMID:29184165, PMID:29305691, PMID:29397530, PMID:30071271, PMID:30311386, PMID:30657467, PMID:32581362, PMID:24468074 RGD:11576280 NCBI chr 7:24,978,167...25,006,077
Ensembl chr 7:24,978,167...25,005,958
JBrowse link
Cayman type cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atcay ataxia, cerebellar, Cayman type ISO
IEA
ClinVar Annotator: match by term: Cerebellar ataxia, cayman type
ClinVar Annotator: match by term: Cerebellar ataxia, Cayman type
OMIM:601238
ClinVar Annotator: match by OMIM:601238
OMIM
ClinVar
MouseDO
PMID:14556008, PMID:28492532 NCBI chr10:81,204,504...81,230,845
Ensembl chr10:81,204,508...81,230,833
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, sub-family D (ALD), 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:73,716,597...73,738,534
Ensembl chr  X:73,716,597...73,738,534
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 2:27,079,336...27,108,981
Ensembl chr 2:27,079,379...27,108,981
JBrowse link
G Aga aspartylglucosaminidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:53,511,683...53,523,422
Ensembl chr 8:53,511,727...53,523,421
JBrowse link
G Aifm1 apoptosis-inducing factor, mitochondrion-associated 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:48,474,944...48,513,563
Ensembl chr  X:48,474,944...48,513,563
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 chr 7:51,510,007...51,598,707
Ensembl chr 7:51,511,029...51,598,709
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:23680767, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Atcay ataxia, cerebellar, Cayman type susceptibility ISO RGD PMID:14556008 RGD:1599348 NCBI chr10:81,204,504...81,230,845
Ensembl chr10:81,204,508...81,230,833
JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12810666, PMID:25741868, PMID:28492532 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 7:24,978,167...25,006,077
Ensembl chr 7:24,978,167...25,005,958
JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:106,027,224...106,128,161
Ensembl chr  X:106,027,276...106,124,926
JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide 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 chr 8:21,992,783...22,060,074
Ensembl chr 8:21,992,785...22,060,305
JBrowse link
G Atxn1 ataxin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr13:45,549,755...45,964,991
Ensembl chr13:45,549,755...45,965,008
JBrowse link
G Atxn10 ataxin 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr15:85,336,255...85,463,837
Ensembl chr15:85,336,245...85,463,212
JBrowse link
G Atxn7 ataxin 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr14:13,961,283...14,107,316
Ensembl chr14:13,961,440...14,107,302
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 chr 5:149,678,100...149,762,599
Ensembl chr 5:149,678,230...149,762,599
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 (human) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:17160889, PMID:23591405, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30614526 NCBI chr 3:37,312,547...37,321,450
Ensembl chr 3:37,312,554...37,321,453
JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr14:31,641,057...31,668,197
Ensembl chr14:31,641,028...31,668,579
JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO
IEA
ClinVar Annotator: match by term: Cerebellar ataxia ClinVar
MouseDO
PMID:15173248, PMID:25741868, PMID:26467025, PMID:27066515, PMID:27400454, PMID:28492532 NCBI chr 8:84,338,631...84,640,251
Ensembl chr 8:84,338,639...84,640,246
JBrowse link
G Cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr11:94,408,391...94,474,400
Ensembl chr11:94,408,391...94,474,198
JBrowse link
G Cacng2 calcium channel, voltage-dependent, gamma subunit 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr15:77,991,919...78,120,220
Ensembl chr15:77,991,748...78,120,028
JBrowse link
G Car8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:8,141,493...8,239,041
Ensembl chr 4:8,143,362...8,239,041
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 chr17:31,612,623...31,637,233
Ensembl chr17:31,608,894...31,637,238
JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr12:100,911,519...101,029,351
Ensembl chr12:100,911,523...101,029,056
JBrowse link
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:70,216,855...70,410,435
Ensembl chr 4:70,216,856...70,410,443
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr 4:153,975,126...154,008,732
Ensembl chr 4:153,975,194...154,008,732
JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr15:89,426,349...89,429,927
Ensembl chr15:89,426,360...89,429,908
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 2:32,363,007...32,378,313
Ensembl chr 2:32,352,327...32,380,970
JBrowse link
G Clcn2 chloride channel, voltage-sensitive 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr16:20,702,435...20,717,746
Ensembl chr16:20,702,964...20,717,746
JBrowse link
G Cnnm2 cyclin M2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr19:46,756,834...46,878,580
Ensembl chr19:46,761,596...46,880,192
JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr12:31,654,819...31,937,630
Ensembl chr12:31,654,869...31,937,630
JBrowse link
G Cog7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:121,922,836...121,981,719
Ensembl chr 7:121,879,363...121,981,711
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr 1:180,165,238...180,196,020
Ensembl chr 1:180,165,238...180,199,602
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 1:161,037,580...161,070,668
Ensembl chr 1:161,040,601...161,070,658
JBrowse link
G Dctn1 dynactin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:83,165,909...83,200,118
Ensembl chr 6:83,165,920...83,200,117
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 2:32,308,471...32,353,349
Ensembl chr 2:32,308,471...32,353,338
JBrowse link
G Dnmt1 DNA methyltransferase (cytosine-5) 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:20,907,206...20,959,888
Ensembl chr 9:20,907,209...20,959,888
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 chr12:110,601,395...110,666,944
Ensembl chr12:110,601,452...110,666,945
JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Fars2 phenylalanine-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr13:36,117,428...36,537,595
Ensembl chr13:36,117,412...36,726,280
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 chr10:41,188,172...41,303,241
Ensembl chr10:41,188,172...41,303,260
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:68,678,536...68,717,963
Ensembl chr  X:68,678,541...68,717,963
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:11151421, PMID:28492532, PMID:30311386 NCBI chr12:98,202,287...98,259,459
Ensembl chr12:98,202,294...98,259,459
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 9:77,754,535...77,794,489
Ensembl chr 9:77,754,535...77,794,485
JBrowse link
G Gcsh glycine cleavage system protein H (aminomethyl carrier) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:116,981,967...116,993,498
Ensembl chr 8:116,981,810...116,993,537
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:101,376,376...101,385,629
Ensembl chr  X:101,376,378...101,385,629
JBrowse link
G Gm4756 predicted gene 4756 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr12:72,620,119...72,629,021
Ensembl chr12:72,576,002...72,649,661
JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:135,713,221...136,173,615
Ensembl chr 6:135,713,233...136,173,511
JBrowse link
G Grm1 glutamate receptor, metabotropic 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr10:10,686,059...11,082,382
Ensembl chr10:10,686,059...11,082,356
JBrowse link
G Hars histidyl-tRNA synthetase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532 NCBI chr18:36,766,528...36,783,205
Ensembl chr18:36,766,528...36,783,205
JBrowse link
G Hexa hexosaminidase A 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 chr 9:59,539,540...59,565,109
Ensembl chr 9:59,539,540...59,565,109
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532, PMID:30311386 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
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 chr11:70,688,361...70,700,285
Ensembl chr11:70,688,361...70,700,155
JBrowse link
G Inf2 inverted formin, FH2 and WH2 domain containing ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr12:112,588,744...112,615,557
Ensembl chr12:112,588,784...112,615,557
JBrowse link
G Itch itchy, E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 2:155,133,481...155,226,855
Ensembl chr 2:155,133,509...155,226,855
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:108,213,083...108,551,116
Ensembl chr 6:108,213,096...108,551,109
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19289823, PMID:19420365, PMID:20651251, PMID:20807765, PMID:32581362 NCBI chr 1:172,341,210...172,374,085
Ensembl chr 1:172,341,210...172,374,085
JBrowse link
G Kcnn2 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr18:45,268,750...45,685,887
Ensembl chr18:45,268,860...45,686,024
JBrowse link
G Kcnq2 potassium voltage-gated channel, subfamily Q, member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 2:181,075,579...181,135,580
Ensembl chr 2:181,075,579...181,135,300
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:32581362 NCBI chr11:70,700,396...70,731,970
Ensembl chr11:70,700,548...70,731,964
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr12:69,690,436...69,724,874
Ensembl chr12:69,690,433...69,724,873
JBrowse link
G Larp7 La ribonucleoprotein domain family, member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:127,536,714...127,553,349
Ensembl chr 3:127,536,714...127,553,349
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:74,026,592...74,085,690
Ensembl chr  X:74,026,592...74,135,363
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 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
JBrowse link
G Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334, PMID:23851226, PMID:25741868 NCBI chr15:88,955,884...88,982,693
Ensembl chr15:88,955,884...88,979,007
JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial 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:7,927...8,607
Ensembl chr MT:7,927...8,607
JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390
JBrowse link
G mt-Te tRNA glutamic acid, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr MT:14,071...14,139
Ensembl chr MT:14,071...14,139
JBrowse link
G Myh14 myosin, heavy polypeptide 14 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:44,605,803...44,670,872
Ensembl chr 7:44,605,803...44,670,843
JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:11,048,991...11,076,237
Ensembl chr 4:11,051,045...11,076,205
JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:63,143,592...63,176,822
Ensembl chr 1:63,143,596...63,176,833
JBrowse link
G Nefl neurofilament, light polypeptide 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 chr14:68,083,863...68,089,095
Ensembl chr14:68,083,863...68,089,095
JBrowse link
G Nek1 NIMA (never in mitosis gene a)-related expressed kinase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:60,993,157...61,131,349
Ensembl chr 8:60,993,195...61,131,346
JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr12:56,531,935...56,536,908
Ensembl chr12:56,531,958...56,536,908
JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 2:130,274,367...130,279,313
Ensembl chr 2:130,274,430...130,279,313
JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr12:52,097,746...52,310,970
Ensembl chr12:52,097,737...52,312,744
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:29,579,281...29,663,127
Ensembl chr16:29,579,334...29,654,884
JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:10,252,230...10,321,024
Ensembl chr  X:10,252,305...10,321,024
JBrowse link
G Pccb propionyl Coenzyme A carboxylase, beta polypeptide ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 9:100,982,032...101,034,940
Ensembl chr 9:100,982,032...101,034,898
JBrowse link
G Pde8b phosphodiesterase 8B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr13:95,024,105...95,250,401
Ensembl chr13:95,024,454...95,250,336
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr18:63,010,213...63,387,716
Ensembl chr18:63,010,213...63,387,183
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9140401, PMID:9497260, PMID:9781039, PMID:10386614, PMID:10527672, PMID:10602363, PMID:10854097, PMID:10922383, PMID:11058895, PMID:11134235, PMID:11343337, PMID:11517108, PMID:11916319, PMID:15844218, PMID:17166182, PMID:19357119, PMID:20301289, PMID:21541725, PMID:24033266, PMID:24498599, PMID:25355454, PMID:25741868, PMID:26014514, PMID:26488408, PMID:26805780, PMID:28373276, PMID:28425223, PMID:28492532, PMID:28940310, PMID:30740725, PMID:32581362, PMID:32860008 NCBI chr16:8,637,613...8,657,608
Ensembl chr16:8,637,674...8,662,467
JBrowse link
G Polg polymerase (DNA directed), gamma ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: RGD PMID:20803511 RGD:8694192 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr10:84,622,292...84,727,178
Ensembl chr10:84,622,292...84,727,178
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 2:32,236,590...32,255,005
Ensembl chr 2:32,236,590...32,255,005
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:3,303,532...3,331,099
Ensembl chr 7:3,289,179...3,331,099
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 7:27,499,305...27,520,041
Ensembl chr 7:27,497,388...27,520,214
JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:27129381, PMID:28328138 NCBI chr11:86,684,074...86,692,457
Ensembl chr11:86,683,985...86,692,457
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:48,513,663...48,530,240
Ensembl chr  X:48,519,285...48,530,232
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr11:60,104,917...60,199,197
Ensembl chr11:60,105,013...60,199,197
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:21,884,454...22,344,705
Ensembl chr 5:21,884,454...22,344,702
JBrowse link
G Rfc1 replication factor C (activator 1) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr 5:65,261,852...65,338,617
Ensembl chr 5:65,261,850...65,335,670
JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262
JBrowse link
G Rpl27a ribosomal protein L27A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 7:109,519,195...109,522,369
Ensembl chr 7:109,519,147...109,522,367
JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia
CTD
ClinVar
PMID:16236810, PMID:25741868 NCBI chr15:100,869,863...101,045,938
Ensembl chr15:100,869,858...101,045,938
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 5:52,640,089...52,669,764
Ensembl chr 5:52,640,087...52,669,708
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:26467025 NCBI chr 2:29,123,588...29,182,471
Ensembl chr 2:29,124,181...29,182,471
JBrowse link
G Slc12a1 solute carrier family 12, member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 2:125,152,510...125,230,002
Ensembl chr 2:125,152,505...125,230,002
JBrowse link
G Slc20a2 solute carrier family 20, member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:22,476,700...22,569,616
Ensembl chr 8:22,476,788...22,569,612
JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 4:119,108,745...119,137,330
Ensembl chr 4:119,108,711...119,137,983
JBrowse link
G Slc33a1 solute carrier family 33 (acetyl-CoA transporter), member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:63,942,323...63,964,733
Ensembl chr 3:63,933,507...63,964,768
JBrowse link
G Slc6a19 solute carrier family 6 (neurotransmitter transporter), member 19 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr13:73,679,745...73,700,780
Ensembl chr13:73,679,745...73,704,865
JBrowse link
G Snx14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25848753 NCBI chr 9:88,376,755...88,438,929
Ensembl chr 9:88,376,750...88,438,958
Ensembl chr 9:88,376,750...88,438,958
JBrowse link
G Spg20 spastic paraplegia 20, spartin (Troyer syndrome) homolog (human) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:25741868 NCBI chr 3:55,112,108...55,137,332
Ensembl chr 3:55,112,108...55,137,322
JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr19:4,711,208...4,753,978
Ensembl chr19:4,711,167...4,752,360
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr12:87,305,058...87,388,355
Ensembl chr12:87,305,058...87,388,355
JBrowse link
G Surf1 surfeit gene 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 2:26,913,378...26,916,610
Ensembl chr 2:26,913,381...26,916,530
JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia
DNA:nonsense, missense mutations:introns,exons:
ClinVar PMID:26467025, PMID:28492532, PMID:30311386, PMID:17503513 RGD:13209009 NCBI chr10:5,020,192...5,550,692
Ensembl chr10:5,020,917...5,551,482
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 homolog (rat) ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr17:26,941,212...26,972,434
Ensembl chr17:26,941,253...26,972,434
JBrowse link
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr13:24,831,659...24,842,153
Ensembl chr13:24,831,679...24,842,153
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:130,112,416...130,154,233
Ensembl chr 2:130,112,416...130,154,232
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:142,892,779...142,899,995
Ensembl chr 7:142,892,752...142,931,128
JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:18953340, PMID:20937241, PMID:21815885, PMID:22433607, PMID:24485043, PMID:25741868, PMID:26550569, PMID:28492532, PMID:30311386 NCBI chr 1:16,665,191...16,678,275
Ensembl chr 1:16,665,207...16,678,275
JBrowse link
G Trip12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:84,721,189...84,850,004
Ensembl chr 1:84,721,189...84,840,516
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 chr11:115,813,728...115,823,102
Ensembl chr11:115,814,724...115,823,094
JBrowse link
G Vps13a vacuolar protein sorting 13A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr19:16,615,366...16,781,071
Ensembl chr19:16,615,366...16,780,933
JBrowse link
G Zdhhc9 zinc finger, DHHC domain containing 9 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:17436253, PMID:29681091, PMID:30311386 NCBI chr  X:48,171,967...48,208,702
Ensembl chr  X:48,171,969...48,208,878
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 Fanconi anemia, 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 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Polg polymerase (DNA directed), gamma 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 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
cerebellar ataxia type 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 41 OMIM
ClinVar
PMID:25477146 NCBI chr 3:36,620,482...36,690,429
Ensembl chr 3:36,620,482...36,690,167
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 channel, voltage-dependent, T type, alpha 1G subunit ISO
IEA
ClinVar Annotator: match by term: Spinocerebellar ataxia 42
OMIM:616795
ClinVar
MouseDO
OMIM
PMID:25741868, PMID:26456284, PMID:26715324, PMID:28492532, PMID:32860008 NCBI chr11:94,408,391...94,474,400
Ensembl chr11:94,408,391...94,474,198
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 metallo endopeptidase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 43 ClinVar
OMIM
PMID:25741868, PMID:27583304 NCBI chr 3:63,295,211...63,383,713
Ensembl chr 3:63,241,537...63,386,030
JBrowse link
cerebellar ataxia type 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pum1 pumilio RNA-binding family member 1 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 47 ClinVar
OMIM
PMID:25741868, PMID:29474920 NCBI chr 4:130,663,238...130,781,564
Ensembl chr 4:130,663,321...130,781,564
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 chr17:25,829,043...25,831,843
Ensembl chr17:25,828,867...25,831,843
JBrowse link
G Stub1 STIP1 homology and U-Box containing protein 1 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 48 ClinVar
OMIM
PMID:30381368 NCBI chr17:25,830,634...25,832,919
Ensembl chr17:25,830,505...25,833,404
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, aminophospholipid transporter-like, class I, type 8A, member 2 IEA OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr14:59,647,531...60,086,914
Ensembl chr14:59,638,540...60,197,179
JBrowse link
G Car8 carbonic anhydrase 8 IEA
ISS
OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr 4:8,141,493...8,239,041
Ensembl chr 4:8,143,362...8,239,041
JBrowse link
G LOC108168164 uncharacterized LOC108168164 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysequilibrium syndrome
CTD
ClinVar
PMID:25741868 NCBI chr14:60,186,158...60,197,210
Ensembl chr14:59,638,540...60,197,179
JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by OMIM:224050
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
ClinVar
CTD
PMID:18326629, PMID:18364738, PMID:25741868 NCBI chr19:27,216,480...27,254,231
Ensembl chr19:27,216,484...27,254,231
JBrowse link
G Wdr81 WD repeat domain 81 ISS OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr11:75,440,943...75,454,808
Ensembl chr11:75,440,944...75,454,717
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
ClinVar
OMIM
PMID:11913577, PMID:16080122, PMID:18043714, PMID:18326629, PMID:18364738, PMID:18414213, PMID:22700954, PMID:22973972, PMID:25741868, PMID:28492532 NCBI chr19:27,216,480...27,254,231
Ensembl chr19:27,216,484...27,254,231
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
ClinVar Annotator: match by OMIM:610185
OMIM
ClinVar
PMID:16371500, PMID:21885617, PMID:25558065, PMID:25741868, PMID:26437881, PMID:28097321, PMID:28492532, PMID:28969387 NCBI chr11:75,440,943...75,454,808
Ensembl chr11:75,440,944...75,454,717
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 Car8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
ClinVar Annotator: match by OMIM:613227
OMIM
ClinVar
PMID:19461874, PMID:21937992, PMID:25741868 NCBI chr 4:8,141,493...8,239,041
Ensembl chr 4:8,143,362...8,239,041
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 LOC108168164 uncharacterized LOC108168164 ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
ClinVar Annotator: match by OMIM:615268
OMIM
ClinVar
PMID:18326629, PMID:22892528, PMID:22912588, PMID:25590979, PMID:25741868, PMID:27679995, PMID:28454995 NCBI chr14:60,186,158...60,197,210
Ensembl chr14:59,638,540...60,197,179
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 factor 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar NCBI chr 3:51,252,720...51,340,683
Ensembl chr 3:51,252,720...51,340,663
JBrowse link
G Rfc1 replication factor C (activator 1) 1 ISO OMIM NCBI chr 5:65,261,852...65,338,617
Ensembl chr 5:65,261,850...65,335,670
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 polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Cerebellar hypoplasia with endosteal sclerosis ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr10:84,622,292...84,727,178
Ensembl chr10:84,622,292...84,727,178
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 90 kDa subunit ISO ClinVar Annotator: match by term: cerebellar-facial-dental syndrome
ClinVar Annotator: match by term: Cerebellofaciodental syndrome
ClinVar
OMIM
PMID:25561519, PMID:25741868 NCBI chr12:112,955,631...113,000,706
Ensembl chr12:112,960,085...113,000,704
JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfy1 ankyrin repeat and FYVE domain containing 1 IEA OMIM:270550 MouseDO NCBI chr11:72,690,002...72,772,146
Ensembl chr11:72,690,006...72,772,146
JBrowse link
G Sacs sacsin ISO
IEA
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
OMIM:270550
ClinVar Annotator: match by OMIM:270550
OMIM
ClinVar
MouseDO
PMID:8472930, PMID:9892370, PMID:10610707, PMID:10655055, PMID:11788093, PMID:12873855, PMID:14718706, PMID:14718708, PMID:15156359, PMID:15486997, PMID:15985586, PMID:16007637, PMID:16606928, PMID:16944349, PMID:16961075, PMID:17516465, PMID:17683082, PMID:17846221, PMID:18414213, PMID:18439928, PMID:18465152, PMID:18569450, PMID:18604465, PMID:19208651, PMID:19779133, PMID:19892370, PMID:20301432, PMID:20368637, PMID:20798953, PMID:20852969, PMID:20876471, PMID:21450511, PMID:21507954, PMID:21665375, PMID:21745802, PMID:21993619, PMID:22287014, PMID:22441213, PMID:22751902, PMID:22816526, PMID:22892508, PMID:23043354, PMID:23250129, PMID:23280630, PMID:23338241, PMID:23497566, PMID:23598833, PMID:24033266, PMID:24180463, PMID:24318559, PMID:24384335, PMID:24457356, PMID:25237835, PMID:25401298, PMID:25405613, PMID:25497598, PMID:25741868, PMID:25819952, PMID:25887915, PMID:26010040, PMID:26068213, PMID:26288984, PMID:26302956, PMID:26366743, PMID:26410750, PMID:26467025, PMID:26539891, PMID:27217339, PMID:27288452, PMID:27433545, PMID:27871429, PMID:27980752, PMID:28251916, PMID:28362824, PMID:28454995, PMID:28491899, PMID:28492532, PMID:28535259, PMID:28641335, PMID:28658401, PMID:28832565, PMID:29220673, PMID:29379980, PMID:29389947, PMID:29417091, PMID:29453517, PMID:29482223, PMID:29538656, PMID:29858556, PMID:29915382, PMID:29968200, PMID:30680480, PMID:32488064 NCBI chr14:61,138,421...61,240,693
Ensembl chr14:61,138,457...61,240,695
JBrowse link
G Sgcg sarcoglycan, gamma (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr14:61,219,106...61,275,062
Ensembl chr14:61,219,115...61,258,490
JBrowse link
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus OMIM
ClinVar
PMID:25466870 NCBI chr14:118,937,932...118,981,702
Ensembl chr14:118,937,976...118,981,697
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 4:101,496,648...101,642,799
Ensembl chr 4:101,496,631...101,642,799
JBrowse link
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA ClinVar
OMIM
PMID:25388005 NCBI chr 2:4,017,650...4,614,043
Ensembl chr 2:4,017,717...4,614,043
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 chr 6:124,742,544...124,756,487
Ensembl chr 6:124,742,544...124,756,524
Ensembl chr 6:124,742,544...124,756,524
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 channel, voltage-dependent, beta 4 subunit ISO ClinVar Annotator: match by term: Episodic ataxia, type 5 OMIM
ClinVar
PMID:10762541, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:52,428,320...52,676,609
Ensembl chr 2:52,428,320...52,676,831
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 (glial high affinity glutamate transporter), member 3 ISO ClinVar Annotator: match by term: Episodic ataxia, type 6
ClinVar Annotator: match by OMIM:612656
OMIM
ClinVar
PMID:16116111, PMID:19139306, PMID:23107647, PMID:24214974, PMID:25497598, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr15:8,634,124...8,710,807
Ensembl chr15:8,634,124...8,710,764
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 channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by OMIM:141500
ClinVar Annotator: match by term: Familial hemiplegic migraine type 1
ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1564484, PMID:3358708, PMID:7537420, PMID:8734765, PMID:8898206, PMID:8988170, PMID:9005860, PMID:9302278, PMID:9403487, PMID:9436730, PMID:9488686, PMID:9559993, PMID:9879686, PMID:9915947, PMID:10024348, PMID:10408532, PMID:10408534, PMID:10734061, PMID:10987655, PMID:11061267, PMID:11176968, PMID:11179022, PMID:11409427, PMID:11439943, PMID:11564488, PMID:11723274, PMID:11814735, PMID:11960817, PMID:11971066, PMID:11985388, PMID:12056940, PMID:12111613, PMID:12707077, PMID:12756131, PMID:14718690, PMID:15032980, PMID:15240985, PMID:15300451, PMID:15452324, PMID:15483044, PMID:15710862, PMID:15795222, PMID:16043807, PMID:16325861, PMID:16595610, PMID:16866717, PMID:17142831, PMID:17495624, PMID:17575281, PMID:18056581, PMID:18313928, PMID:18400034, PMID:18498393, PMID:18541804, PMID:18644040, PMID:18940563, PMID:19484318, PMID:19586927, PMID:19811514, PMID:20097664, PMID:20129625, PMID:20156848, PMID:20204399, PMID:20233618, PMID:20682717, PMID:21183743, PMID:22000314, PMID:22190617, PMID:22249839, PMID:22527033, PMID:22784462, PMID:22969264, PMID:23441182, PMID:23771276, PMID:23831250, PMID:23934111, PMID:23961289, PMID:24270521, PMID:24486772, PMID:24498617, PMID:24849341, PMID:25266619, PMID:25274239, PMID:25326635, PMID:25735478, PMID:25741868, PMID:25758715, PMID:25969684, PMID:26467025, PMID:26814174, PMID:27066515, PMID:27290639, PMID:27476654, PMID:28007337, PMID:28169007, PMID:28492532, PMID:28742085, PMID:28978442, PMID:29056246, PMID:29100083, PMID:30063100, PMID:30283815, PMID:30311386, PMID:97053792 NCBI chr 8:84,338,631...84,640,251
Ensembl chr 8:84,338,639...84,640,246
JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO
IEA
DNA:point mutation:exon:p.G130V
ClinVar Annotator: match by term: Friedreich's ataxia
CTD Direct Evidence: marker/mechanism
OMIM:229300 | OMIM:601992
ClinVar Annotator: match by synonym: Friedreich's ataxia
DNA:repeat:intron:GAA (human)
ClinVar
CTD
MouseDO
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, PMID:10543403, PMID:8596916 RGD:1598961, RGD:1582636 NCBI chr19:24,259,545...24,280,590
Ensembl chr19:24,261,453...24,280,605
JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO DNA:missense mutation:cds:m.3696C>T (human) RGD PMID:18807169 RGD:5490251 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
JBrowse link
Friedreich ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO ClinVar Annotator: match by term: Friedreich ataxia 1 OMIM
ClinVar
PMID:26467025 NCBI chr19:24,259,545...24,280,590
Ensembl chr19:24,261,453...24,280,605
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 1 ISO ClinVar Annotator: match by term: Gillespie syndrome ClinVar
OMIM
PMID:7952360, PMID:11445634, PMID:12611586, PMID:14981189, PMID:17030759, PMID:17558851, PMID:17590087, PMID:18579805, PMID:21367767, PMID:22986007, PMID:23495097, PMID:25574826, PMID:25741868, PMID:25794864, PMID:26770814, PMID:27062503, PMID:27108797, PMID:27108798, PMID:27862915, PMID:28488678, PMID:28659154, PMID:29169895, PMID:29925855, PMID:32499604 NCBI chr 6:108,213,083...108,551,116
Ensembl chr 6:108,213,096...108,551,109
JBrowse link
Gordon Holmes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf216 ring finger protein 216 ISO ClinVar Annotator: match by term: Gordon Holmes syndrome
ClinVar Annotator: match by OMIM:212840
OMIM
ClinVar
PMID:11932290, PMID:23656588, PMID:25741868, PMID:25841028 NCBI chr 5:142,990,893...143,113,041
Ensembl chr 5:142,990,893...143,112,994
JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
ClinVar Annotator: match by OMIM:117300
OMIM
ClinVar
PMID:5457846, PMID:10781099, PMID:25741868 NCBI chr14:73,362,226...73,385,289
Ensembl chr14:73,362,226...73,385,289
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 CTD Direct Evidence: marker/mechanism
protein:increased degradation, altered localization:neuron, nucleus
ClinVar Annotator: match by term: Azorean disease
OMIM
CTD
ClinVar
PMID:31378764, PMID:18841197, PMID:18385100, PMID:9804376, PMID:20308049, PMID:7874163 RGD:11558010, RGD:5131159, RGD:11557998, RGD:11557997, RGD:1599419 NCBI chr12:101,918,901...101,959,121
Ensembl chr12:101,918,901...101,958,246
JBrowse link
G Becn1 beclin 1, autophagy related IEP
ISO
protein:decreased expression:brain
protein:decreased expression:fibroblast
RGD PMID:21478185, PMID:21478185 RGD:6483072, RGD:6483072 NCBI chr11:101,288,258...101,302,286
Ensembl chr11:101,285,952...101,302,286
JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO protein:increased expression:serum RGD PMID:21743141 RGD:5508762 NCBI chr10:76,253,836...76,261,319
Ensembl chr10:76,253,853...76,261,159
JBrowse link
G Slc18a2 solute carrier family 18 (vesicular monoamine), member 2 ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr19:59,260,878...59,296,012
Ensembl chr19:59,260,896...59,296,012
JBrowse link
G Th tyrosine hydroxylase ISO protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr 7:142,892,779...142,899,995
Ensembl chr 7:142,892,752...142,931,128
JBrowse link
Marinesco-Sjogren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sil1 endoplasmic reticulum chaperone SIL1 homolog (S. cerevisiae) ISS
ISO
OMIM:248800
ClinVar Annotator: match by term: Marinesco-Sjögren syndrome
MouseDO
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 chr18:35,266,396...35,499,390
Ensembl chr18:35,266,396...35,499,780
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 polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS
ClinVar Annotator: match by term: Spinocerebellar ataxia infantile with sensory neuropathy
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
ClinVar Annotator: match by OMIM:271245
OMIM
ClinVar
PMID:16135556, PMID:17614277, PMID:17722119, PMID:17921179, PMID:20479361, PMID:20659899, PMID:21689831, PMID:22353293, PMID:22928142, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:29458409 NCBI chr19:45,005,663...45,012,764
Ensembl chr19:45,005,663...45,012,762
JBrowse link
Myelocerebellar Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9l sterile alpha motif domain containing 9-like ISO ClinVar Annotator: match by term: Myelocerebellar disorder
ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome
ClinVar
OMIM
PMID:283689, PMID:25741868, PMID:27259050, PMID:28202457, PMID:28570036 NCBI chr 6:3,372,257...3,399,571
Ensembl chr 6:3,372,257...3,399,572
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 1700012P22Rik RIKEN cDNA 1700012P22 gene ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 4:144,418,189...144,438,793
Ensembl chr 4:144,418,189...144,438,772
JBrowse link
G Aadacl3 arylacetamide deacetylase like 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 4:144,453,771...144,463,756
Ensembl chr 4:144,453,771...144,463,756
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 4:144,613,707...144,623,398
Ensembl chr 4:144,613,707...144,623,398
JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation OMIM
ClinVar
PMID:22693284, PMID:24738973, PMID:25326637, PMID:25741868, PMID:28492532, PMID:28708303 NCBI chr 4:151,059,523...151,861,768
Ensembl chr 4:150,917,322...151,861,876
JBrowse link
G Dhrs3 dehydrogenase/reductase (SDR family) member 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 4:144,892,534...144,928,209
Ensembl chr 4:144,892,827...144,928,209
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
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 4:147,860,778...147,868,719
Ensembl chr 4:147,860,778...147,868,816
JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr13:13,437,602...13,512,275
Ensembl chr13:13,437,551...13,512,269
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 4:147,909,753...147,936,776
Ensembl chr 4:147,909,753...147,936,767
JBrowse link
G Pramel13 PRAME like 13 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 4:144,391,674...144,408,467
Ensembl chr 4:144,391,674...144,408,464
JBrowse link
G Prdm16 PR domain containing 16 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 4:154,316,122...154,637,360
Ensembl chr 4:154,316,125...154,636,873
JBrowse link
G Slc9a1 solute carrier family 9 (sodium/hydrogen exchanger), member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 4:133,369,711...133,423,702
Ensembl chr 4:133,369,706...133,423,702
JBrowse link
G Smyd3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 1:178,951,960...179,518,053
Ensembl chr 1:178,951,960...179,518,041
JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 4:145,212,368...145,246,870
Ensembl chr 4:145,213,463...145,246,870
JBrowse link
G Tnfrsf8 tumor necrosis factor receptor superfamily, member 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 4:145,267,132...145,315,164
Ensembl chr 4:145,267,137...145,315,164
JBrowse link
G Vps13d vacuolar protein sorting 13D ISO ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation ClinVar PMID:25741868 NCBI chr 4:144,871,045...145,195,037
Ensembl chr 4:144,972,622...145,195,005
JBrowse link
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42bpa CDC42 binding protein kinase alpha ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar PMID:24164873 NCBI chr 1:179,960,079...180,165,606
Ensembl chr 1:179,960,472...180,165,603
JBrowse link
G Coq8a coenzyme Q8A ISO
IEA
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4
OMIM:612016
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9
ClinVar Annotator: match by OMIM:612016
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074, PMID:18414213, PMID:20495179, PMID:22036850, PMID:24033266, PMID:24164873, PMID:24218524, PMID:25131622, PMID:25280894, PMID:25356970, PMID:25498144, PMID:25558065, PMID:25741868, PMID:26467025, PMID:26640698, PMID:27106809, PMID:28125198, PMID:28492532, PMID:30311386 NCBI chr 1:180,165,238...180,196,020
Ensembl chr 1:180,165,238...180,199,602
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
IEA
ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly
OMIM:266920
ClinVar Annotator: match by OMIM:266920
OMIM
ClinVar
MouseDO
PMID:22503633, PMID:23418020, PMID:24009529, PMID:24698627, PMID:25741868, PMID:26216056, PMID:26359340, PMID:26766544, PMID:26968735, PMID:27058611, PMID:28041643, PMID:28288023, PMID:28492532, PMID:28559085, PMID:28724397, PMID:28991257, PMID:29068549, PMID:29688594, PMID:32860008 NCBI chr17:25,016,083...25,099,499
Ensembl chr17:25,016,085...25,099,495
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 chr17:25,120,697...25,125,293
Ensembl chr17:25,120,760...25,125,292
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 chr17:25,099,569...25,115,974
Ensembl chr17:25,099,570...25,115,967
JBrowse link
spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3-like AAA ATPase 2 onset ISO DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) RGD PMID:22022284 RGD:11532672 NCBI chr18:67,404,764...67,449,192
Ensembl chr18:67,404,764...67,449,172
JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868, PMID:26467025 NCBI chr 8:84,338,631...84,640,251
Ensembl chr 8:84,338,639...84,640,246
JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:30311386 NCBI chr 2:28,555,819...28,563,403
Ensembl chr 2:28,555,795...28,563,403
JBrowse link
G Hars histidyl-tRNA synthetase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr18:36,766,528...36,783,205
Ensembl chr18:36,766,528...36,783,205
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr11:70,688,361...70,700,285
Ensembl chr11:70,688,361...70,700,155
JBrowse link
G Kcnma1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr14:23,292,288...24,005,110
Ensembl chr14:23,289,431...24,014,491
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr11:70,700,396...70,731,970
Ensembl chr11:70,700,548...70,731,964
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:17564970, PMID:19177532, PMID:19201763, PMID:21990111, PMID:25439737, PMID:28492532, PMID:30311386 NCBI chr 3:40,818,065...40,846,880
Ensembl chr 3:40,818,103...40,846,886
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 chr 6:125,223,927...125,231,860
Ensembl chr 6:125,223,933...125,231,860
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant OMIM
ClinVar
PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr 6:125,215,581...125,222,306
Ensembl chr 6:125,215,551...125,245,964
JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930544D05Rik RIKEN cDNA 4930544D05 gene ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,615,589...70,616,892
Ensembl chr11:70,615,848...70,616,890
JBrowse link
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,669,463...70,688,145
Ensembl chr11:70,669,463...70,688,105
JBrowse link
G Chrne cholinergic receptor, nicotinic, epsilon polypeptide ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,614,883...70,619,213
Ensembl chr11:70,614,883...70,619,216
JBrowse link
G Eno3 enolase 3, beta muscle ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,653,125...70,662,513
Ensembl chr11:70,657,202...70,662,513
JBrowse link
G Gp1ba glycoprotein 1b, alpha polypeptide ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,639,102...70,643,986
Ensembl chr11:70,639,122...70,642,036
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 chr11:70,688,361...70,700,285
Ensembl chr11:70,688,361...70,700,155
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar Annotator: match by OMIM:611302
OMIM
ClinVar
PMID:17273843, PMID:24088041, PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:26633545, PMID:28492532, PMID:28687974, PMID:28832565 NCBI chr11:70,700,396...70,731,970
Ensembl chr11:70,700,548...70,731,964
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,651,844...70,656,799
Ensembl chr11:70,651,850...70,654,644
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,647,230...70,651,421
Ensembl chr11:70,647,235...70,651,421
JBrowse link
G Slc25a11 solute carrier family 25 (mitochondrial carrier oxoglutarate carrier), member 11 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,644,019...70,647,531
Ensembl chr11:70,644,196...70,647,479
JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,663,769...70,669,416
Ensembl chr11:70,663,771...70,669,416
JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionine-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Ataxia, spastic, 3, autosomal recessive
ClinVar Annotator: match by OMIM:611390
OMIM
ClinVar
PMID:22448145, PMID:25741868 NCBI chr 1:55,237,177...55,240,058
Ensembl chr 1:55,237,177...55,248,470
JBrowse link
G Sacs sacsin ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471, PMID:21450511, PMID:24033266, PMID:24180463 NCBI chr14:61,138,421...61,240,693
Ensembl chr14:61,138,457...61,240,695
JBrowse link
spastic ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Ataxia, spastic, 4, autosomal recessive
ClinVar Annotator: match by OMIM:613672
OMIM
ClinVar
PMID:20970105, PMID:25008111, PMID:25741868, PMID:26467025 NCBI chr18:4,375,589...4,399,888
Ensembl chr18:4,375,592...4,397,330
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 AAA ATPase 2 ISO ClinVar Annotator: match by term: Spastic ataxia 5, autosomal recessive
ClinVar Annotator: match by OMIM:614487
OMIM
ClinVar
PMID:22022284, PMID:25401298, PMID:25741868, PMID:32219868 NCBI chr18:67,404,764...67,449,192
Ensembl chr18:67,404,764...67,449,172
JBrowse link
spastic ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY OMIM
ClinVar
PMID:25741868, PMID:28575651, PMID:30285346, PMID:32860008 NCBI chr 7:139,579,376...139,582,797
Ensembl chr 7:139,579,376...139,582,797
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 chr 2:119,547,707...119,587,024
Ensembl chr 2:119,547,697...119,587,027
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 channel, voltage-dependent, T type, alpha 1G subunit ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS ClinVar
OMIM
PMID:25741868, PMID:29878067 NCBI chr11:94,408,391...94,474,400
Ensembl chr11:94,408,391...94,474,198
JBrowse link
spinocerebellar ataxia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm1 glutamate receptor, metabotropic 1 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 44 ClinVar
OMIM
PMID:28886343 NCBI chr10:10,686,059...11,082,382
Ensembl chr10:10,686,059...11,082,356
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 ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 45 ClinVar
OMIM
PMID:20301317, PMID:25741868, PMID:29053796, PMID:29847346 NCBI chr11:55,250,609...55,337,505
Ensembl chr11:55,250,609...55,336,564
JBrowse link
G Slc36a1 solute carrier family 36 (proton/amino acid symporter), member 1 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 45 ClinVar PMID:20301317, PMID:25741868, PMID:29053796, PMID:29847346 NCBI chr11:55,204,322...55,236,330
Ensembl chr11:55,204,350...55,236,330
JBrowse link
spinocerebellar ataxia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 46 ClinVar
OMIM
PMID:8595484, PMID:24011642, PMID:25741868, PMID:29053796 NCBI chr 7:27,531,367...27,553,229
Ensembl chr 7:27,532,000...27,553,218
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 46 ClinVar PMID:24011642, PMID:25741868 NCBI chr 7:27,499,305...27,520,041
Ensembl chr 7:27,497,388...27,520,214
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 IEA
ISO
OMIM:164400
ClinVar Annotator: match by term: Spinocerebellar ataxia 1
MouseDO
ClinVar
OMIM
PMID:25741868 NCBI chr13:45,549,755...45,964,991
Ensembl chr13:45,549,755...45,965,008
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
IEA
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
OMIM:607250
OMIM
ClinVar
MouseDO
PMID:12244316, PMID:24355542, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr12:99,884,515...99,955,223
Ensembl chr12:99,884,517...99,955,219
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 chr15:85,336,255...85,463,837
Ensembl chr15:85,336,245...85,463,212
JBrowse link
spinocerebellar ataxia type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 11
ClinVar Annotator: match by term: Spinocerebellar ataxia 11
OMIM
ClinVar
PMID:18037885, PMID:19533200, PMID:20301723, PMID:24808823, PMID:25741868, PMID:26063658, PMID:26467025, PMID:28492532 NCBI chr 2:120,732,816...120,850,584
Ensembl chr 2:120,732,816...120,850,604
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 B, beta ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 12 OMIM
ClinVar
PMID:25741868 NCBI chr18:42,645,207...43,059,471
Ensembl chr18:42,637,432...43,059,471
Ensembl chr18:42,637,432...43,059,471
JBrowse link
spinocerebellar ataxia type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnc3 potassium voltage gated channel, Shaw-related subfamily, member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 13
ClinVar Annotator: match by term: Spinocerebellar ataxia 13
ClinVar Annotator: match by OMIM:605259
OMIM
ClinVar
PMID:10820125, PMID:16135769, PMID:16501573, PMID:18592334, PMID:19953606, PMID:20712895, PMID:21543613, PMID:22289912, PMID:22736459, PMID:22933745, PMID:23215817, PMID:23734863, PMID:23912307, PMID:24116147, PMID:25152487, PMID:25497598, PMID:25741868, PMID:25756792, PMID:25981959, PMID:26467025, PMID:28216058, PMID:28467418, PMID:28492532 NCBI chr 7:44,586,939...44,604,751
Ensembl chr 7:44,590,664...44,604,754
JBrowse link
spinocerebellar ataxia type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 14
ClinVar Annotator: match by term: Spinocerebellar ataxia 14
ClinVar Annotator: match by OMIM:605361
OMIM
ClinVar
PMID:9545390, PMID:12164726, PMID:12644968, PMID:14676051, PMID:14694043, PMID:15313841, PMID:15618281, PMID:15824357, PMID:15841389, PMID:15964845, PMID:16189624, PMID:16193476, PMID:16547918, PMID:16649092, PMID:16763984, PMID:17024314, PMID:17562946, PMID:17659643, PMID:18005063, PMID:18499672, PMID:18577575, PMID:19561170, PMID:20301573, PMID:21434874, PMID:21666345, PMID:21937992, PMID:24134140, PMID:24744737, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28738819, PMID:30093405, PMID:30363848 NCBI chr 7:3,303,532...3,331,099
Ensembl chr 7:3,289,179...3,331,099
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 1 ISO DNA:deletions:multiple (human)
ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16
ClinVar Annotator: match by term: Spinocerebellar ataxia 15
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
DNA:deletions:exons, introns:g.4498593_4736400del, 4409618_4851975del (human)
ClinVar
CTD
OMIM
PMID:14981189, PMID:17932120, PMID:18579805, PMID:20669319, PMID:21681106, PMID:22986007, PMID:25741868, PMID:28492532, PMID:21555639, PMID:20082166 RGD:6480683, RGD:6480871 NCBI chr 6:108,213,083...108,551,116
Ensembl chr 6:108,213,096...108,551,109
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 chr 6:108,065,045...108,077,127
Ensembl chr 6:108,065,045...108,077,122
JBrowse link
spinocerebellar ataxia type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5b ATP synthase, H+ transporting mitochondrial F1 complex, beta subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr10:128,083,307...128,090,388
Ensembl chr10:128,083,273...128,090,391
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Hspa5 heat shock protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 2:34,772,090...34,776,529
Ensembl chr 2:34,771,970...34,777,547
JBrowse link
G Hspa8 heat shock protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 9:40,801,276...40,805,202
Ensembl chr 9:40,800,984...40,810,087
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 9:44,379,490...44,392,369
Ensembl chr 9:44,379,490...44,392,369
JBrowse link
G Nqo1 NAD(P)H dehydrogenase, quinone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:107,388,225...107,403,205
Ensembl chr 8:107,388,225...107,403,206
JBrowse link
G P4hb prolyl 4-hydroxylase, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr11:120,560,298...120,573,253
Ensembl chr11:120,560,298...120,573,253
JBrowse link
G Pdia3 protein disulfide isomerase associated 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 2:121,413,902...121,438,687
Ensembl chr 2:121,413,775...121,438,687
JBrowse link
G Tbp TATA box binding protein ISO
IEA
OMIM:607136
ClinVar Annotator: match by term: Spinocerebellar ataxia 17
OMIM
MouseDO
ClinVar
PMID:25741868, PMID:23699518 RGD:9681730 NCBI chr17:15,499,888...15,517,427
Ensembl chr17:15,499,888...15,528,379
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, Shal-related family, member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22
ClinVar Annotator: match by term: Spinocerebellar ataxia 19
ClinVar Annotator: match by OMIM:607346
OMIM
ClinVar
PMID:11284128, PMID:12764052, PMID:15655131, PMID:19889341, PMID:20128157, PMID:20930958, PMID:21349352, PMID:22402074, PMID:22457051, PMID:22840528, PMID:23280837, PMID:23280838, PMID:23838598, PMID:23963749, PMID:25175087, PMID:25410959, PMID:25741868, PMID:25741869, PMID:26016905, PMID:26189493, PMID:26467025, PMID:26633542, PMID:27899622, PMID:28074886, PMID:28341588, PMID:28492532, PMID:28895081, PMID:29482223, PMID:30776697 NCBI chr 3:105,451,890...105,674,002
Ensembl chr 3:105,452,330...105,674,002
JBrowse link
G Lama4 laminin, alpha 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 19 ClinVar PMID:25741868, PMID:28492532 NCBI chr10:38,965,515...39,110,188
Ensembl chr10:38,965,515...39,110,188
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 IEA
ISO
OMIM:183090
ClinVar Annotator: match by term: Spinocerebellar ataxia 2
MouseDO
ClinVar
OMIM
NCBI chr 5:121,711,609...121,814,950
Ensembl chr 5:121,711,337...121,816,493
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 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 21 ClinVar PMID:26581903, PMID:30531813 NCBI chr19:5,758,422...5,771,419
Ensembl chr19:5,758,351...5,771,419
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 21
ClinVar Annotator: match by OMIM:607454
OMIM
ClinVar
PMID:11160961, PMID:25070513, PMID:25741868 NCBI chr 4:155,734,804...155,740,564
Ensembl chr 4:155,734,800...155,740,564
JBrowse link
spinocerebellar ataxia type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 23
ClinVar Annotator: match by term: Spinocerebellar ataxia 23
ClinVar Annotator: match by OMIM:610245
OMIM
ClinVar
PMID:21035104, PMID:23108490, PMID:23471613, PMID:25741868, PMID:26467025, PMID:27528516, PMID:28492532 NCBI chr 2:129,686,549...129,699,938
Ensembl chr 2:129,686,565...129,699,844
JBrowse link
spinocerebellar ataxia type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by OMIM:609306 OMIM
ClinVar
PMID:15732118, PMID:23001565 NCBI chr10:81,176,631...81,182,509
Ensembl chr10:81,176,631...81,182,498
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
IEA
ClinVar Annotator: match by term: Spinocerebellar ataxia type 27
ClinVar Annotator: match by term: Spinocerebellar ataxia 27
OMIM:609307
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:609307
OMIM
ClinVar
MouseDO
CTD
PMID:5470364, PMID:12489043, PMID:15470364, PMID:21681106, PMID:25741868, PMID:26089778, PMID:26467025, PMID:28492532, PMID:30017992, PMID:194719761 NCBI chr14:123,974,441...124,677,686
Ensembl chr14:123,977,907...124,677,127
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 AAA ATPase 2 ISO
IEA
IMP
ClinVar Annotator: match by term: Spinocerebellar ataxia type 28
ClinVar Annotator: match by term: Spinocerebellar ataxia 28
OMIM:610246
DNA:deletion
DNA:missense mutation:exon:p.P688T (c.2062C>A) (human)
DNA:missense mutation:exon:p.E700K (c.2098G>A) (human)
DNA:missense mutations: :multiple
DNA:missense mutations:exon:p.M666V (c.1996A>G), p.G671R (c.2011G>A) (human)
ClinVar Annotator: match by OMIM:610246
OMIM
ClinVar
MouseDO
PMID:16251216, PMID:20208537, PMID:20354562, PMID:20725928, PMID:23777634, PMID:25741868, PMID:25741869, PMID:26467025, PMID:28492532, PMID:31111429, PMID:24814845, PMID:26868664, PMID:20354562, PMID:20208537, PMID:20725928, PMID:25485680 RGD:11534993, RGD:11532678, RGD:11532675, RGD:11532674, RGD:11532673, RGD:11532671 NCBI chr18:67,404,764...67,449,192
Ensembl chr18:67,404,764...67,449,172
JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 ClinVar PMID:28492532 NCBI chr18:67,390,731...67,402,749
Ensembl chr18:67,390,717...67,402,749
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 chr10:20,952,232...21,080,429
Ensembl chr10:20,952,547...21,080,429
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:64,729,125...64,731,245
Ensembl chr 6:64,729,125...64,731,245
JBrowse link
G B9d1 B9 protein domain 1 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:24886560, PMID:26092869 NCBI chr11:61,505,144...61,512,931
Ensembl chr11:61,505,144...61,512,931
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 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972
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 chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840
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 chr15:8,169,025...8,271,158
Ensembl chr15:8,169,106...8,271,158
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 29
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11445634, PMID:12611586, PMID:14981189, PMID:15623688, PMID:17030759, PMID:17590087, PMID:18579805, PMID:21367767, PMID:22986007, PMID:23495097, PMID:23806086, PMID:24088041, PMID:25326635, PMID:25326637, PMID:25574826, PMID:25741868, PMID:25794864, PMID:25981959, PMID:26257172, PMID:26467025, PMID:26770814, PMID:27062503, PMID:27108798, PMID:28488678, PMID:28492532, PMID:28659154, PMID:29925855 NCBI chr 6:108,213,083...108,551,116
Ensembl chr 6:108,213,096...108,551,109
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 chr11:87,853,182...87,863,803
Ensembl chr11:87,853,215...87,863,803
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:166,386,573...166,440,704
Ensembl chr  X:166,390,033...166,440,704
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 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262
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 chr19:10,539,326...10,556,297
Ensembl chr19:10,533,865...10,556,238
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar PMID:9375913, PMID:10508989, PMID:17377820, PMID:17397051, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26729329, PMID:27491411, PMID:28431631, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
JBrowse link
spinocerebellar ataxia type 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bean1 brain expressed, associated with Nedd4, 1 ISO ClinVar Annotator: match by null ClinVar
OMIM
PMID:19878914 NCBI chr 8:104,170,379...104,219,098
Ensembl chr 8:104,170,442...104,219,122
JBrowse link
G Plekhg4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 16q22-linked ClinVar PMID:16001362, PMID:16614795, PMID:16780885 NCBI chr 8:105,369,640...105,382,860
Ensembl chr 8:105,373,274...105,382,862
JBrowse link
spinocerebellar ataxia type 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 34 OMIM
ClinVar
PMID:5048218, PMID:24566826, PMID:25741868, PMID:26010696, PMID:28492532 NCBI chr 9:83,778,692...83,806,305
Ensembl chr 9:83,778,692...83,806,277
JBrowse link
spinocerebellar ataxia type 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 35
ClinVar Annotator: match by OMIM:613908
OMIM
ClinVar
PMID:21106500, PMID:22554020, PMID:25253745, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28934387, PMID:30670339 NCBI chr 2:130,112,416...130,154,233
Ensembl chr 2:130,112,416...130,154,232
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spinocerebellar ataxia type 36